scientific journal | Q5633421 |
P6981 | ACNP journal ID | 2847239 |
2724949 | ||
P8375 | Crossref journal ID | 4976 |
82548 | ||
P1250 | Danish Bibliometric Research Indicator (BFI) SNO/CNO | 8704 |
P1058 | ERA Journal ID | 2422 |
P236 | ISSN | 1090-6576 |
1557-7473 | ||
1945-0257 | ||
1945-0265 | ||
P1277 | JUFO ID | 56516 |
P1055 | NLM Unique ID | 101494210 |
9802546 | ||
P10283 | OpenAlex ID | V96572642 |
P3181 | OpenCitations bibliographic resource ID | 103620 |
264452 | ||
P1156 | Scopus source ID | 22167 |
17700156201 | ||
P4616 | UniProt journal ID | 4182 |
P1240 | Danish Bibliometric Research Indicator level | 1 | |
P8875 | indexed in bibliographic review | Science Citation Index Expanded | Q104047209 |
Scopus | Q371467 | ||
P123 | publisher | Mary Ann Liebert, Inc. | Q6778890 |
P1476 | title | Genetic Testing and Molecular Biomarkers |
Q39001963 | "Forward-Thinking" in U.S. Biobanking |
Q38219089 | "I do not want my baby to suffer as I did"; prenatal and preimplantation genetic diagnosis for BRCA1/2 mutations: a case report and genetic counseling considerations |
Q83477665 | "Insufficient evidence" isn't sufficient anymore |
Q38972111 | "Still Rather Hazy at Present": Citizens' and Physicians' Views on Returning Results from Biobank Research Using Broad Consent |
Q43752161 | -765 G→C and -1195 A→G promoter variants of the cyclooxygenase-2 gene decrease the risk for preeclampsia |
Q33705966 | -94 ATTG insertion/deletion polymorphism of the NFKB1 gene is associated with coronary artery disease in Han and Uygur women in China |
Q37421777 | 1q44-qter trisomy: clinical report and review of the literature. |
Q45019067 | 21st-Century Healthcare Policy and the Regulation of Laboratory-Developed Tests |
Q40751507 | 5569G/A polymorphism of the HFE gene: no implications for C282Y genotyping in a hemochromatosis screening study of 65,238 individuals |
Q46792043 | A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18. |
Q51981356 | A 6-year experience demonstrates the utility of screening for both cytogenetic and FMR-1 abnormalities in patients with mental retardation. |
Q91807348 | A Case-Control Study on Association of Ulcerative Colitis with FCGR2A Gene Polymorphisms in Chinese Patients |
Q89890739 | A Case-Control Study on the Correlation Between Thymidylate Synthase Gene Polymorphisms and Raltitrexed Treatment Combined with Transcatheter Arterial Chemoembolization in Hepatocellular Carcinoma Treatment |
Q47768245 | A Combined Study of SLC6A15 Gene Polymorphism and the Resting-State Functional Magnetic Resonance Imaging in First-Episode Drug-Naive Major Depressive Disorder |
Q92613467 | A Comparative Study of ARHI Imprinted Gene Detection and Fine-Needle Aspiration Cytology in the Differential Diagnosis of Benign and Malignant Thyroid Nodules |
Q49668020 | A Comparative Study on the Role of Xpert MTB/RIF in Testing Different Types of Spinal Tuberculosis Tissue Specimens |
Q49873871 | A Crack in the Wall of Competition: Will Compassion Prevail? |
Q112290538 | A Five-mRNA Expression Signature to Predict Survival in Oral Squamous Cell Carcinoma by Integrated Bioinformatic Analyses |
Q84794465 | A G-to-T transversion at the splice acceptor site of dystrophin exon 14 shows multiple splicing outcomes that are not exemplified by transition mutations |
Q47566718 | A Genetic Variant in miR-124 Decreased the Susceptibility to Esophageal Squamous Cell Carcinoma in a Chinese Kazakh Population |
Q92366482 | A Hallmark-Based Six-Gene Expression Signature to Assess Colorectal Cancer and Its Recurrence Risk |
Q92743141 | A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita |
Q57234993 | A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin |
Q102056204 | A Meta-Analysis of the Association Between the VEGF +936C>T Gene Polymorphism and Digestive System Cancer Susceptibility |
Q35896862 | A Meta-analysis on the Effect of Ulinastatin on Serum Levels of C-Reactive Protein, Interleukin 6, and Tumor Necrosis Factor Alpha in Asian Patients with Acute Pancreatitis |
Q59548997 | A Missense Mutation in Exon 13 in BRCA2, c.7235G>A, Results in Skipping of Exon 13 |
Q29303555 | A Multiplex ARMS Test for 10 Cystic Fibrosis (CF) Mutations: Evaluation in a Prenatal CF Screening Program |
Q64935078 | A Mutational Analysis of GJB2, SLC26A4, MT-RNA1, and GJB3 in Children with Nonsyndromic Hearing Loss in the Henan Province of China. |
Q53297006 | A New Day Dawns for Direct-to-Consumer Marketing. |
Q51062350 | A Nonsense ALMS1 Mutation Underlies Alström Syndrome in an Extended Mennonite Kindred Settled in North Mexico. |
Q90295507 | A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories |
Q90869820 | A Novel CDH1 Mutation Causing Reduced E-Cadherin Dimerization Is Associated with Nonsyndromic Cleft Lip With or Without Cleft Palate |
Q89494997 | A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas |
Q90682637 | A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family |
Q99245891 | A Novel Mutation in the IL6R Gene Identified in a Family with Asthma Patients |
Q91841412 | A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family |
Q97556698 | A Novel Nonsense Mutation in the EXT2 Gene Identified in a Family with Hereditary Multiple Osteochondromas |
Q91586543 | A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1 |
Q92509760 | A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia |
Q50317097 | A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing. |
Q91914491 | A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family |
Q64387069 | A One-Step Prescreening for Point Mutations and Large Rearrangement in BRCA1 and BRCA2 Genes Using Quantitative Polymerase Chain Reaction and High-Resolution Melting Curve Analysis |
Q50485300 | A PCR-RFLP assay for the A716T mutation in the WFS1 gene, a common cause of low-frequency sensorineural hearing loss. |
Q48268937 | A PCR-RFLP test for simultaneous detection of two single-nucleotide insertions in the Connexin-26 gene promoter |
Q58801519 | A Pilot C282Y Hemochromatosis Screening in Italian Newborns by TaqMan™ Technology |
Q40201029 | A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood |
Q87104166 | A Potential Role for Aromatase Levels in Coronary Heart Disease |
Q90998690 | A Preliminary Study on Metadherin as a Potential Marker for Progression of Diffuse Large B Cell Lymphoma |
Q46538670 | A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses |
Q90790742 | A Role for Storytelling in Improving Consumer Understanding of Genetic Testing |
Q104129542 | A Shared Susceptibility Locus in the p53 Gene for both Gastric and Esophageal Cancers in a Northwestern Chinese Population |
Q42881063 | A Simple Allele-Specific Polymerase Chain Reaction Method to Detect the Gly143Glu Polymorphism in the Human Carboxylesterase 1 Gene: Importance of Genotyping for Pharmacogenetic Treatment |
Q58193872 | A Single Strand Conformation Polymorphism-Based Carrier Test for Spinal Muscular Atrophy |
Q54636233 | A Single multiplexed allele-specific polymerase chain reaction for simultaneous detection of alpha1-antitrypsin S and Z mutations. |
Q87270219 | A Single-Nucleotide Polymorphism of miR-196a2T>C rs11614913 Is Associated with Hepatocellular Carcinoma in the Chinese Population |
Q48013295 | A Study on the Role of Estrogen Receptor Gene Polymorphisms in Female Infertility |
Q61454361 | A Tetra-Primer Amplification Refractory System Technique for the Cost-Effective and Novel Genotyping of Eight Single-Nucleotide Polymorphisms of the Catechol-O-Methyltransferase Gene |
Q110764352 | A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family |
Q54447163 | A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree. |
Q37587888 | A call for participatory oversight |
Q42284558 | A candidate gene study for the association of host single nucleotide polymorphisms with liver cirrhosis risk in chinese hepatitis B patients |
Q54682775 | A combined allele-specific PCR and RFLP assay to detect the 35delG mutation in the Connexin 26 gene. |
Q52580413 | A common 1317TC polymorphism in MTHFR can lead to erroneous 1298AC genotyping by PCR-RE and TaqMan probe assays. |
Q48292997 | A comparative study on the cytogenetic activity of three benzodiazepines in vitro |
Q78684515 | A cost-effective screening test for detecting AZF microdeletions on the human Y chromosome |
Q34108725 | A cytogenetic study in a large population of intellectually disabled Indonesians |
Q80757064 | A de novo reciprocal t(2;18) translocation with regular trisomy 21 |
Q36174297 | A delta-sarcoglycan gene polymorphism as a risk factor for hypertrophic cardiomyopathy. |
Q47980843 | A duplex allele-specific amplification PCR to detect SMN1 deletion |
Q54613077 | A fluorescent multiplex-DGGE screening test for mutations in the BRCA1 gene. |
Q41452007 | A frequent large rearrangement in the CFTR gene in cystic fibrosis patients from Reunion Island |
Q35181543 | A functional insertion/deletion polymorphism in the promoter region of the NFKB1 gene increases the risk of papillary thyroid carcinoma |
Q46012620 | A functional polymorphism in MIR196A2 is associated with risk and progression of nasopharyngeal carcinoma in the Chinese population. |
Q54337833 | A functional polymorphism in the epidermal growth factor gene is associated with risk for glioma in a Chinese population. |
Q81468045 | A genetic history questionnaire-based system in primary prenatal care to screen for selected fetal disorders |
Q44630879 | A genomic insight into the peopling of Manipur, India |
Q39791829 | A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient. |
Q47953614 | A gradient of NOS1 overproduction alleles in European and Mediterranean populations |
Q36889826 | A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men. |
Q46490942 | A haplotype of the SMTN gene associated with myocardial infarction in Japanese women |
Q79771196 | A high-resolution polymerase chain reaction-sequence-specific primer HLA-B*27 typing set and its application in routine HLA-B27 testing |
Q34222871 | A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach |
Q56776880 | A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India |
Q83924763 | A measure of truth in genetic testing |
Q38261101 | A meta-analysis of the correlation between the HLA-DRB1*03 allele and chronic hepatitis B in the Han Chinese population |
Q87292249 | A multiplex polymerase chain reaction method for the simultaneous detection of GSTM1, GSTT1, and GSTP1 polymorphisms |
Q38355629 | A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations |
Q35805662 | A mutation-sensitive switch assay to detect five clinically significant epidermal growth factor receptor mutations |
Q44559895 | A nationwide genetic testing survey in Italy, year 2007. |
Q48107115 | A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation. |
Q45262046 | A new method for FMR1 gene methylation screening by multiplex methylation-specific real-time polymerase chain reaction |
Q46941101 | A new, easy, and rapid high-throughput detection method for the common GJB2 (CX26), 35delG mutation |
Q81347889 | A note on appropriate use of statistical tests of mutation rates from ordered groups |
Q36638555 | A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family |
Q48937719 | A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of onset: HapMap tag-single-nucleotide polymorphism analysis |
Q38355625 | A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome |
Q47331088 | A novel SNaPshot assay to detect genetic mutations related to iron metabolism. |
Q46368558 | A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus |
Q51036167 | A novel multiplex rt-PCR assay for the detection of four chromosomal translocations of leukemia. |
Q45880585 | A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly |
Q81718859 | A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses |
Q84478693 | A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis |
Q80757056 | A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses |
Q83764073 | A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia |
Q83532380 | A novel polymorphism in codon 25 of the KRAS gene associated with gallbladder carcinoma patients of the eastern part of India |
Q38026591 | A novel splice site and two known mutations of androgen receptor gene in sex-reversed XY phenotype |
Q37587924 | A novel tri-allelic insertion/deletion polymorphism in the promoter of p21(Waf1/Cip1) and the association with gastric cancer |
Q36174302 | A novel variation of PLAGL1 in Chinese patients with isolated ventricular septal defect |
Q51918698 | A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions. |
Q38523999 | A philosophical critique of decision analysis as a tool in genetic testing |
Q34112119 | A pilot study of hereditary breast and ovarian knowledge among a multiethnic group of Hispanic women with a personal or family history of cancer |
Q36117526 | A pilot study on cytotoxic T lymphocyte-4 gene polymorphisms in urinary schistosomiasis |
Q52936689 | A pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes. |
Q54332814 | A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation. |
Q54344393 | A polymerase chain reaction-restriction fragment length polymorphism method for screening ZNF804A gene polymorphism (rs1344706) in patients with schizophrenia: a significant association. |
Q78178696 | A practical guide for the validation of genetic tests |
Q77962887 | A primer for predicting risk of disease in HFE-linked hemochromatosis |
Q46982969 | A proposed role for consumers and the general public as consumers of health care in community-wide genetic testing |
Q39400734 | A rapid PCR-SSP assay for the hemochromatosis-associated Tyr250Stop mutation in the TFR2 gene |
Q73717894 | A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR |
Q79327686 | A rapid and noninvasive method for detecting tissue-limited mosaicism: detection of i(12)(p10) in buccal smear from a child with Pallister-Killian syndrome |
Q84242142 | A rapid screening method for the identification of a single-nucleotide polymorphism in the carbonic anhydrase VI gene in studies of sensitivity to the bitter taste of 6-n-propylthiouracil |
Q50488665 | A real-time polymerase chain reaction-based protocol for low/medium-throughput Y-chromosome microdeletions analysis. |
Q43495825 | A report template for molecular genetic tests designed to improve communication between the clinician and laboratory |
Q74210358 | A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations |
Q73338759 | A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome |
Q78178539 | A simple VNTR-PCR method for detecting maternal cell contamination in prenatal diagnosis |
Q73717904 | A simple method of screening for the common connexin-26 gene 35delG mutation in nonsyndromic neurosensory autosomal recessive deafness |
Q46897194 | A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification. |
Q78178490 | A simple system for automated two-dimensional electrophoresis: applications to genetic testing |
Q78684524 | A simplified method for the detection of Y chromosome microdeletions in infertile men using a multiplex sequence-tagged site-based amplification |
Q34722075 | A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications |
Q36789430 | A statewide survey of practitioners to assess knowledge and clinical practices regarding hereditary breast and ovarian cancer |
Q51981352 | A strategy for fragile-X carrier screening. |
Q54289464 | A study on genetic test of lactase persistence in relation to milk consumption in regional groups of India. |
Q39958810 | A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population |
Q80757069 | A tetra-primer polymerase chain reaction approach for the detection of JAK2 V617F mutation |
Q36155805 | A typing system for the major histocompatibility complex class I chain related genes A and B using polymerase chain reaction with sequence-specific primers |
Q78823870 | A very rare association of three mutations of the HFE gene for hemochromatosis |
Q35064863 | ABCB1 C3435T polymorphism and the risk of coronary heart disease: a meta-analysis |
Q35223988 | ABCB1 C3435T polymorphism and the risk of ischemic heart disease: a meta-analysis |
Q38325834 | ABCC8 polymorphisms are associated with triglyceride concentration in type 2 diabetics on sulfonylurea therapy. |
Q36353183 | ABL kinase domain mutations in patients with chronic myeloid leukemia in Jordan |
Q91143834 | ABO Genotype and Blood Type Are Associated with Otitis Media |
Q59277554 | ACE and AGTR1 Polymorphisms in Elite Rhythmic Gymnastics |
Q54359984 | ACE gene polymorphism in premature neonates with respiratory distress syndrome. |
Q38916315 | AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population |
Q36720686 | ALOX5 is associated with tuberculosis in a subset of the pediatric population of North China |
Q81693416 | APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations |
Q50033297 | ATM, BCL2, and TGFβ Gene Polymorphisms as Radiotherapy Outcome Biomarkers in Head and Neck Squamous Cell Carcinoma Patients |
Q87138485 | ATP7B Gene Mutations in Croatian Patients with Wilson Disease |
Q40734476 | AXIN2 Polymorphisms and Their Association with Colorectal Cancer in Mexican Patients |
Q51072861 | Aberrant Expression of miR-323a-5p in Patients with Refractory Epilepsy Caused by Focal Cortical Dysplasia. |
Q28279636 | Aberrant apolipoprotein E expression and cognitive dysfunction in patients with poststroke depression |
Q41192774 | Aberrant methylation of promoter region of SPINT2/HAI-2 gene: an epigenetic mechanism in hepatitis C virus-induced hepatocarcinogenesis |
Q54527620 | Aberrations of chromosomes 9 and 22 in acute lymphoblastic leukemia cases detected by ES-fluorescence in situ hybridization. |
Q87426619 | About sequence quality: impact on clinical applications |
Q46464502 | Absence of H186R polymorphism in exon 4 of the APOBEC3G gene among North Indian individuals |
Q46599521 | Absence of commonly reported leucine-rich repeat kinase 2 mutations in Eastern Indian Parkinson's disease patients |
Q38352197 | Absence of the Kilifi mutation in the rhinovirus-binding domain of ICAM-1 in a Caucasian population |
Q64929059 | Acceptance of neonatal genetic screening for hereditary hemochromatosis by informed parents. |
Q81432181 | Accuracy of cancer family histories: comparison of two breast cancer syndromes |
Q54374364 | Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy. |
Q50752098 | Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing. |
Q40614768 | Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats |
Q78178468 | Accurate, high-throughput "snapshot" detection of hMLH1 mutations by two-dimensional DNA electrophoresis |
Q38884959 | Acquired Mutation of the Tyrosine Kinase JAK2V617F in Egyptian Patients with Myeloid Disorders |
Q92670179 | Add Water and Serve: Liquid Biopsies Making Waves |
Q43782292 | Addition of β-mercaptoethanol is a prerequisite for high-quality RNA isolation using QIAsymphony technology as demonstrated by detection of molecular aberrations in hematologic malignancies |
Q51082511 | Additional Evidence Supports Association of Common Variants in COL11A1 with Increased Risk of Hip Osteoarthritis Susceptibility. |
Q74613707 | Addressing consumer grievances in medicine: policies and practices of newborn screening programs in the United States |
Q51945547 | Adiponectin gene haplotype is associated with preeclampsia. |
Q33721346 | Advances in the molecular genetics of congenital structural heart disease |
Q83861053 | Age differences in the relation between ACTN3 R577X polymorphism and thigh-muscle cross-sectional area in women |
Q54093259 | Age-Specific Association of CCL5 Gene Polymorphism with Pulmonary Tuberculosis: A Case-Control Study. |
Q50967222 | Aldosterone synthase gene (CYP11B2) -344C/T polymorphism contributes to the risk of recurrent cerebral ischemia. |
Q54326721 | Allele and genotype frequencies of CYP2C9 within an Iranian population (Mazandaran). |
Q54330566 | Allele and genotype frequencies of CYP3A4, CYP2C19, and CYP2D6 in Han, Uighur, Hui, and Mongolian Chinese populations. |
Q51806631 | Allele and genotype frequencies of serotonin and dopamine transporter and receptor polymorphisms in a Norwegian population. |
Q64913439 | Allele drop-out can occur in alleles differing by a single nucleotide and is not alleviated by preamplification or minor template increments. |
Q38344948 | Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome |
Q48000975 | Allele-specific amplification of exon 7 in the survival motor neuron (SMN) genes for molecular diagnosis of spinal muscular atrophy |
Q86837309 | Allelic Frequency of a 24-bp Duplication in Exon 10 of the CHIT1 Gene in the General Iranian Population |
Q44326886 | Allelic dropout in the ENG gene, affecting the results of genetic testing in hereditary hemorrhagic telangiectasia |
Q46471844 | Allelic frequencies of the 35delG mutation of the GJB2 gene in different Brazilian regions |
Q77480367 | Allelic loss analysis by capillary electrophoresis: an accurate, automated method for detection of deletions in solid tumors |
Q46190060 | Allelic variation and haplotype structure of the dopamine receptor gene DRD2 in nine Indian populations |
Q61945752 | Allograft Inflammatory Factor-1 Gene Polymorphisms in Patients with Rheumatoid Arthritis |
Q54410432 | Alpha- and Beta-Synucleins mRNA Expression in Lymphocytes of Schizophrenia Patients |
Q36353172 | Alpha-1-antitrypsin deficiency in Serbian adults with lung diseases. |
Q73834630 | Amplification of a 13.5-kb region of the PKD1 gene containing the 2.5-kb polypyrimidine tract in intron 21 facilitates mutation detection in this gene |
Q52932351 | An Association Study Between Gene Polymorphisms of Folic Acid Metabolism Enzymes and Biochemical and Hormonal Parameters in Acromegaly. |
Q50921546 | An Association Study of the SLC19A1 Gene Polymorphisms/Haplotypes with Idiopathic Recurrent Pregnancy Loss in an Iranian Population. |
Q88536530 | An Evidence Framework for Genetic Testing |
Q45938357 | An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation. |
Q93097991 | An Old Concept with a New Twist |
Q81432223 | An RT-PCR-based strategy to estimate full-length CYP2D6 mRNA copy number |
Q41906777 | An algorithm for genetic testing of Serbian patients with demyelinating Charcot-Marie-Tooth |
Q47625378 | An allelic variant at the ATM locus is implicated in breast cancer susceptibility |
Q50536485 | An analysis of hematological parameters to assess the prevalence of anemia in elderly subjects from Saudi Arabia. |
Q51892020 | An anomalous haplotype distribution of the arrestin domain-containing 4 gene (ARRDC4) haplotypes in Caucasians. |
Q78178526 | An efficient protocol for rare mutation genotyping in a large population |
Q40639465 | An improved assay for genotyping the common Alu insertion in the tissue-type plasminogen activation gene PLAT. |
Q53219730 | An insertion/deletion polymorphism at miRNA-122 binding site in the IL1A is associated with a reduced risk of cervical squamous cell carcinoma. |
Q37686184 | An insertion/deletion polymorphism within the proximal promoter of EGLN2 is associated with susceptibility for gastric cancer in the Chinese population |
Q48263895 | An intronic polymorphism of the hMLH1 gene contributes toward incomplete genetic testing for HNPCC. |
Q53545734 | An investigation of the association of the H558R polymorphism of the SCN5A gene with idiopathic cardiac conduction disorders. |
Q43265640 | An unusual melting curve on a LightCycler due to a new mutation in methylenetetrahydrofolate reductase |
Q91590386 | Analyses of the Genetic Polymorphisms rs3740199 and rs1871054 of the ADAM12 Gene and the Alleles at the rs2073508 Loci of the TGFB1 Gene and Their Contribution to Susceptibility to Primary Knee Osteoarthritis |
Q37785549 | Analysis of Azoospermia Factor Loci Polymorphisms Among Tunisian Infertile Men with Varicocele |
Q48704756 | Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts |
Q51562325 | Analysis of Cyclin-Dependent Kinase Inhibitor-2B rs1063192 Polymorphism in Saudi Patients with Primary Open-Angle Glaucoma. |
Q35804238 | Analysis of DNA methylation in plasma for monitoring hepatocarcinogenesis |
Q37790700 | Analysis of Educational Materials and Destruction/Opt-Out Initiatives for Storage and Use of Residual Newborn Screening Samples |
Q34113891 | Analysis of FokI polymorphism of vitamin D receptor gene in intervertebral disc degeneration |
Q59414057 | Analysis of Human CD36 Gene Sequence Alterations in the Oxidized Low-Density Lipoprotein-Binding Region Using Denaturing High-Performance Liquid Chromatography |
Q91295497 | Analysis of IL17A and IL21 Expression in the Small Intestine of Celiac Disease Patients and Correlation with Circulating Thioredoxin Level |
Q43556836 | Analysis of MEF2A mutations in a Chinese population with premature coronary artery disease |
Q51626321 | Analysis of PTEN gene mutations in a Turkish patient with Cowden syndrome. |
Q51518909 | Analysis of Polymorphism rs1900004 in Atonal bHLH Transcription Factor 7 in Saudi Patients with Primary Open Angle Glaucoma. |
Q93060348 | Analysis of Polymorphisms in the MATN3 and DOT1L Genes and CTX-II Urinary Levels in Patients with Knee Osteoarthritis in a Northeast Mexican-Mestizo Population |
Q87270714 | Analysis of Toll-Like Receptor 2 Polymorphism (rs5743704) in Saudi Patients with Primary Open-Angle Glaucoma |
Q47372224 | Analysis of a large-scale screening of mitochondrial DNA m.1555A>G mutation in 2417 deaf-mute students in northwest of China |
Q55069373 | Analysis of clinical indexes and RUNX3, TBKBP1, PPARGC1B polymorphisms in Chinese Han patients with ankylosing spondylitis. |
Q80603304 | Analysis of cystic fibrosis gene mutations and associated haplotypes in the Croatian population |
Q40413303 | Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever |
Q36353178 | Analysis of polymorphisms in interleukin-10, interleukin-6, and interleukin-1 receptor antagonist in Mexican-Mestizo women with pre-eclampsia |
Q54518364 | Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay. |
Q54399549 | Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module. |
Q44042904 | Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss |
Q52692172 | Analysis of the Impact of Common Polymorphisms of the FTO and MC4R Genes with the Risk of Severe Obesity in Saudi Arabian Population. |
Q38410577 | Analysis of the Possible Persistent Genotoxic Damage in Workers Linked to the Ardystil Syndrome. |
Q36602097 | Analysis of the Relationship Between ADIPOR1 Variants and the Susceptibility of Chronic Metabolic Diseases in a Northeast Han Chinese Population |
Q93149747 | Analysis of the Yp11.2 Deletion Region of Phenotypically Normal Males with an AMELY-Null Allele in the Chinese Han Population |
Q44415579 | Angelman syndrome methylation screening of 15q11-q13 in institutionalized individuals with severe mental retardation |
Q53363991 | Angiotensin II type 1 receptor (AT1) gene A1166C is associated with the risk of hypertension. |
Q84431099 | Angiotensin-converting enzyme gene polymorphism in patients with multiple sclerosis from Bosnia and Herzegovina |
Q39241181 | Angiotensin-converting enzyme insertion/deletion gene polymorphism in a Tunisian healthy and acute myocardial infarction population |
Q46840334 | Angiotensin-converting enzyme insertion/deletion gene polymorphism in lung cancer patients. |
Q34491285 | Anonymous predictive testing for Huntington's disease in the United States |
Q83318748 | Answering the hard questions: the Genetic Testing Registry and its request for information |
Q54355573 | Apolipoprotein E gene polymorphism and the risk of intracerebral hemorrhage in the Chinese population. |
Q28273356 | Apolipoprotein a5 gene polymorphism and risk for metabolic syndrome: a meta-analysis |
Q73356681 | Apparent FMR1 allele instability in non-fragile X males |
Q37886139 | Apparent neotelomere in a 46,X,del(X)(qter→p11.2:)/46,X,rea(X)(qter→p11.2::q21.2→qter) novel mosaicism: review of 34 females with a recombinant-like dup(Xq) chromosome |
Q73356676 | Apparently unstable normal FMR1 alleles in nine developmentally delayed patients: implications for molecular diagnosis of the fragile X syndrome |
Q93098011 | Application of Differentially Methylated Loci in Clinical Diagnosis of Trisomy 21 Syndrome |
Q90314391 | Application of Single-Tube Tri-Primer ARMS-PCR to Detect the NFKB1 ATTG Insertion/Deletion Polymorphism |
Q80603313 | Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory |
Q50454989 | Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay. |
Q40666787 | Application of population screening principles to genetic screening for adult-onset conditions |
Q92592872 | Applications of Next-Generation Sequencing in Neoantigen Prediction and Cancer Vaccine Development |
Q57643838 | Are they really incidental after all? |
Q45330149 | Arg399Gln polymorphism of X-ray repair cross-complementing group 1 gene is associated with angiographically documented coronary artery disease in South Indian type 2 diabetic patients |
Q90333988 | Arginase-1 Variants and the Risk of Familial Coronary Artery Disease in Subjects Originating from Pakistan |
Q53232891 | Arrayed primer extension in the "array of arrays" format: a rational approach for microarray-based SNP genotyping. |
Q51590513 | Arrayed primer extension: a robust and reliable genotyping platform for the diagnosis of single gene disorders: beta-thalassemia and thiopurine methyltransferase deficiency. |
Q51604356 | Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology. |
Q78178650 | Arylsulfatase A pseudodeficiency: altered kinetic and heat-inactivation properties |
Q78178727 | Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation |
Q45881455 | Assessment of a decision aid to assist genetic testing research participants in the informed consent process |
Q81694667 | Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder |
Q38065267 | Assessment of chromosomal aberrations and micronuclei in peripheral lymphocytes from tunisian hospital workers exposed to ionizing radiation |
Q42969655 | Assessment of genetic damage in inflammatory, precancerous, and cancerous pathologies of the esophagus using the comet assay |
Q36308148 | Assessment of individual susceptibility to baseline DNA and cytogenetic damage in a healthy Turkish population: evaluation with lifestyle factors. |
Q100406470 | Association Analysis Between Common Variants of the TRPM1 Gene and Three Mental Disorders in the Han Chinese Population |
Q50992425 | Association Analysis of Nonsyndromic Congenital Heart Disease and Tag Single Nucleotide Polymorphisms of TBX20 and Genes in the Ras-MAPK Pathway. |
Q50914876 | Association Analysis of Single Nucleotide Polymorphisms in C1QTNF6, RAC2, and an Intergenic Region at 14q32.2 with Graves' Disease in Chinese Han Population. |
Q49986826 | Association Analysis of the Brain-Derived Neurotrophic Factor Gene Val66Met Polymorphism and Gender with Efficacy of Antidepressants in the Chinese Han Population with Generalized Anxiety Disorder |
Q47818413 | Association Between ADRB2 Genetic Polymorphisms and the Risk of Chronic Obstructive Pulmonary Disease: A Case-Control Study in a Chinese Population |
Q54407208 | Association Between Angiotensin-Converting Enzyme Insertion/Deletion Genetic Polymorphism and Hypertension in a Sample of Lebanese Patients |
Q36966576 | Association Between Apolipoprotein B XbaI Polymorphism and Coronary Heart Disease in Han Chinese Population: A Meta-Analysis |
Q91295522 | Association Between C1q, TRAIL, and Tim-1 Gene Polymorphisms and Systemic Lupus Erythematosus |
Q47708570 | Association Between Clusterin Gene Polymorphisms and Epilepsy in a Han Chinese Population |
Q91282257 | Association Between Complement Factor C2/C3/CFB/CFH Polymorphisms and Age-Related Macular Degeneration: A Meta-Analysis |
Q39990878 | Association Between Gasdermin A and Gasdermin B Polymorphisms and Susceptibility to Adult and Childhood Asthma Among Jordanians. |
Q96581807 | Association Between Genetic Polymorphisms of CR2 Gene and the Risk of Steroid-Induced Osteonecrosis of the Femoral Head in the Chinese Han Male Population |
Q34046156 | Association Between Human Hair Loss and the Expression Levels of Nucleolin, Nucleophosmin, and UBTF Genes |
Q51686252 | Association Between Human Telomerase Reverse Transcriptase Gene Variations and Risk of Developing Breast Cancer. |
Q38645665 | Association Between IL-17A +197 G/A Polymorphism and Cancer Risk: A Meta-analysis |
Q36367815 | Association Between KCNQ1 Genetic Variants and Type 2 Diabetes in the Uyghur Population |
Q91143829 | Association Between LMP-1, LMP-2, and miR-155 Expression as Potential Biomarker in Nasopharyngeal Carcinoma Patients: A Case/Control Study in Vietnam |
Q89890738 | Association Between LOX-1, LAL, and ACAT1 Gene Single Nucleotide Polymorphisms and Carotid Plaque in a Northern Chinese Population |
Q91313822 | Association Between MALAT1 and THRIL Polymorphisms and Precancerous Cervical Lesions |
Q36302101 | Association Between MTHFR C677T Polymorphism and Methotrexate Treatment Outcome in Rheumatoid Arthritis Patients: A Systematic Review and Meta-Analysis |
Q90998699 | Association Between Matrix Metalloproteinase-1, 2, 3 Polymorphisms and Oral Cancer Risk: A Meta-Analysis |
Q91138578 | Association Between Period 3 Gene Polymorphisms and Adverse Effects of Antidepressants for Major Depressive Disorder |
Q50555647 | Association Between Polymorphisms of DNA Repair Genes and Risk of Schizophrenia. |
Q40104044 | Association Between Polymorphisms of the Mannose-Binding Lectin and Severity of Periportal Fibrosis in Schistosomiasis, in the Northeast of Brazil |
Q38740989 | Association Between RET (rs1800860) and GFRA1 (rs45568534, rs8192663, rs181595401, rs7090693, and rs2694770) Variants and Kidney Size in Healthy Newborns. |
Q89349272 | Association Between TGF-β1 Polymorphisms and Asthma Susceptibility Among the Chinese: A Meta-Analysis |
Q33437597 | Association Between TNF-α -308G/A Polymorphism and Risk of Immune Thrombocytopenia: A Meta-Analysis |
Q36601866 | Association Between Three SNPs and Thromboangiitis Obliterans in Xinjiang Uyghur Population |
Q40695302 | Association Between Tissue Inhibitor of Metalloproteinase-3 Gene Methylation and Gastric Cancer Risk: A Meta-Analysis |
Q40957566 | Association Between a Glucokinase Regulator Genetic Variant and Metabolic Syndrome in Taiwanese Adolescents |
Q92864067 | Association Between an Interferon Regulatory Factor 6 Gene Polymorphism and Nonsyndromic Cleft Palate Risk |
Q90843259 | Association Between the Angiotensin-Converting Enzyme Gene Insertion/Deletion Polymorphism and Avascular Necrosis of the Femoral Head |
Q92743028 | Association Between the CYP4F2 Gene rs1558139 and rs2108622 Polymorphisms and Hypertension: A Meta-Analysis |
Q31140103 | Association Between the FokI and ApaI Polymorphisms in the Vitamin D Receptor Gene and Intervertebral Disc Degeneration: A Systematic Review and Meta-Analysis |
Q92743024 | Association Between the IL-10-1082G/A, IL-10-592A/C, and IL-10-819G/A Polymorphisms and Atopic Dermatitis Susceptibility: A Meta-Analysis |
Q47855096 | Association Between the Lower Extremity Deep Venous Thrombosis, the Warfarin Maintenance Dose, and CYP2C9*3, CYP2D6*10, and CYP3A5*3 Genetic Polymorphisms: A Case-Control Study |
Q35901118 | Association Between the NFKB1-94ins/del ATTG Polymorphism (rs28362491) and Coronary Artery Disease: A Systematic Review and Meta-Analysis |
Q90463338 | Association Between the SNP rs143383 + 104T/C in the GDF5 Gene and the Risk of Knee Osteoarthritis in a Population from Northern Mexico-A Case-Control Study |
Q87420727 | Association Between the Transforming Growth Factor Beta 1 Gene Polymorphisms and Turkish Patients with Nonsyndromic Cleft Lip With/Without Cleft Palate |
Q36064944 | Association Study Between SLC15A4 Polymorphisms and Haplotypes and Systemic Lupus Erythematosus in a Han Chinese Population |
Q90903868 | Association Study Reveals One Susceptibility Locus with Vitiligo in the Chinese Han Population |
Q34976112 | Association analysis between the prostaglandin E synthase 2 R298H polymorphism and body mass index in 8079 participants of the KORA study cohort |
Q36553922 | Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population |
Q35865309 | Association and interaction of PPARα, δ, and γ gene polymorphisms with low-density lipoprotein-cholesterol in a Chinese Han population |
Q46046874 | Association between -1562C>T polymorphism in the promoter region of matrix metalloproteinase-9 and coronary artery disease: a meta-analysis |
Q85781257 | Association between ADAM33 polymorphisms and susceptibility with adult and childhood asthma among Jordanians |
Q48189747 | Association between BDNF gene polymorphisms and attention deficit hyperactivity disorder in Korean children |
Q85784790 | Association between CRP gene polymorphisms and the risk of preeclampsia in Han Chinese women |
Q50728089 | Association between HTR1A gene polymorphisms and attention deficit hyperactivity disorder in Korean children. |
Q37686215 | Association between IHC and MSI testing to identify mismatch repair-deficient patients with ovarian cancer |
Q38170394 | Association between IL-6-174G/C polymorphism and risk of multiple sclerosis: a meta-analysis |
Q37067012 | Association between NFKB1 -94 insertion/deletion ATTG polymorphism and risk of intracranial aneurysm |
Q37277660 | Association between TGF-β1 polymorphisms and hepatocellular carcinoma risk: a meta-analysis |
Q50720238 | Association between TPH2 gene polymorphisms and attention deficit hyperactivity disorder in Korean children. |
Q34779809 | Association between adiponectin polymorphisms and the risk of colorectal cancer |
Q51834921 | Association between catechol-O-methyltransferase gene polymorphism and attention-deficit hyperactivity disorder in Korean population. |
Q54363934 | Association between cholesteryl ester transfer protein TaqIB variants and risk of coronary artery disease and diabetes mellitus in the population of western Iran. |
Q38110911 | Association between cytotoxic T-lymphocyte-associated antigen 4 +49A/G polymorphism and persistent hepatitis B virus infection in the Asian population: evidence from the current studies |
Q45019380 | Association between dopamine Beta-hydroxylase gene polymorphisms and attention-deficit hyperactivity disorder in korean children |
Q38917455 | Association between four resistin polymorphisms, obesity, and metabolic syndrome parameters in Tunisian volunteers |
Q36308212 | Association between gene expression of metabolizing enzymes and esophageal squamous cell carcinomas in China |
Q86027990 | Association between genetic variants of DNA repair genes and coronary artery disease |
Q34893448 | Association between insulin-like growth factor binding protein-3 promoter polymorphism of -1590 C>A and lung cancer susceptibility in a Chinese Han population |
Q38390131 | Association between interleukin-10-3575T>A (rs1800890) polymorphism and cancer risk |
Q26852408 | Association between interleukin-6 gene polymorphisms and bone mineral density: a meta-analysis |
Q33887921 | Association between monoamine oxidase gene polymorphisms and attention deficit hyperactivity disorder in Korean children |
Q43572601 | Association between polymorphism of the tumor necrosis factor alpha-308 gene promoter and colon cancer in the Chinese population |
Q54378991 | Association between polymorphisms in MTHFR and APOA5 and metabolic syndrome in the Greek population. |
Q35098078 | Association between six genetic polymorphisms and colorectal cancer: a meta-analysis |
Q53462400 | Association between the ABCA1-565C/T gene promoter polymorphism and coronary heart disease severity and cholesterol efflux in the Chinese Han population. |
Q47909574 | Association between the ACTN3 R577X polymorphism and artistic gymnastic performance in Italy |
Q34643050 | Association between the CTLA-4 +49A/G polymorphism and type 1 diabetes: a meta-analysis |
Q86692640 | Association between the LCE3C_LCE3B deletion polymorphism and susceptibility to psoriasis: a meta-analysis of published studies |
Q34252703 | Association between the MTHFR C677T polymorphism and recurrent pregnancy loss: a meta-analysis. |
Q82610474 | Association between the PPARG gene polymorphism and the risk of diabetic nephropathy: a meta-analysis |
Q37067030 | Association between the XRCC6 Promoter rs2267437 polymorphism and cancer risk: evidence based on the current literature |
Q54779795 | Association between the c.3073A>C genetic polymorphism of the MDR1 gene and susceptibility to gastric cancer in the Chinese Han population. |
Q87130600 | Association between the g.14461A>G genetic polymorphism of the TLR4 gene and type 2 diabetes mellitus risk in a Chinese population |
Q37944347 | Association between tumor necrosis factor-α-308G/A polymorphism and obstructive sleep apnea: a meta-analysis |
Q47781323 | Association between two functional fibrinogen-related polymorphisms and ischemic stroke: a case-control study |
Q84611929 | Association between vascular endothelial growth factor + 936 genotype and acute respiratory distress syndrome in a Chinese population |
Q54394493 | Association of (GT)n repeats promoter polymorphism of heme oxygenase-1 gene with serum bilirubin levels in healthy Indian adults. |
Q37190353 | Association of -2518A>G promoter polymorphism in the monocyte chemoattractant protein-1 (MCP-1) gene with type 2 diabetes and coronary artery disease |
Q36638595 | Association of -2549 insertion/deletion polymorphism of vascular endothelial growth factor with breast cancer in North Indian patients. |
Q51566333 | Association of 1166A>C AT1R, -1562C>T MMP-9, ACE I/D, and CCR5Δ32 Polymorphisms with Abdominal Aortic Aneurysm in Croatian Patients. |
Q103737521 | Association of ABCB1 and CYP450 Gene Polymorphisms and their DNA Methylation Status with Steroid-Induced Osteonecrosis of the Femoral Head in the Chinese Population |
Q53833458 | Association of ACE and MDR1 Gene Polymorphisms with Steroid Resistance in Children with Idiopathic Nephrotic Syndrome. |
Q84042729 | Association of ADRB1 gene polymorphism with atrial fibrillation |
Q91727559 | Association of AMPK Pathway-Related Gene Polymorphisms with Symptomatic Intracranial Atherosclerotic Stenosis in a Chinese Han Population |
Q91955823 | Association of ARID5B and IKZF1 Variants with Leukemia from Northern India |
Q38887355 | Association of Angiotensin-Converting Enzyme ACE Gene Polymorphism with ACE Activity and Susceptibility to Vitiligo in Egyptian Population. |
Q87066095 | Association of Apolipoprotein A5 Gene Polymorphisms with Metabolic Syndrome in the Korean Population |
Q47586572 | Association of Apolipoprotein E Polymorphism with Impact on Overweight University Pupils |
Q91070304 | Association of Base Excision Repair Gene hOGG1 Ser326Cys Polymorphism with Susceptibility to Cervical Squamous Cell Carcinoma and High-Risk Human Papilloma Virus Infection in a Chinese Population |
Q50560856 | Association of CCR2 (+190 G/A) Gene Variants and Ovarian Cancer Severity. |
Q35888677 | Association of CD36 gene variants and metabolic syndrome in Iranians |
Q52551349 | Association of Common Variants in TGFA with Increased Risk of Knee Osteoarthritis Susceptibility. |
Q39380555 | Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt |
Q90871980 | Association of Desmin Gene Variant rs1058261 with Cardiovascular Disease, the TAMRISK Study |
Q54265508 | Association of E-cadherin single-nucleotide polymorphisms with the increased risk of breast cancer: a study in South Indian women. |
Q46478433 | Association of EGFR and HER2 polymorphisms with risk and clinical features of thyroid cancer |
Q89187013 | Association of EPHA3 Gene Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate |
Q55060070 | Association of Endothelial Nitric Oxide Synthase Gene Polymorphism with Susceptibility and Nephritis Development of Henoch-Schönlein Purpura in Chinese Han Children. |
Q41719178 | Association of Epstein Barr virus A73 gene polymorphism with nasopharyngeal carcinoma |
Q92388349 | Association of Foxp3 and TGF-β1 Polymorphisms with Pre-Eclampsia Risk in Chinese Women |
Q35093028 | Association of GCK -30G> a polymorphism with gestational diabetes mellitus and type 2 diabetes mellitus risk: a meta-analysis involving 18 case-control studies |
Q36979538 | Association of GSTM1 and GSTT1 genes with the susceptibility to male infertility: result from a meta-analysis |
Q92656536 | Association of Gene Polymorphisms in the Human MicroRNA-126 Gene with Plasma-Circulating MicroRNA-126 Levels and Acute Myocardial Infarction |
Q100481083 | Association of Genetic Variation in a Wnt Signaling Pathway Gene (β-Catenin) with Susceptibility to Leukoaraiosis |
Q90613448 | Association of High Mobility Group Box Protein B1 Gene Polymorphisms with Pneumonia Susceptibility and Severity |
Q38811266 | Association of IL-10-1082A/G Polymorphism with Ischemic Stroke: Evidence from a Case-Control Study to an Updated Meta-Analysis |
Q91930524 | Association of IL-13, S100B, and TLR-7 Gene Polymorphisms with Enterovirus 71 Infection in Hand, Foot, and Mouth Disease in China |
Q36104073 | Association of IL-6 Promoter and Receptor Polymorphisms with Multiple Myeloma Risk: A Systematic Review and Meta-Analysis |
Q39631705 | Association of Insulin-Like Growth Factor-1 Gene Polymorphisms with Different Types of Myopia in Egyptian Patients |
Q86837655 | Association of Irisin and CRP Levels with the Radiographic Severity of Knee Osteoarthritis |
Q41667962 | Association of KCNE1 genetic polymorphisms with atrial fibrillation in a Chinese Han population |
Q93060337 | Association of Killer Immunoglobulin-Like Receptor and Human Leukocyte Antigen Class I Ligand with Recurrent Abortion in Saudi Women |
Q51812846 | Association of Leukocyte Telomere Length and Mitochondrial DNA Copy Number in Children from Salamanca, Mexico. |
Q94510778 | Association of Long-Chain Noncoding RNA H19 and MEG3 Gene Polymorphisms and Their Interaction with Risk of Osteoarthritis in a Chinese Han Population |
Q54309866 | Association of MMP3-1171(5A>6A) polymorphism with lung cancer in Lebanon. |
Q55059750 | Association of MSX1 c.*6C > T Variant with Nonsyndromic Cleft Lip With or Without Cleft Palate in Turkish Patients. |
Q51566570 | Association of Matrilin-3 Gene Polymorphism with Temporomandibular Joint Internal Derangement. |
Q39079146 | Association of Methylenetetrahydrofolate Reductase C677T and Cystathionine β-Synthase Polymorphisms in Cardiovascular Disease in the Algerian Population |
Q104610700 | Association of Multiple Dopamine D3 Receptor Gene 3'UTR Polymorphisms with Susceptibility to Parkinson's Disease and Clinical Efficacy of Piribedil Therapy |
Q34283906 | Association of NCAM1 polymorphisms with autism and parental age at conception in a Chinese Han population |
Q38129113 | Association of P2X7 A1513C (rs3751143) gene polymorphism with risk of tuberculosis: evidence from a meta-analysis. |
Q91220254 | Association of PAI-1 4G/5G Polymorphism with Ischemic Stroke in Chinese Patients with Type 2 Diabetes Mellitus |
Q38852803 | Association of PAI-1 4G/5G and -844G/A gene polymorphisms and changes in PAI-1/tissue plasminogen activator levels in myocardial infarction: a case-control study |
Q91247543 | Association of PAR-2 Gene Polymorphisms with the Inflammatory Response and Susceptibility to Knee Osteoarthritis in the Chinese Han Population |
Q54381143 | Association of PON1 and APOA5 gene polymorphisms in a cohort of Indian patients having coronary artery disease with and without type 2 diabetes. |
Q89166809 | Association of Polymorphisms in CYBA, SOD1, and CAT Genes with Type 1 Diabetes and Diabetic Peripheral Neuropathy in Children and Adolescents |
Q36601860 | Association of Polymorphisms in Endothelial Nitric Oxide Synthesis and Renin-Angiotensin-Aldosterone System with Developing of Coronary Artery Disease in Bulgarian Patients. |
Q40859196 | Association of Pre-miRNA-499 rs3746444 and Pre-miRNA-146a rs2910164 Polymorphisms and Susceptibility to Behcet's Disease |
Q64985107 | Association of RETN and CAP1 SNPs, Expression and Serum Resistin Levels with Breast Cancer in Mexican Women. |
Q54312918 | Association of S549N and IVS8-5T splice variants with bronchial asthma and its severity in Indian children. |
Q87476226 | Association of SNP (-G1082A) IL-10 with increase in severity of periportal fibrosis in schistosomiasis, in the northeast of Brazil |
Q89935410 | Association of Serum Lipoprotein-Associated Phospholipase A2 and A379V Gene Polymorphisms with Carotid Plaques |
Q96227670 | Association of Single Nucleotide Polymorphisms of the IL-6, IL-10, and TNF-α Genes with Susceptibility to Gestational Diabetes Mellitus |
Q40191269 | Association of Single-Nucleotide Polymorphism in the Hepcidin Promoter Gene with Susceptibility to Extrapulmonary Tuberculosis |
Q37009393 | Association of TCF7L2 and ADIPOQ with body mass index, waist-hip ratio, and systolic blood pressure in an endogamous ethnic group of India |
Q43259056 | Association of TLR4 single-nucleotide polymorphisms and sarcoidosis in Greek patients. |
Q50984129 | Association of Three Single Nucleotide Polymorphisms in MTR and MTRR Genes with Lung Cancer in a Turkish Population. |
Q53879294 | Association of V249I and T280M polymorphisms in the chemokine receptor CX3CR1 gene with early onset of coronary artery disease among North Indians. |
Q92842758 | Association of VAMP8 rs1010 Polymorphism with Host Susceptibility to Pulmonary Tuberculosis in a Chinese Han Population |
Q54401128 | Association of Vascular Endothelial Growth Factor -2578C/A Gene Polymorphism in Chinese Patients with Colon Cancer |
Q34112144 | Association of Wnt1/beta-catenin with clinical pathological characteristics and prognosis of esophageal squamous cell carcinoma |
Q35008061 | Association of XPC gene polymorphisms with susceptibility to prostate cancer: evidence from 3,936 subjects |
Q38918144 | Association of ZAP70 and PTPN6, but Not BANK1 or CLEC2D, with inflammatory bowel disease in the Tunisian population. |
Q88783762 | Association of a Chromosome Locus 9p21.3 CDKN2B-AS1 Variant rs4977574 with Hypertension: The TAMRISK Study |
Q34780169 | Association of a methylene tetrahydrofolate reductase C677T polymorphism with several blood chemical levels in a Chinese population |
Q83861058 | Association of a single-nucleotide polymorphism in the promoter region of the VEGF gene with the risk of renal cell carcinoma |
Q54303639 | Association of androgen receptor, prostate-specific antigen, and CYP19 gene polymorphisms with prostate carcinoma and benign prostatic hyperplasia in a north Indian population. |
Q84298135 | Association of angiotensin I converting enzyme polymorphism as genetic risk factor in benign prostatic hyperplasia and prostate cancer |
Q82610188 | Association of angiotensin converting enzyme (insertion/deletion) gene polymorphism with essential hypertension in northern Indian subjects |
Q54308566 | Association of epidermal growth factor +61 A/G polymorphism in Chinese patients with colon cancer. |
Q37067080 | Association of epidermal growth factor and epidermal growth factor receptor polymorphisms with the risk of hepatitis B virus-related hepatocellular carcinoma in the population of North China |
Q45207506 | Association of estrogen receptor alpha gene polymorphisms and risk of fracture |
Q54323031 | Association of genetic polymorphism -670A>G in the Fas gene and serum markers AST platelet ratio index, AST/ALT with significant fibrosis and cirrhosis in chronic hepatitis C. |
Q37143059 | Association of genetic polymorphisms in matrix metalloproteinase-9 and coronary artery disease in the Chinese Han population: a case-control study |
Q34780200 | Association of genetic polymorphisms of EGFR with glioma in a Chinese population |
Q37398193 | Association of genetic polymorphisms with warfarin dose requirements in Chinese patients |
Q33705688 | Association of genetic variation of sodium taurocholate cotransporting polypeptide with chronic hepatitis B virus infection |
Q39135631 | Association of genetic variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 diabetes mellitus in Tunisia. |
Q37460212 | Association of glutathione S-transferase P1 (GSTP1) polymorphism with Tourette syndrome in Taiwanese patients |
Q83318754 | Association of heme oxygenase-1 gene polymorphisms with essential hypertension and blood pressure in the Chinese Han population |
Q84418841 | Association of interleukin-10 gene promoter polymorphism in allergic patients |
Q82784670 | Association of interleukin-10-1082 G/G genotype with lower mortality of acute respiratory distress syndrome in a Chinese population |
Q46328500 | Association of interleukin-6 -174 G>C promoter polymorphism with increased risk of type 2 diabetes mellitus patients with diabetic nephropathy in Turkey |
Q39628362 | Association of killer cell immunoglobulin-like receptor and human leukocyte antigen-C genotype with dry eye disease in a Chinese Han population |
Q35181540 | Association of luteinizing hormone chorionic gonadotropin receptor gene polymorphism (rs2293275) with polycystic ovarian syndrome |
Q83038467 | Association of methylene tetrahydrofolate reductase C677T genotype with type 2 diabetes mellitus patients with and without renal complications |
Q47731746 | Association of nicotinamide-N-methyltransferase gene rs694539 variant with patients with nonalcoholic steatohepatitis |
Q38120826 | Association of p53 Arg72Pro polymorphism with esophageal cancer: a meta-analysis based on 14 case-control studies |
Q45803407 | Association of paraoxonase1 gene Q192R polymorphism and apolipoprotein B in Asian Indian women with coronary artery disease risk |
Q44580247 | Association of peroxisome proliferator-activated receptor γ polymorphisms and haplotypes with essential hypertension |
Q102049616 | Association of rs2862851 in TGFA Gene with Peripheral TGFA Levels and the Severity of Knee Osteoarthritis in the Han Chinese Population |
Q46437061 | Association of rs4331426 and rs2057178 with Risk of Tuberculosis: Evidence from a Meta-Analysis |
Q86188750 | Association of rs7041 and rs4588 Polymorphisms of the Vitamin D Binding Protein and the rs10741657 Polymorphism of CYP2R1 with Vitamin D Status Among Jordanian Patients |
Q24658281 | Association of smoking behavior with an odorant receptor allele telomeric to the human major histocompatibility complex |
Q54164665 | Association of survivin promoter polymorphisms with inflammatory bowel disease and response to antitumor necrosis factor therapy. |
Q96581336 | Association of the -629C>A (rs1800775) CETP Polymorphism with the Development of Essential Hypertension in Mexican Population |
Q100532527 | Association of the 5HTTLPR Polymorphism with Obesity in Mexican Women with High Native American Ancestry |
Q52944954 | Association of the ACE I/D gene polymorphisms with JAK2V617F-positive polycythemia vera and essential thrombocythemia. |
Q36789363 | Association of the C677T polymorphism in the MTHFR gene with hemorrhagic stroke: a meta-analysis |
Q38904216 | Association of the C677T polymorphism in the human methylenetetrahydrofolate reductase (MTHFR) gene with the genetic predisposition for type 2 diabetes mellitus in a Moroccan population |
Q81202963 | Association of the CALM1 core promoter polymorphism with knee osteoarthritis in patients of Greek origin |
Q91797093 | Association of the Collagen Type IV Alpha 1 Chain Gene rs3783107 GG Genotype with Hypertension, Asthma, and Eczema: The Tampere Adult Population Cardiovascular Risk Study |
Q51759786 | Association of the G894T polymorphism of the endothelial nitric oxide synthase gene with diabetic foot syndrome foot ulcer, diabetic complications, and comorbid vascular diseases: a Turkish case-control study. |
Q96692441 | Association of the Genetic Polymorphisms rs6259 and rs727428 of the SHBG Gene with Polycystic Ovary Syndrome Risk: A Meta-Analysis |
Q100380505 | Association of the IL-1B rs1143623 Polymorphism and Cancer Risk: A Meta-Analysis |
Q89342909 | Association of the Interleukin-6 rs1800795 Polymorphism with Type 2 Diabetes Mellitus in the Population of the Island of Crete, Greece |
Q41083784 | Association of the Polymorphism in Nucleobindin 2 Gene and the Risk of Metabolic Syndrome |
Q85395737 | Association of the Polymorphism of TRAIL with the Risk and Severity of Lumbar Disc Degeneration in Chinese Han Population |
Q43109650 | Association of the polymorphisms of vitamin D receptor and aggrecan genes with degenerative disc disease |
Q36476775 | Association of uridine diphosphate-glucuronosyltransferase 2B gene variants with serum glucuronide levels and prostate cancer risk |
Q53266828 | Association of vitamin D receptor gene polymorphisms with colon cancer. |
Q30400805 | Association of β-Secretase Functional Polymorphism with Risk of Schizophrenia. |
Q43999003 | Association study between apolipoprotein E gene polymorphism and diabetic nephropathy in a Taiwanese population |
Q43736114 | Association study between the polymorphisms of the fat mass- and obesity-associated gene with the risk of intervertebral disc degeneration in the Han Chinese population |
Q39118243 | Association study of MICA-TM polymorphism with inflammatory bowel disease in the South Tunisian population |
Q36041685 | Association study of apolipoprotein L-I Lys166Glu and Ile244Met gene variants with obesity in Chinese subjects |
Q28236311 | Association study of human VN1R1 pheromone receptor gene alleles and gender |
Q46954720 | Association study of three microsatellite polymorphisms located in introns 1, 8, and 9 of DISC1 with schizophrenia in the Chinese Han population |
Q38380599 | Associations Among Glutathione S-Transferase T1, M1, and P1 Polymorphisms and the Risk of Oral Leukoplakia |
Q90120782 | Associations Between Genetic Polymorphisms in the VEGFA, ACE, and SOD2 Genes and Susceptibility to Diabetic Nephropathy in the Han Chinese |
Q93070767 | Associations Between IL-10 Polymorphisms and Susceptibility to Melanoma, Basal Cell Carcinoma, and Squamous Cell Carcinoma: A Meta-Analysis |
Q90026663 | Associations Between MTR A2756G, MTRR A66G, and TCN2 C776G Polymorphisms and Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate: A Meta-Analysis |
Q89342903 | Associations Between TP53 and MDM2 Polymorphisms and the Follicle-Stimulating Hormone/Luteinizing Hormone Ratio in Infertile Women |
Q52692896 | Associations Between Three CTLA-4 Polymorphisms and Hashimoto's Thyroiditis Risk: An Updated Meta-Analysis with Trial Sequential Analysis. |
Q46217684 | Associations between TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis |
Q40117053 | Associations between anticipated reactions to genetic test results and interest in genetic testing: will self-selection reduce the potential for harm? |
Q36889798 | Associations between single-nucleotide polymorphisms and epidural ropivacaine consumption in patients undergoing breast cancer surgery |
Q94935363 | Associations of Common Single Nucleotide Polymorphisms in miR-34b/c and miR-499 with Male Infertility Caused by Oligospermia or Azoospermia in the Chinese Population |
Q88328754 | Associations of IL-1, 6, and 10 Gene Polymorphisms with Susceptibility to Recurrent Aphthous Stomatitis: Insights from a Meta-Analysis |
Q54150356 | Associations of MicroRNA Polymorphisms (miR-146a, miR-196a2, and miR-499) with the Risk of Hypertension in the Korean Population. |
Q51347144 | Associations of TNFα-308G/A and TNFα-238G/A Polymorphisms with Ischemic Stroke in East Asians and Non-East Asians: A Meta-Analysis. |
Q38131082 | Associations of interleukin-4 receptor gene polymorphisms (Q551R, I50V) with rheumatoid arthritis: evidence from a meta-analysis. |
Q54352610 | Associations of receptor for advanced glycation end products -374 T/A and Gly82 Ser and peroxisome proliferator-activated receptor gamma Pro12Ala polymorphisms in Turkish coronary artery disease patients. |
Q33918807 | Associations of the single-nucleotide polymorphisms of the Mina gene with the development of asthma in Chinese Han children: a case-control study |
Q78178521 | Asymptomatic Gaucher disease implications for large-scale screening |
Q80521251 | Attitude toward genetic testing for cancer risk in Istanbul |
Q60636521 | Attitudes Toward Genetic Testing in Patients At Risk for HNPCC/FAP and the German Population |
Q91255906 | Attitudes Toward Psychiatric Genetic Testing and Research: A Comparative Study Between Denmark and Cuba |
Q80521215 | Attitudes about and psychosocial outcomes of HFE genotyping for hemochromatosis |
Q36789414 | Attitudes about regulation among direct-to-consumer genetic testing customers |
Q48269180 | Attitudes and anticipated reactions to genetic testing for cancer among patients in Mexico City |
Q46077316 | Attitudes and knowledge about genetic testing before and after finding the disease-causing mutation among individuals at high risk for familial, early-onset Alzheimer's disease |
Q51022938 | Attitudes and knowledge about presymptomatic genetic testing among individuals at high risk for familial, early-onset Alzheimer's disease. |
Q38816067 | Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis. |
Q40162123 | Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening |
Q53039766 | Attitudes to genetic testing in families with multiple cases of bipolar disorder. |
Q42646068 | Attitudes toward genetic testing for cancer risk after genetic counseling and decision support: a qualitative comparison between hereditary cancer types |
Q49009133 | Attitudes toward genetic testing in a german population |
Q36789382 | Audiologic and genetic features of the A3243G mtDNA mutation |
Q88089309 | Authors' Response to Wong et al |
Q57250763 | Automated Detection of Prevalent Mutations in BRCA1 and BRCA2 Genes, Using a Fluorogenic PCR Allelic Discrimination Assay |
Q73356717 | Automated, PCR-RFLP genotyping of the urokinase gene |
Q81693420 | Automatic scanning of interphase FISH for prenatal diagnosis in uncultured amniocytes |
Q33828345 | Awareness and uptake of direct-to-consumer genetic testing among cancer cases, their relatives, and controls: the Northwest Cancer Genetics Network |
Q85841217 | BCR-ABL1 kinase domain mutation analysis in an Irish cohort of chronic myeloid leukemia patients |
Q54323882 | BHMT G742A and MTHFD1 G1958A polymorphisms and Down syndrome risk in the Brazilian population. |
Q36553981 | BORIS, brother of the regulator of imprinted sites, is aberrantly expressed in hepatocellular carcinoma |
Q47805719 | BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and ovarian cancer |
Q80521224 | BRCA1 mutations in a population-based study of breast cancer in Stockholm County |
Q78178731 | BRCA1 screening in patients with a family history of breast or ovarian cancer |
Q56904426 | BRCA1/2 in high-risk African American women with breast cancer: providing genetic testing through various recruitment strategies |
Q64044812 | BRCA2 gene mutations in Slovenian male breast cancer patients |
Q82916521 | Barriers to genetic testing among persons at risk for alpha-1 antitrypsin deficiency |
Q83658962 | Beast of Burden? Comments on the NIH Genetic Testing Registry |
Q36368484 | Benefits and Risks of Sharing Genomic Information |
Q99410373 | Beyond Cultural Competency Training and Diversity and Inclusion Statements: The Quality of Genetic Testing for Asian Americans |
Q57640577 | Beyond Recommendation: Requiring Returning Findings to Research Participants |
Q48390051 | Beyond genetic tests and biomarkers: what about therapeutic misconception? |
Q73535673 | Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes |
Q46455225 | Bilateral transverse sinus thrombosis secondary to a homozygous C677T MTHFR gene mutation |
Q40290061 | Biobanking: Where Science and Society Meet |
Q51470069 | Biochip-Based Genotyping Assay for Detection of Polymorphisms in Pigmentation Genes Associated with Cutaneous Melanoma. |
Q90334078 | Bioinformatic Analysis Reveals Novel Immune-Associated Hub Genes in Human Membranous Nephropathy |
Q36966491 | Bipartisan Genetic Research Privacy Protection Act Introduced |
Q54494974 | Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene. |
Q37587913 | Bisphosphonates and risk of subtrochanteric, femoral shaft, and atypical femur fracture: sensitivity and trim and fill studies |
Q28143175 | Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing |
Q78178566 | Breast cancer susceptibility testing: Part 1 |
Q80757040 | Buccal cell DNA extraction: yield, purity, and cost: a comparison of two methods |
Q38134767 | C-reactive protein gene polymorphisms and myocardial infarction risk: a meta-analysis and meta-regression |
Q47367568 | C/EBPβ Promotion of MMP3-Dependent Tumor Cell Invasion and Association with Metastasis in Colorectal Cancer |
Q35967014 | C677T and A1298C polymorphisms of MTHFR gene and their relation to homocysteine levels in Turner syndrome |
Q92997228 | CCAAT/Enhancer Binding Protein β-Mediated MMP3 Upregulation Promotes Esophageal Squamous Cell Cancer Invasion In Vitro and Is Associated with Metastasis in Human Patients |
Q48000952 | CCR5-Delta32 allele frequencies in Ashkenazi Jews |
Q54178160 | CD36 gene variants in early prediction of type 2 diabetes mellitus. |
Q39157440 | CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening |
Q47281958 | COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century. |
Q93210521 | CRISPR-Cas9: New Heights, New Hesitations |
Q40516249 | CRP/IL-6/IL-10 Single-Nucleotide Polymorphisms Correlate with the Susceptibility and Severity of Community-Acquired Pneumonia |
Q38850166 | CTLA-4 +49 G/A Polymorphism Confers Autoimmune Disease Risk: An Updated Meta-Analysis |
Q36638561 | CTLA-4 polymorphisms and systemic lupus erythematosus: a comprehensive meta-analysis |
Q56900397 | CTLA4 gene polymorphisms in children and adolescents with autoimmune thyroid diseases |
Q34814581 | CYP1A1 gene polymorphisms and polycystic ovary syndrome risk: a meta-analysis and meta-regression |
Q83562316 | CYP1A1, CYP2E1, and GSTM1 gene polymorphisms and susceptibility to colorectal and gastric cancer among Lebanese |
Q56971150 | CYP2B6 gene single-nucleotide polymorphisms in an Italian population sample and relationship with nicotine dependence |
Q54274861 | CYP2C8 polymorphism frequencies among Han, Uighur, Hui, and Mongolian Chinese populations. |
Q39401669 | CYP2C9 and CYP2C19 Allele and Haplotype Distributions in Four Mestizo Populations from Western Mexico: An Interethnic Comparative Study. |
Q46970144 | CYP2C9 and VKORC1 polymorphisms are differently distributed in the Brazilian population according to self-declared ethnicity or genetic ancestry |
Q46448217 | CYP2D6 genotyping in natives and immigrants from the Emilia-Romagna Region (Italy). |
Q47580059 | CYP2J2 -50 G/T and ADRB2 G46A gene polymorphisms in Saudi subjects with hypertension |
Q49967487 | CYP3A Activity and Rivaroxaban Serum Concentrations in Russian Patients with Deep Vein Thrombosis |
Q44671253 | Calcium release from sarcoplasmic reticulum is facilitated in human myotubes derived from carriers of the ryanodine receptor type 1 mutations Ile2182Phe and Gly2375Ala |
Q51698530 | Calpain 10 SNP-44 gene polymorphism affects susceptibility to type 2 diabetes mellitus and diabetic-related conditions. |
Q33721302 | Canavan disease: diagnosis and molecular analysis |
Q34112137 | Cancer genetic risk assessment and referral patterns in primary care |
Q80974235 | Cancer genetics evaluation: barriers to and improvements for referral |
Q56996395 | Cancerous tissues in forensic genetic analysis |
Q51068988 | Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma. |
Q45872076 | Candidate gene analyses by scanning or brute force fluorescent sequencing: a comparison of DOVAM-S with gel-based and capillary-based sequencing |
Q38877395 | Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children |
Q38857090 | Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population |
Q37687779 | Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population |
Q41872699 | Carrier rates of four single-gene disorders in Croatian Bayash Roma |
Q45131122 | Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates |
Q73834635 | Carrier screening for Gaucher disease in couples of mixed ethnicity |
Q81158888 | Carrier screening for beta-thalassemia during pregnancy in India: a 7-year evaluation |
Q34364674 | Carrier screening for cystic fibrosis among Maryland obstetricians before and after the 1997 NIH Consensus Conference |
Q49058847 | Carrier screening for cystic fibrosis in a prenatal setting |
Q40783090 | Carrier testing of children for two X-linked diseases: a retrospective evaluation of experience and satisfaction of subjects and their mothers |
Q90774431 | Carrying the T Allele of the SNP rs574344, an eQTL of GSTM1, Contributes to Longevity in the Han Chinese Population |
Q90333947 | Cartilage Oligomeric Matrix Protein Levels in Type 2 Diabetes Associated with Primary Knee Osteoarthritis Patients |
Q30643379 | Case-specific, breakpoint-spanning DNA probes for analysis of single interphase cells |
Q51853185 | Catechol-O-methyltransferase gene polymorphisms are not associated with multisomatoform disorder in a group of German multisomatoform disorder patients and healthy controls. |
Q33721336 | Caught in the middle again: professional ethical considerations in genetic testing for health risks |
Q39203500 | Cell line identity finding by fingerprinting, an optimized resource for short tandem repeat profile authentication |
Q47663147 | Celtic origin of the C282Y mutation of hemochromatosis |
Q46048831 | Central retinal vein occlusion secondary to clomiphene treatment in a male carrier of factor V Leiden |
Q80521210 | Certificates of confidentiality |
Q35877556 | Certificates of confidentiality in research: rationale and usage |
Q40089999 | Changing of the Guard at GTMB. |
Q43926476 | Characteristics of dystrophin gene mutations among Chinese patients as revealed by multiplex ligation-dependent probe amplification |
Q59548809 | Characterization of Common BRCA1 and BRCA2 Variants |
Q128998276 | Characterization of Prognostic Apoptosis-Related Gene Signature to Evaluate Glioma Immune Microenvironment and Experimental Verification |
Q54394490 | Characterization of Y-chromosomal short tandem repeat markers in Pakistani populations. |
Q73535693 | Characterization of a novel D1S80 pseudoallele |
Q34121260 | Characterization of an interstitial deletion del(13)(q22q32) using microdissection and sequential FISH and G-banding |
Q47355683 | Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25. |
Q54560284 | Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments. |
Q78178615 | Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease |
Q47730723 | Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia |
Q80521229 | Characterization of two novel BRCA1 germ-line mutations involving splice donor sites |
Q54288070 | Childhood obesity and the role of dopamine D2 receptor and cannabinoid receptor-1 gene polymorphisms. |
Q46728110 | Cholesterol 7alpha-hydrolase (CYP7A1) c.-278A>C promoter polymorphism in gallstone disease patients |
Q42924066 | Cholesteryl Ester Transfer Protein Taq1B Polymorphism in an Angiographically Assessed Turkish Population: No Effects on Coronary Artery Disease Risk |
Q44274019 | Chromogenic Assay for Lung Cancer-Related EGFR Exon 19 Hotspot Deletion Mutations |
Q37773991 | Chromosomal distribution of disease genes in the human genome |
Q28187093 | Chromosome 10 |
Q28143438 | Chromosome 13 |
Q83626446 | Chromosome 15q21-22-related polymorphisms and haplotypes are associated with susceptibility to type-2 diabetic nonproliferative retinopathy |
Q28190289 | Chromosome 5 |
Q28204222 | Chromosome 6 |
Q28221244 | Chromosome 7 |
Q28215137 | Chromosome 8 |
Q39927263 | Chromosome instability in patients with chronic renal failure |
Q90769115 | Circular RNAs as Diagnostic Biomarkers for Osteoarthritis |
Q47782651 | Circulating Long Noncoding RNAs as Potential Biomarkers of Sepsis: A Preliminary Study. |
Q45892221 | Circulating miRNA-20a and miRNA-203 for screening lymph node metastasis in early stage cervical cancer |
Q104514696 | Clinical Effect of Driver Mutations of KRAS, CDKN2A/P16, TP53, and SMAD4 in Pancreatic Cancer: A Meta-Analysis |
Q91538512 | Clinical Exome Sequencing Identifies a Frameshift Mutation Within the STRC Gene in a United Arab Emirates Family with Profound Nonsyndromic Hearing Loss |
Q96770186 | Clinical Exome Sequencing Identifies a Novel Mutation of the GREB1L Gene in a Chinese Family with Renal Agenesis |
Q104139155 | Clinical Significance of POM121 Expression in Lung Cancer |
Q38844665 | Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations |
Q35376490 | Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes |
Q74741445 | Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: a survey of genetic counseling practice |
Q84454284 | Clinical relevance of vitamin C among lead-exposed infertile men |
Q45211692 | Clinical significance of cyclophilin a expression in esophageal squamous cell carcinoma |
Q38446472 | Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication |
Q92274971 | Clinicopathologic Features and the Prognostic Implications of Long Noncoding RNA HOTAIRM1 in Non-Small Cell Lung Cancer |
Q90869814 | Clinicopathological Significance of Decreased Expression of the Tumor Inhibitor Gene PDCD5 in Osteoclastoma |
Q100378671 | Clinicopathological and Prognostic Role of Programmed Cell Death-1 in Patients with Hepatocellular Carcinoma: A Systematic Review and Meta-Analysis |
Q77962869 | Closing the gaps in genetics legislation and policy: a report by the new york state task force on life and the law |
Q54781801 | Co-occurrence of sporadic parkinsonism and late-onset Alzheimer's disease in a Brazilian male with the LRRK2 p.G2019S mutation. |
Q97891254 | Coexistence of Fragile-X Syndrome, 8p23.1 Deletion, and Balanced Translocation t(7;10)(p10;q24) in a Single Family |
Q64043447 | Collaboration: the foundation for success in rare disease genetic test development |
Q54238064 | Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients. |
Q37196260 | Colorectal cancer cases and relatives of cases indicate similar willingness to receive and disclose genetic information. |
Q36041678 | Colorectal cancer survivors' interest in genetic testing for hereditary cancer: implications for universal tumor screening |
Q81468032 | Combination of Hb Knossos [Cod 27 (G-T)] and IVSII-745 (C-G) in a Turkish patient with beta-thalassemia major |
Q58193533 | Combinatorial Sequencing-by-Hybridization: Analysis of the NF1 Gene |
Q73834612 | Combine-ARMS: a rapid and cost-effective protocol for molecular characterization of beta-thalassemia in Malaysia |
Q58193536 | Combined Test for UGT1A1 –3279T→G and A(TA)nTAA Polymorphisms Best Predicts Gilbert's Syndrome in Italian Pediatric Patients |
Q84431107 | Combined effect of Factor V Leiden, MTHFR, and angiotensin-converting enzyme (insertion/deletion) gene mutations in hypertensive adult individuals: a population-based study from Sivas and Canakkale, Turkey |
Q43265639 | Combined hepatic lipase -514C/T and cholesteryl ester transfer protein I405V polymorphisms are associated with the risk of coronary artery disease |
Q85082187 | Come together, right now! |
Q51963732 | Comment: How many are too many when discussing triplet repeats in the FMR1 gene and the Fragile X syndrome? |
Q79733841 | Commentary: considering family covenants |
Q83107079 | Common European mitochondrial haplogroups in the risk for psoriasis and psoriatic arthritis |
Q44590504 | Common Mediterranean fever gene mutations in the Azeri Turkish population of Iran |
Q85380737 | Common RASGRP1 Gene Variants That Confer Risk of Type 2 Diabetes |
Q52371678 | Common Variants in ALPL Gene Contribute to the Risk of Kidney Stones in the Han Chinese Population. |
Q98154861 | Common Variants in ARG1 Gene Contributed to the Risk of Dilated Cardiomyopathy in the Han Chinese Population |
Q45970795 | Common genetic polymorphisms in the ABCB1 gene are associated with risk of major depressive disorder in male Portuguese individuals. |
Q54292606 | Common genetic variants of the BMP4, BMPR1A, BMPR1B, and ACVR1 genes, left ventricular mass, and other parameters of the heart in newborns. |
Q35115381 | Common polymorphisms in the interleukin-6 gene and myocardial infarction risk: a meta-analysis |
Q78178497 | Communicating chromosome rearrangements and their outcomes using simple computer-generated color ideograms |
Q42622464 | Communicating familial hypercholesterolemia genetic information within families |
Q38097962 | Companion diagnostic testing for targeted cancer therapies: an overview |
Q50240192 | Companion diagnostics: the next step in personalized clinical care. |
Q87791438 | Companions: tests and drug for better healthcare |
Q82206100 | Comparative study of three PCR-based copy number variant approaches, CFMSA, M-PCR, and MLPA, in 22q11.2 deletion syndrome |
Q81468062 | Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification |
Q50738010 | Comparison between the polymerase chain reaction-based screening and the Southern blot methods for identification of fragile X syndrome. |
Q47855430 | Comparison of KRAS mutation tests in colorectal cancer patients. |
Q48001033 | Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy. |
Q47222360 | Comparison of Suitability of the Most Common Ancient DNA Quantification Methods |
Q81352522 | Comparison of amplification refractory mutation system and polymerase chain reaction-restriction fragment length polymorphism techniques used for the investigation of MEFV gene exon 10 point mutations in familial Mediterranean fever patients living |
Q78178622 | Comparison of enzyme mismatch cleavage and chemical cleavage of mismatch on a defined set of heteroduplexes |
Q40806863 | Comparison of the Artus RotorGene and COBAS Ampliprep/COBAS TaqMan Platforms for the Detection of Cytomegalovirus: Experience of a Tertiary Care Center |
Q43265114 | Comparison of the cytogenetic and molecular analyses in the assessment of imatinib response in chronic myelocytic leukemia |
Q87053562 | Comparison of the performance of the Cepheid Xpert HemosIL Factor II and Factor V and the ViennaLab FV-PTH-MTHFR StripAssay kits for molecular thrombophilia profiling |
Q40425885 | Comparison of the results of PCR-RFLP and reverse hybridization methods used in molecular diagnosis of FMF. |
Q80080603 | Comparison of the validity of preimplantation genetic diagnosis for embryo chromosomal anomalies by fluorescence in situ hybridization on one or two blastomeres |
Q43880314 | Complement factor H variant p.Y402H in pseudoxanthoma elasticum patients |
Q84360869 | Complete FXN deletion in a patient with Friedreich's ataxia |
Q51963734 | Compound heterozygosity at the FMR1 gene. |
Q93097997 | Comprehensive Evaluation of the Factors Affecting Plasma Circulating Cell-Free DNA Levels and Their Application in Diagnosing Nonsmall Cell Lung Cancer |
Q40330607 | Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a "heterozygote advantage" in Turkey? |
Q44891502 | Comprehensive analysis of genetic polymorphisms in the interleukin-10 promoter: implications for immune regulation in specific ethnic populations |
Q38226935 | Comprehensive evaluation of the cytotoxic T-lymphocyte antigen-4 gene polymorphisms in risk of bone sarcoma |
Q78823851 | Comprehensive genetic counseling for families at risk for HNPCC: impact on distress and perceptions |
Q46534565 | Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography |
Q36107840 | Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns |
Q38381786 | Confidentiality in Biobanking Research: A Comparison of Donor and Nondonor Families' Understanding of Risks |
Q50492722 | Connexin-26 gene analysis in hearing-impaired newborns. |
Q50482902 | Connexin-30 deletion analysis in connexin-26 heterozygotes. |
Q51032532 | Considerations and recommendations for a new molecular diagnostic algorithm for the myeloproliferative neoplasms. |
Q42697686 | Considering the Benefits and Risks of Research Participants' Access to Sequence Data |
Q54636241 | Constitutional and somatic RB1 mutation spectrum in nonfamilial unilateral and bilateral retinoblastoma in India. |
Q84418838 | Consumer perceptions of genetic testing |
Q36225319 | Consumer perspectives on genetic testing for psychiatric disorders: the attitudes of veterans with posttraumatic stress disorder and their families |
Q33888377 | Contrasting the ethical perspectives of biospecimen research among individuals with familial risk for hereditary cancer and biomedical researchers: implications for researcher training. |
Q39247237 | Contribution of JAK2 and STAT3 variants to the genetic susceptibility of recurrent spontaneous miscarriage in a Tunisian population. |
Q38901718 | Contribution of eNOS variants to the genetic susceptibility of coronary artery disease in a Tunisian population. |
Q39201467 | Contributions of IKZF1, DDC, CDKN2A, CEBPE, and LMO1 Gene Polymorphisms to Acute Lymphoblastic Leukemia in a Yemeni Population |
Q33978777 | Coordination of TP53 abnormalities in breast cancer: data from analysis of TP53 polymorphisms, loss of heterozygosity, methylation, and mutations |
Q90625767 | Copy Number Variation in MUC5AC and Susceptibility to Allergic Rhinitis: A Low-Coverage Whole-Genome Sequencing and Validation Cohort Study |
Q84850043 | Copy number variation and incomplete linkage disequilibrium interfere with the HCP5 genotyping assay for abacavir hypersensitivity |
Q51753526 | Cornelia de Lange syndrome: a case study. |
Q57721696 | Correction |
Q90120778 | Correction to: Association Between the CYP4F2 Gene rs1558139 and rs2108622 Polymorphisms and Hypertension: A Meta-Analysis by Geng H, Li B, Wang Y, and Wang L. Genet Test Mol Biomarkers 2019;23:342-347. DOI: 10.1089/gtmb.2018.0202 |
Q91595234 | Correction to: CRP/IL-6/IL-10 Single-Nucleotide Polymorphisms Correlate with the Susceptibility and Severity of Community-Acquired Pneumonia by Chou S-C, Ko H-W, and Lin Y-C. Genet Test Mol Biomarkers 2016;20:732-740. DOI: 10.1089/gtmb.2016.0156 |
Q35202248 | Correlates of the FTO gene variant (rs9939609) and growth of American Indian infants |
Q50222757 | Correlation Between Mitochondrial DNA Content Measured in Myocardium and Peripheral Blood of Patients with Non-Ischemic Heart Failure. |
Q92116672 | Correlation Between Single Nucleotide Polymorphisms at the 3'-UTR of the NFKB1 Gene and Acute Kidney Injury in Sepsis |
Q96582117 | Correlation Between Single Nucleotide Polymorphisms of an miRNA Binding Site in the 3'UTR of PTEN and Risk of Cervical Cancer Among the Han Chinese |
Q89935377 | Correlation Between Single Nucleotide Polymorphisms of the rs664589 Locus in the Long-Chain Noncoding RNA Lung Adenocarcinoma Metastasis-Associated Gene 1, Hypertension, and Its Mechanism |
Q50594732 | Correlation between NAT2 gene polymorphism and cirrhotic portal hypertension in the Chinese population. |
Q84947231 | Correlation between common genetic variants and risk factors associated with prediction of cardiovascular diseases in dyslipidemic patients |
Q50602757 | Correlation of ECR1 A3650G polymorphism with neonatal respiratory distress syndrome. |
Q39089430 | Correlations Between COL2A and Aggrecan Genetic Polymorphisms and the Risk and Clinicopathological Features of Intervertebral Disc Degeneration in a Chinese Han Population: A Case-Control Study |
Q51090044 | Correlations Between LP-PLA2 Gene Polymorphisms and Susceptibility and Severity of Acute Pancreatitis in a Chinese Population. |
Q35127135 | Correlations of ANP genetic polymorphisms and serum levels with ischemic stroke risk: a meta-analysis |
Q58672299 | Counseling by computer: breast cancer risk and genetic testing. Developed by the University of Wisconsin-Madison Department of Medicine and the Program in Medical Ethics |
Q73561056 | Criteria for newborn screening |
Q49986862 | Crohn's Disease Candidate Gene Alleles Predict Time to Progression from Inflammatory B1 to Stricturing B2, or Penetrating B3 Phenotype |
Q51336396 | Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population. |
Q50745715 | Cross-Validation of High-Resolution Melting Analysis-Based Genotyping Platform. |
Q45399093 | Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population. |
Q49668003 | Curcumin Suppresses In Vitro Proliferation and Invasion of Human Prostate Cancer Stem Cells by Modulating DLK1-DIO3 Imprinted Gene Cluster MicroRNAs |
Q38206225 | Current status of the use of single-nucleotide polymorphisms in forensic practices. |
Q35158659 | Cx37 C1019T polymorphism may contribute to the pathogenesis of coronary heart disease |
Q33721318 | Cystic fibrosis carrier population screening: a review |
Q46385197 | Cystic fibrosis carrier screening in obstetric clinical practice: knowledge, practices, and barriers, a decade after publication of screening guidelines |
Q50143496 | Cystic fibrosis carrier screening practices in an ethnically diverse region: experience of the Genetic Network of the Empire State, Puerto Rico, and the U.S. Virgin Islands |
Q77480341 | Cystic fibrosis carrier screening: steps in the development of a mutation panel |
Q84769570 | Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients |
Q33721312 | Cystic fibrosis in Jews: frequency and mutation distribution |
Q77480345 | Cystic fibrosis mutation testing in Italy |
Q81352528 | Cystic fibrosis newborn screening: a pilot study to maximize carrier screening |
Q39011246 | Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia |
Q73561072 | Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508 |
Q35609439 | Cytochrome 4A11 Genetic Polymorphisms Increase Susceptibility to Ischemic Stroke and Associate with Atherothrombotic Events After Stroke in Chinese |
Q39621412 | Cytochrome P450 (CYP3A4*18) and glutathione-S-transferase (GSTP1) polymorphisms in a healthy Tunisian population |
Q39881244 | Cytochrome P4502E1 (CYP2E1) genetic polymorphisms in a Lebanese population: frequency distribution and association with morbid diseases |
Q39304923 | Cytogenetic activity of diazepam in normal human lymphocyte cultures |
Q43107324 | Cytogenetic activity of newly synthesized 1,5-benzodiazepines in normal human lymphocyte cultures |
Q51552104 | Cytogenetic analysis of 1572 cases of Down syndrome: a report of double aneuploidy and novel findings 47,XY, t(14;21)(q13;q22.3)mat,+21 and 45,XX,t(14;21) in an Indian population. |
Q38858056 | Cytogenetic analysis of 5572 patients referred for suspected chromosomal abnormalities in Morocco |
Q43213018 | Cytogenetic and antineoplastic effects of modified steroidal alkylators |
Q84570594 | Cytogenetic damage after ischemia and reperfusion |
Q54321555 | Cytokine gene polymorphisms in the susceptibility to acute coronary syndrome. |
Q44842099 | Cytotoxic T-lymphocyte antigen-4 +49G/A polymorphism is associated with increased risk of osteosarcoma |
Q54269032 | Cytotoxic T-lymphocyte antigen-4 genetic variants and risk of Ewing's sarcoma. |
Q34641619 | Cytotoxic T-lymphocyte antigen-4 polymorphisms and susceptibility to Ewing's sarcoma |
Q44574894 | D18S880 microsatellite polymorphism of carnosinase gene and diabetic nephropathy: a meta-analysis |
Q89716704 | DEFB4A Promoter Polymorphism Is Associated with Chronic Periodontitis: A Case-Control Study |
Q36720665 | DHFR 19-bp deletion and SHMT C1420T polymorphisms and metabolite concentrations of the folate pathway in individuals with Down syndrome |
Q54421039 | DHPLC analysis of adenomatous polyposis coli (APC) mutations using ready-to-use APC plates: simple detection of multiple base pair deletion mutations. |
Q38373906 | DNA Methylome Profiling on the Infinium HumanMethylation450 Array from Limiting Quantities of Genomic DNA from a Single, Small Archived Bloodspot |
Q34021177 | DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities. |
Q82626872 | DNA copy number changes and immunophenotype pattern in karyotypically normal acute myeloid leukemia patients from an Indian population |
Q38081199 | DNA methylation biomarkers of stool and blood for early detection of colon cancer |
Q53274835 | DNA repair gene XRCC3 T241M polymorphism and bladder cancer risk in a Chinese population. |
Q39423474 | DNA repair gene polymorphisms at XRCC1 (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population: interethnic variation and functional prediction. |
Q51748357 | DNA repair gene variants in migraine. |
Q41748000 | DNA repair genes XRCC1 and ERCC1 polymorphisms and the risk of sporadic breast cancer in Han women in the Gansu Province of China |
Q48724609 | DNA repair genes in Parkinson's disease |
Q30482861 | DNA-based genetic testing is rising steeply in a national health care system with open access to services: a survey of genetic test use in Germany, 1996-2002. |
Q51828104 | Dangerous Liaisons: Connecting CRISPR/Cas9 to Clinical Science. |
Q42646366 | Data Sharing as the New Norm: What About the People Part? |
Q51038451 | De novo produced anti-human leukocyte antigen antibodies relation to alloimmunity in patients with chronic renal failure. |
Q40658424 | Debunking the Myth of the Genetic Superman |
Q53230104 | Decision analysis and Alzheimer disease: three case studies. |
Q46750813 | Decision analysis of prenatal testing for chromosomal disorders: what do the preferences of pregnant women tell us? |
Q51697545 | Decorin Genotypes, Serum Glucose, Heart Rate, and Cerebrovascular Events: The Tampere Adult Population Cardiovascular Risk Study. |
Q39719014 | Deep Sequencing of Cell-Free Peripheral Blood DNA as a Reliable Method for Confirming the Diagnosis of Myelodysplastic Syndrome |
Q41687393 | Defining dementia: social and historical background of Alzheimer disease |
Q53413328 | Deiodinases, Organic Anion Transporter Polypeptide Polymorphisms, and Thyroid Hormones in Patients with Myocardial Infarction. |
Q78178504 | Deleterious mutations of both BRCA1 and BRCA2 in three siblings |
Q81347852 | Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR |
Q54484594 | Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality. |
Q81826211 | Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families |
Q73535697 | Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations |
Q84042720 | Delta-sarcoglycan gene polymorphism frequency in Amerindian and Mestizo populations of Mexico |
Q78178619 | Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders |
Q79327678 | Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A |
Q73356709 | Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients |
Q33150741 | Denaturing high-performance liquid chromatography quickly and reliably detects cardiac ion channel mutations in long QT syndrome |
Q59416417 | Description of the First Two Seemingly Unrelated Greek Cypriot Families with a Common C618R RET Proto-Oncogene Mutation |
Q89972589 | Design and Evaluation of a Method for Testing Polymorphisms of Folate-Related Genes Using the Luminex Liquichip System |
Q47913123 | Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis |
Q54459935 | Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison. |
Q93098003 | Design of a Targeted Sequencing Assay to Detect Rare Mutations in Circulating Tumor DNA |
Q91192644 | Detection of BRAFV600E Mutation in Melanoma Patients by Digital PCR of Circulating DNA |
Q34011501 | Detection of C282Y and H63D in the HFE gene |
Q36789391 | Detection of CEBPA double mutants in acute myeloid leukemia using a custom gene expression array |
Q45368193 | Detection of Epstein-Barr virus DNA in serum or plasma for nasopharyngeal cancer: a meta-analysis |
Q40393954 | Detection of MEFV gene mutations in patients with inflammatory bowel disease |
Q44558751 | Detection of PAX2 deletions and duplications using multiplex ligation-dependent probe amplification |
Q92746283 | Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden |
Q86389634 | Detection of Turner Syndrome by quantitative PCR of SHOX and VAMP7 genes |
Q48000927 | Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for fragile X syndrome |
Q73535678 | Detection of an unusual combination of mutations in the HFE gene for hemochromatosis |
Q87265453 | Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing |
Q84454269 | Detection of deletions/duplications in α-globin gene cluster by multiplex ligation-dependent probe amplification |
Q43199270 | Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations |
Q46083232 | Detection of mitochondrial DNA mutations in nonmuscle invasive bladder cancer |
Q36720677 | Detection of mutant NPM1 mRNA in acute myeloid leukemia using custom gene expression arrays |
Q45888031 | Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification |
Q43296458 | Detection of non-DeltaGT NCF-1 mutations in chronic granulomatous disease |
Q53404884 | Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCR. |
Q54667695 | Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR. |
Q39122940 | Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography. |
Q77962898 | Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay |
Q78178608 | Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system |
Q39765504 | Detection of somatic mutations and germline polymorphisms in mitochondrial DNA of uterine fibroids patients |
Q54613074 | Detection of spinal muscular atrophy carriers by nested polymerase chain reaction of single sperm cells. |
Q43858338 | Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss |
Q48287595 | Detection of the G-->T polymorphism at the Sp1 binding site of the collagen type I alpha 1 gene by a novel ARMS-PCR method |
Q47717882 | Detection of the TLR4 1196C>T polymorphism by mismatched-polymerase chain reaction using plasmid DNA as internal control in restriction fragment length polymorphism assays. |
Q35888683 | Detection of thrombophilic mutations related to spontaneous abortions by a multiplex SNaPshot method |
Q87317709 | Detection of β-Thalassemia Mutations Using TaqMan Single Nucleotide Polymorphism Genotyping Assays |
Q33331447 | Determination of HER-2/Neu status in hepatocellular carcinoma cases |
Q28304495 | Determination of O⁶-methylguanine DNA methyltransferase promoter methylation in non-small cell lung cancer |
Q43040984 | Determination of hepatitis C virus genotypes in pruritus patients in saudi arabia |
Q44254568 | Determination of melting temperature for variant detection using dHPLC: a comparison between an empirical approach and DNA melting prediction software |
Q46669740 | Developing genetic privacy legislation: the South Carolina experience |
Q37982098 | Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence? |
Q54780629 | Developing the Scientific Infrastructure to Produce Ethnogenetically-Specific Personalized Medicine. |
Q91538540 | Development and Cross-Validation of High-Resolution Melting Analysis-Based Cardiovascular Pharmacogenetics Genotyping Panel |
Q40388514 | Development and Validation of a New Molecular Diagnostic Assay for Detection of Myotonic Dystrophy Type 2. |
Q46373639 | Development and pilot evaluation of novel genetic educational materials designed for an underserved patient population |
Q50765331 | Development and pilot testing of a decision aid for men considering genetic testing for breast and/or ovarian cancer-related mutations (BRCA1/2). |
Q80974258 | Development and preliminary validation of the cancer family impact scale for colorectal cancer |
Q49967491 | Development of a Polymerase Chain Reaction/Ligase Detection Reaction Assay for Detection of CYP2C19 Polymorphisms |
Q93364644 | Development of a Simple and Cost-Effective Method Based on T7 Endonuclease Cleavage for Detection of Single Nucleotide Polymorphisms |
Q47565286 | Development of a Targeted Next-Generation Sequencing Assay to Detect Diagnostically Relevant Mutations of JAK2, CALR, and MPL in Myeloproliferative Neoplasms |
Q49967505 | Development of a Trio of Potential Biomarkers for Cancer Prognosis |
Q36110695 | Development of a brochure for increasing awareness of inherited breast cancer in black women. |
Q44793038 | Development of a high-resolution melting analysis for the detection of the SF3B1 mutations |
Q73015982 | Development of a highly accurate, rapid PCR-RFLP genotyping assay for the methylenetetrahydrofolate reductase gene |
Q40321138 | Development of a method to control the RNA extraction and reverse transcription steps for the detection of dengue virus present in human blood samples |
Q45854149 | Development of a nonfluorescent multiplex semiquantitative polymerase chain reaction to confirm rearrangements detected by array-comparative genomic hybridization |
Q51298299 | Development of an oligochip for genotyping human leukocyte antigen-B51 and its clinical application. |
Q46676624 | Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. |
Q84769558 | Diagnosis of Down syndrome and detection of origin of nondisjunction by short tandem repeat analysis |
Q54459914 | Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay. |
Q78178626 | Diagnosis of ataxia telangiectasia with the glycophorin A somatic mutation assay |
Q84242147 | Diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening evaluation for SMN1 deletions and intragenic mutations |
Q44103043 | Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol |
Q96222497 | Diagnostic Potential of MicroRNAs as Biomarkers in the Detection of Preeclampsia |
Q89166851 | Diagnostic Value of the Survivin Autoantibody in Four Types of Malignancies |
Q38123525 | Diagnostic accuracy of glycosylated hemoglobin in chinese patients with gestational diabetes mellitus: a meta-analysis based on 2,812 patients and 5,918 controls |
Q45814522 | Diagnostic and prognostic scoring system for prostate cancer using urine and plasma biomarkers |
Q80080574 | Diagnostic genetic testing for hereditary breast and ovarian cancer in cancer patients: women's looking back on the pre-test period and a psychological evaluation |
Q35192310 | Diagnostic significance of serum osteopontin level for pancreatic cancer: a meta-analysis |
Q80080591 | Diagnostic test for Y chromosome microdeletion screening in male infertility |
Q36789409 | Diagnostic value of circulating microRNAs for lung cancer: a meta-analysis |
Q87068723 | Diagnostics are the vanguard of medicine |
Q90869762 | Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing |
Q40579613 | Differences between African Americans and Whites in their attitudes toward genetic testing for Alzheimer's disease |
Q36218985 | Different Contributions of CDKAL1, KIF21B, and LRRK2/MUC19 Polymorphisms to SAPHO Syndrome, Rheumatoid Arthritis, Ankylosing Spondylitis, and Seronegative Spondyloarthropathy |
Q79186938 | Different genes and polymorphisms affecting high-density lipoprotein cholesterol levels in Greek familial hypercholesterolemia patients |
Q40425478 | Different intrafamilial clinical presentation of FMF mutation carriers |
Q104129571 | Differential Expression of miR-21, miR-23a, and miR-27a, and Their Diagnostic Significance in Egyptian Colorectal Cancer Patients |
Q42966045 | Differential methylation as a cause of allele dropout at the imprinted GNAS locus |
Q36041632 | Differentiation of African components of ancestry to stratify groups in a case-control study of a Brazilian urban population. |
Q45063084 | Direct-to-Consumer Genetic Testing and Orphan Drug Development |
Q38575107 | Direct-to-consumer genetic testing: a systematic review of european guidelines, recommendations, and position statements. |
Q82890863 | Direct-to-consumer marketing of genetic tests: access does not reflect clinical utility |
Q45302399 | Disclosure of Huntington's disease to family members: the dilemma of known but unknowing parties |
Q36052698 | Disclosure of genetic information obtained through research |
Q42670688 | Disclosure of personal medical information: differences among parents and affected adults for genetic and nongenetic conditions |
Q47327771 | Discovery of children's carrier status for recessive genetic disease: some ethical issues |
Q51746462 | Discrepancies between estimated and perceived risk of cancer among individuals with hereditary nonpolyposis colorectal cancer. |
Q44372801 | Discrepancy between initial high expression of interest in clinical cancer genetic testing and actual low uptake in an Asian population |
Q54302887 | Discrepancy in the frequency of Y chromosome microdeletions among Iranian infertile men with azoospermia and severe oligozoospermia. |
Q28143171 | Disease genes and chromosomes: disease maps of the human genome |
Q28202026 | Disease genes and chromosomes: disease maps of the human genome |
Q28142265 | Disease genes and chromosomes: disease maps of the human genome. Chromosome 14 |
Q28144859 | Disease genes and chromosomes: disease maps of the human genome. Chromosome 15 |
Q28143186 | Disease genes and chromosomes: disease maps of the human genome. Chromosome 16 |
Q28143158 | Disease genes and chromosomes: disease maps of the human genome. Chromosome 17 |
Q28143162 | Disease genes and chromosomes: disease maps of the human genome. Chromosome 18 |
Q28143166 | Disease genes and chromosomes: disease maps of the human genome. Chromosome 19 |
Q28143183 | Disease genes and chromosomes: disease maps of the human genome. Chromosome 21 |
Q28143156 | Disease genes and chromosomes: disease maps of the human genome. Chromosome 22 |
Q28248351 | Disease genes and chromosomes: disease maps of the human genome. Chromosome 4 |
Q28215906 | Disease genes and chromosomes: disease maps of the human genome. Chromosome 9 |
Q28141806 | Disease genes and chromosomes: disease maps of the human genome.Chromosome 12 |
Q51818334 | Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology. |
Q42324494 | Distribution of CYP2D6 and CYP2C19 polymorphisms associated with poor metabolizer phenotype in five Amerindian groups and western Mestizos from Mexico. |
Q54473731 | Distribution of cytokine gene polymorphisms in the general Lebanese population: the first report. |
Q39909878 | Distribution of glutathione S-transferase T1 and M1 genes polymorphisms in North East Indians: a potential report |
Q34967760 | Distribution of killer cell immunoglobulin-like receptor (KIR) genotypes in patients with familial Mediterranean fever. |
Q84794461 | Distribution of polymorphisms in cytochrome P450 2B6, histocompatibility complex P5, chemokine coreceptor 5, and interleukin 28B genes in inhabitants from the central area of Argentina |
Q36308201 | Distribution of the IL-1RN, IL-6, IL-10, INF-γ, and TNF-α Gene Polymorphisms in the Mexican Population. |
Q53474737 | Do inherited disease genes have distinguishing functional characteristics? |
Q35865197 | Do the aryl hydrocarbon receptor interacting protein variants (Q228K and Q307R) play a role in patients with familial and sporadic hormone-secreting pituitary adenomas? |
Q40415673 | Does genetic counseling have any impact on management of breast cancer risk? |
Q44103039 | Does prenatal screening for 5,10-methylenetetrahydrofolate reductase (MTHFR) mutations in high-risk neural tube defect pregnancies make sense? |
Q51364715 | Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease? |
Q59423409 | Does the Level of WT1 Expression Predict the Outcome in Philadelphia-Negative Myeloproliferative Neoplasms? |
Q57643387 | Don't just invite us to the table: authentic community engagement |
Q35888712 | Donation intentions for cancer genetics research among African Americans |
Q39084098 | Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy |
Q35693739 | Down syndrome: parental origin, recombination, and maternal age. |
Q93124227 | Downregulated Expression of Chromobox Homolog 7 in Hepatocellular Carcinoma |
Q96581378 | Downregulation of Collagen COL4A6 Is Associated with Prostate Cancer Progression and Metastasis |
Q38887098 | Downregulation of VANGL1 inhibits cellular invasion rather than cell motility in hepatocellular carcinoma cells without stimulation |
Q91930560 | Dual-Targeting of miR-124-3p and ABCC4 Promotes Sensitivity to Adriamycin in Breast Cancer Cells |
Q80757032 | Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family |
Q51648682 | Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases. |
Q90656859 | Dysregulation of the Urothelial Cancer Associated 1 Long Noncoding RNA Promotes Proliferation of Vascular Smooth Muscle Cells by Modulating Expression of P27KIP1/CDK2 |
Q51429911 | Dystrophin gene mutation analysis in Iranian males and females using multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification methods. |
Q53974954 | Dystrophin point mutation screening using a multiplexed protein truncation test. |
Q74210406 | Early detection of genetic hemochromatosis: should all young adults be offered the genetic test? |
Q50440001 | Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population. |
Q34439851 | Ebola hemorrhagic fever: genetic biomarkers and vaccine development |
Q38046258 | Economic evaluations conducted for assessment of genetic testing technologies: a systematic review |
Q83095616 | Ectonucleotide pyrophosphatase/phosphodiesterase 1 K173Q polymorphism is associated with diabetic nephropathy in the Taiwanese population |
Q50745719 | Ectopic High Expression of E2-EPF Ubiquitin Carrier Protein Indicates a More Unfavorable Prognosis in Brain Glioma. |
Q78823835 | Editor's comment: colon cancer carrier screening enters the genetic testing arena |
Q44238737 | Education may improve the underutilization of genetic services by Middle Eastern primary care practitioners |
Q38380148 | Effect of ATM-111 (G>A) Polymorphism on Cancer Risk: A Meta-Analysis |
Q39038584 | Effect of Interleukin-27 Genetic Variants on Atrial Fibrillation Susceptibility |
Q53670904 | Effect of benzene exposure on fertility of male workers employed in bulk drug industries. |
Q46407959 | Effect of cyclosporin A and tacrolimus on sister chromatid exchange frequency in renal transplant patients |
Q28299523 | Effect of estrogen receptor β A1730G polymorphism on ABCA1 gene expression response to postmenopausal hormone replacement therapy |
Q87486242 | Effect of the -2081G/A polymorphism of the TLR4 gene and its interaction with Helicobacter pylori infection on the risk of gastric cancer in Chinese individuals |
Q35115336 | Effects of MTHFR genetic polymorphisms on toxicity and clinical response of irinotecan-based chemotherapy in patients with colorectal cancer |
Q38126071 | Effects of OPRM1 A118G polymorphism on epidural analgesia with fentanyl during labor: a meta-analysis |
Q90754000 | Effects of a Polymorphism in the Promoter Region of the Follicle-Stimulating Hormone Subunit Beta (FSHB) Gene on Female Reproductive Outcomes |
Q38398512 | Effects of interleukin-10 polymorphisms (rs1800896, rs1800871, and rs1800872) on breast cancer risk: evidence from an updated meta-analysis |
Q53868338 | Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum. |
Q34190912 | Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. |
Q73742280 | Efficient mutation detection in mismatch repair genes using a combination of single-strand conformational polymorphism and heteroduplex analysis at a controlled temperature |
Q49423618 | Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria |
Q73338754 | Elastin region deletions in Williams syndrome |
Q53091643 | Elevated Levels of Protein Disulfide Isomerase and Binding Immunoglobulin Protein Implicated in Spinal Cord Injury Paraplegia Patients with Pressure Ulcers. |
Q46327793 | Elevated Serum Level of CA125 Is a Biomarker That Can Be Used to Alter Prognosis Determined by BRCA Mutation and Family History in Ovarian Cancer |
Q97676514 | Elucidation of the Mechanism by Which a ADAMTS5 Gene MicroRNA-Binding Site Single Nucleotide Polymorphism Affects the Risk of Osteoarthritis |
Q34439845 | Endothelial lipase-384A/C polymorphism is associated with acute coronary syndrome and lipid status in elderly Uygur patients in Xinjiang |
Q36092727 | Endothelial nitric oxide synthase (G894T) gene polymorphism in a random sample of the Egyptian population: comparison with myocardial infarction patients |
Q28259108 | Endothelial nitric oxide synthase gene polymorphisms and the risk of diabetic nephropathy in type 2 diabetes mellitus |
Q56775892 | Engaging research participants and building trust |
Q37142951 | Enhanced primer selection and synthetic amplicon templates optimize high-resolution melting analysis of single-nucleotide polymorphisms in a large population |
Q83038472 | Epidermal growth factor +61 G/A polymorphism and the risk of hepatocellular carcinoma in a Chinese population |
Q34361442 | Epidermal growth factor 61A>G polymorphism is associated with risk of hepatocellular carcinoma: a meta-analysis |
Q50890894 | Epigenetic Changes of the ESR1 Gene in Breast Tissue of Healthy Women: A Missing Link with Breast Cancer Risk Factors? |
Q40578486 | Epigenetics and Racial Health Inequities |
Q33721286 | Establishing criteria for a carrier detection panel: lessons from the Ashkenazi Jewish model |
Q78178646 | Estimated contribution of known ataxia genes in ataxia patients undergoing DNA testing |
Q98215229 | Estimates of European American Ancestry in African Americans Using HFE p.C282Y |
Q50626570 | Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system. |
Q57417529 | Estrogen Receptor 2 Polymorphism and Carotid Intima-Media Thickness |
Q47717898 | Estrogen receptor beta gene variant is associated with vascular dementia in elderly women |
Q35036602 | Ethnic differences in the association of thrombophilic polymorphisms with obstetric complications in Slovak and Roma (Gypsy) populations |
Q46356037 | Ethnic differences in the frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in healthy Israeli populations |
Q43932099 | Ethnic differences in the frequency of the cardioprotective C679X PCSK9 mutation in a West African population |
Q56785058 | Evaluating online direct-to-consumer marketing of genetic tests: informed choices or buyers beware? |
Q48017414 | Evaluating the Association of Common Variants of the SLC44A4 Gene with Ulcerative Colitis Susceptibility in the Han Chinese Population |
Q37567826 | Evaluating the psychological effects of genetic testing in symptomatic patients: a systematic review |
Q91571873 | Evaluation of Association of Vitamin D Receptor Genetic Polymorphism with Severe Chronic Periodontitis in an Ethnic Tamilian Population |
Q54394488 | Evaluation of Aurora-A gene polymorphism and esophageal cancer risk in a South Indian population. |
Q93097979 | Evaluation of Biochemical Parameters Present in the Saliva of Patients with Chronic Periodontitis: Results from a Meta-Analysis |
Q56980491 | Evaluation of Common Variants in Matrix Metalloproteinase-9 Gene with Lumbar Disc Herniation in Han Chinese Population |
Q95926424 | Evaluation of Common Variants in the AKNA Gene and Susceptibility to Knee Osteoarthritis Among the Han Chinese |
Q96227674 | Evaluation of Endocan and Tumor Necrosis Factor-α as Inflammatory Biomarkers in Type 2 Diabetes and Periodontal Disease |
Q92366462 | Evaluation of Ficolin-3 as a Potential Prognostic Serum Biomarker in Chinese Patients with Esophageal Cancer |
Q34439986 | Evaluation of GenoFlow Thrombophilia Array Test Kit in its detection of mutations in Factor V Leiden (G1691A), prothrombin G20210A, MTHFR C677T and A1298C in blood samples from 113 Turkish female patients |
Q33705286 | Evaluation of MYOC, ACAN, HGF, and MET as candidate genes for high myopia in a Han Chinese population |
Q51068992 | Evaluation of a Panel of Single-Nucleotide Polymorphisms in miR-146a and miR-196a2 Genomic Regions in Patients with Chronic Periodontitis. |
Q44487287 | Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan |
Q47717860 | Evaluation of angiotensinogen c.1-44G>A and p.M268T variants as risk factors for fibrosis progression in chronic hepatitis C and liver diseases of various etiologies |
Q84086207 | Evaluation of array comparative genomic hybridization for genetic analysis of chorionic villus sampling from pregnancy loss in comparison to karyotyping and multiplex ligation-dependent probe amplification |
Q50488169 | Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness. |
Q53210917 | Evaluation of genetic status of HER-2/neu and aneusomy 17 by fluorescence in situ hybridization and comparison with immunohistochemistry assay from Indian breast cancer patients. |
Q33721235 | Evaluation of genetic tests: APOE genotyping for the diagnosis of Alzheimer disease |
Q30580926 | Evaluation of genotype data in clinical risk assessment: methods and application to BRCA1, BRCA2, and N-acetyl transferase-2 genotypes in breast cancer |
Q54323917 | Evaluation of glutathione S-transferase P1 polymorphisms (Ile105Val and Ala114Val) in patients with small cell lung cancer. |
Q37277638 | Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance. |
Q94606520 | Evaluation of the Genetic Association and mRNA Expression of the COL1A1, BMP2, and BMP4 Genes in the Development of Otosclerosis |
Q51566391 | Evaluation of the IL1 Gene Cluster Single Nucleotide Polymorphisms in Primary Open-Angle Glaucoma Pathogenesis. |
Q91846042 | Evaluation of the Relationship Between Common Variants in the TLR-9 Gene and Hip Osteoarthritis Susceptibility |
Q34978005 | Evaluation of the SMN and NAIP genes in a family: homozygous deletion of the SMN2 gene in the fetus and outcome of the pregnancy |
Q36408110 | Evaluation of the association between the ADRA2A genetic polymorphisms and type 2 diabetes in a Chinese Han population |
Q38852800 | Evaluation of the contribution of renin angiotensin system polymorphisms to the risk of coronary artery disease among Tunisians. |
Q54655246 | Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer. |
Q50783654 | Evaluation of the human fragile X mental retardation 1 polymerase chain reaction reagents to amplify the FMR1 gene: testing in a clinical diagnostic laboratory. |
Q73742306 | Evaluation of the prothrombin gene polymorphism in patients with advanced retinopathy of prematurity |
Q59416418 | Evidence for Association of Endothelial Cell Nitric Oxide Synthase Gene Polymorphism with Earlier Progression to End-Stage Renal Disease in a Cohort of Hellens from Greece and Cyprus |
Q43416900 | Evidence for contribution of the y chromosome in atherosclerotic plaque occurrence in men. |
Q28236475 | Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution |
Q39103293 | Evidence from a Ghanaian population of known African descent to support the proposition that hemochromatosis is a Caucasian disorder |
Q40540252 | Evolution of Hereditary Breast Cancer Genetic Services: Are Changes Reflected in the Knowledge and Clinical Practices of Florida Providers? |
Q48067021 | Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients |
Q52864171 | Exon deletions and duplications in BRCA1 detected by semiquantitative PCR. |
Q88732418 | Expanded Carrier Screening and Its Implications on Genetic Testing Protocols |
Q87301352 | Expanding the Scope of our Journal to Include Molecular Diagnostics for Infectious Diseases |
Q93060342 | Experimental Study and Clinical Observation on the Improvement Effect of Lienal Polypeptide on Blood Toxicity and Immune Injury Induced by Radiotherapy |
Q34077824 | Explaining behavior change after genetic testing: the problem of collinearity between test results and risk estimates |
Q92274873 | Exploration of the Serum Interleukin-17 and Interleukin-27 Expression Levels in Children with Bronchial Asthma and Their Correlation with Indicators of Lung Function |
Q82545329 | Exploring priorities for public health genomics |
Q91480950 | Expression Analysis of PVT1, CCDC26, and CCAT1 Long Noncoding RNAs in Acute Myeloid Leukemia Patients |
Q53476912 | Expression Levels of miR-30a-5p in Papillary Thyroid Carcinoma: A Comparison Between Serum and Fine Needle Aspiration Biopsy Samples. |
Q87413535 | Expression level of miR-93 in formalin-fixed paraffin-embedded tissues of breast cancer patients |
Q50706022 | Expression of Circulating miR-17-92 Cluster and HDAC9 Gene in Atherosclerotic Patients with Unstable and Stable Carotid Plaques. |
Q53174831 | Expression of Egfl7 and miRNA-126-5p in Symptomatic Carotid Artery Disease. |
Q93389624 | Expression of Survivin and Its Splice Variants in Pediatric Acute Lymphoblastic Leukemia |
Q89708482 | Expression of the Chemokine Receptor CXCR3 Correlates with Dendritic Cell Recruitment and Prognosis in Gastric Cancer |
Q92509153 | FBXW7 Mutations Promote Cell Proliferation, Migration, and Invasion in Cervical Cancer |
Q43449148 | FDA and CLIA oversight of advanced diagnostics and biomarker tests |
Q86176568 | FDA's framework for regulatory oversight of LDTs |
Q38203625 | FGB gene - 148C>T polymorphism is associated with increased risk of ischemic stroke in a Chinese population: a meta-analysis based on 18 case-control studies |
Q48000996 | FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing |
Q51847782 | FMR1 protein expression in blood smears for fragile X syndrome diagnosis in a Mexican population sample. |
Q73356700 | FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation |
Q59690751 | Facioscapulohumeral Muscular Dystrophy Type 1A in Northwestern Tuscany: A Molecular Genetics-based Epidemiological and Genotype–Phenotype Study |
Q84232940 | Factor V Leiden and the risk of venous thrombosis, myocardial infarction, and stroke: a case-control study in Venezuela |
Q77962880 | Factor V Leiden mutation screened by PCR and detected with lanthanide-labeled probes |
Q80062520 | Factors associated with an individual's decision to withdraw from genetic testing for breast and ovarian cancer susceptibility: implications for counseling |
Q34774054 | Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations |
Q44232913 | False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy |
Q81347857 | False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by Southern blot analysis: the role of neutral polymorphisms |
Q40576728 | Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus |
Q51837885 | Familial Subtelomeric Rearrangement of Chromosomes 19 and 20: A New Contribution to Partial Distal 19q Trisomy |
Q74498032 | Familial dysautonomia and the expansion of the Ashkenazi Jewish carrier screening panel |
Q81432210 | Fanconi anemia: contribution of molecular analyses to the identification of bone marrow graft donors and the study of chimerism in grafted patients |
Q33721308 | Fanconi anemia: genetic testing in Ashkenazi Jews |
Q38398112 | Fas -670A/G (rs1800682) polymorphism and digestive cancer risk in Asians: a meta-analysis |
Q84931960 | Fas, Fas Ligand, and vitamin D Receptor FokI gene polymorphisms in patients with type 1 diabetes mellitus in the Aegean region of Turkey |
Q47761973 | Fibroblast growth factor receptor 4 polymorphisms are associated with coronary artery disease |
Q43604484 | Filaggrin mutations in a Western siberian population and their association with atopic dermatitis in children |
Q73338750 | Fine mapping of progressive pseudorheumatoid dysplasia: a tool for heterozygote identification |
Q52004196 | Fine mapping of the human 5-HTR2a gene to chromosome 13q14 and identification of two highly polymorphic linked markers suitable for association studies in psychiatric disorders. |
Q73834609 | First BRCA1 and BRCA2 gene testing implemented in the health care system of Stockholm |
Q43502110 | First report on HLA-DPB1 gene allelic distribution in the general Lebanese population |
Q88755123 | Five Common Functional Polymorphisms in microRNAs and Susceptibility to Breast Cancer: An Updated Meta-Analysis |
Q91761398 | Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis |
Q33705889 | Five common haplotype-tagging variants of adiponectin (ADIPOQ) and cancer susceptibility: a meta-analysis |
Q56770004 | Five principles: returning genetic testing results to research participants |
Q48711760 | Five-locus HLA typing of hematopoietic stem cell donor volunteers using PCR sequence specific primers |
Q92592854 | Flexi-Myo Panel Strategy: Genomic Diagnoses of Myopathies and Muscular Dystrophies by Next-Generation Sequencing |
Q36367670 | Flotillin-2 Gene Is Associated with Coronary Artery Disease in Chinese Han Population |
Q80603336 | Focus group approach for developing written patient information in oncogenetics |
Q53095862 | Folate gene polymorphisms MTR A2756G, MTRR A66G, and BHMT G742A and risk for coronary artery disease: a meta-analysis. |
Q39041032 | Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women. |
Q78684528 | Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands |
Q38884044 | Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews |
Q35752177 | Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing. |
Q90682648 | Free at Last? Discussing the Future of Forensic Genealogy |
Q30728592 | Free the Data |
Q30456850 | Free the data: the end of genetic data as trade secrets |
Q38992098 | Frequencies of CYP3A5*1/*3 variants in a Moroccan population and effect on tacrolimus daily dose requirements in renal transplant patients |
Q45559571 | Frequencies of Four ATP-Binding Cassette Transporter G8 Polymorphisms in Patients with Ischemic Vascular Diseases |
Q39358084 | Frequencies of promoter pentanucleotide (TTTTA)n of CYP11A gene in European and North African populations |
Q44928014 | Frequencies of three CYP2D6 nonfunctional alleles (CYP2D6*3, *4, and *6) within an Iranian population (Mazandaran). |
Q35693733 | Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene |
Q79186930 | Frequency of CARD15 polymorphisms in patients with Crohn's disease from Toledo, Spain: genotype-phenotype correlation |
Q39131868 | Frequency of CCR5 Gene 32-bp deletion in Pakistani ethnic groups |
Q81432207 | Frequency of HFE H63D, S65C, and C282Y mutations in patients with iron overload and controls from Toledo, Spain |
Q39505648 | Frequency of IL28B rs12979860 single-nucleotide polymorphism alleles in newborn infants and in patients with chronic hepatitis C in Morocco |
Q46308235 | Frequency of certain single-nucleotide polymorphisms and duplication of CYP2D6 in the Jordanian population |
Q84485540 | Frequency of five important CYP2D6 alleles within an Iranian population (Eastern Azerbaijan) |
Q78823865 | Frequency of hemochromatosis C282Y and H63D mutations in Sardinia |
Q42938225 | Frequency of prothrombotic risk factors in patients with deep venous thrombosis and controls: their implications for thrombophilia screening in Chilean subjects |
Q39694144 | Frequency of triple mutations involving factor V, prothrombin, and methylenetetrahydrofolate reductase genes among patients referred for molecular thrombophilia workup in a tertiary care center in Lebanon. |
Q55054375 | Frequency of uridine monophosphate synthase Gly(213)Ala polymorphism in Caucasian gastrointestinal cancer patients and healthy subjects, investigated by means of new, rapid genotyping assays. |
Q36312046 | From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation |
Q85279818 | From base Pairs to bedside…and beyond |
Q83686980 | From bench to practice to population health impact: barriers to realizing the public health and clinical promise of basic scientific discovery |
Q54280606 | Full-gene-sequencing analysis of N-acetyltransferase-2 in an adult Indian population. |
Q39860321 | Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene |
Q36225253 | Functional gene polymorphism of matrix metalloproteinase-1 is associated with benign hyperplasia of myo- and endometrium in the Russian population |
Q38494660 | Functional network analysis with the subcellular location and gene ontology information in human allergic asthma |
Q35008057 | Functional polymorphisms in surfactant protein genes and chronic obstructive pulmonary disease risk: a meta-analysis |
Q24316460 | Future of Microbiomes Through the National Microbiome Initiative |
Q39052173 | G2019S mutation of the leucine-rich repeat kinase 2 gene in a cohort of Egyptian patients with Parkinson's disease |
Q45931449 | G6PD Mediterranean S188F codon mutation is common among Saudi sickle cell patients and increases the risk of stroke. |
Q45025093 | GATA4 mutations in 357 unrelated patients with congenital heart malformation |
Q84242138 | GATA4 specific nonsynonymous single-nucleotide polymorphisms in congenital heart disease patients of Mysore, India |
Q87736355 | GINA and ADA: New Rule Seriously Dents Previous Protections |
Q43826783 | GJB2 allele variants and the associated audiologic features identified in Chinese patients with less severe idiopathic hearing loss |
Q50478281 | GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment. |
Q50442173 | GJB2 mutations in patients with nonsyndromic hearing loss from Croatia. |
Q47897219 | GLIS3 and TYK2 Single Nucleotide Polymorphisms Are Not Associated with Dermatomyositis/Polymyositis in Chinese Han Population |
Q53265337 | GNAS1 (Gαs) gene T393C polymorphism and renal cell carcinoma risk in a North Indian population: a case-control study. |
Q54473307 | GPR143 mutational analysis in two Italian families with X-linked ocular albinism. |
Q47352204 | GSTM1 and GSTT1 Gene Polymorphisms, Gene-Gene Interaction, and Esophageal Carcinoma Risk: Evidence from an Updated Meta-Analysis |
Q97549466 | GTMB Policy on Database-Derived Articles |
Q33721290 | Gaucher disease: gene frequencies and genotype/phenotype correlations |
Q45297107 | Gender differences in attitudes among those at risk for Huntington's disease |
Q36476832 | Gender, body mass index, and PPARγ polymorphism are good indicators in hyperuricemia prediction for Han Chinese |
Q46526127 | Gender-Specific Association Between FGFR4 Gly388Arg Gene Variants and Hypertension |
Q51355837 | Gender-specific association of methylenetetrahydrofolate reductase gene polymorphisms with sporadic amyotrophic lateral sclerosis. |
Q95310927 | Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates |
Q58061415 | Gene Dosage Analysis in Silver-Russell Syndrome: Use of Quantitative Competitive PCR and Dual-Color FISH to Estimate the Frequency of Duplications in 7p11.2–p13 |
Q104610667 | Gene Environment Interactions Between the COL9A1 Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus |
Q92746379 | Gene Expression of the Circulating Long Noncoding RNA H19 and HOTAIR in Egyptian Colorectal Cancer Patients |
Q53812582 | Gene Polymorphisms in the RANKL/RANK/OPG Pathway Are Associated with Type 2 Diabetes Mellitus in Southern Han Chinese Women. |
Q54391634 | Gene expression and promoter region polymorphisms of interleukin-10 in meningitis patients. |
Q64988478 | Gene polymorphisms and febrile neutropenia in acute leukemia--no association with IL-4, CCR-5, IL-1RA, but the MBL-2, ACE, and TLR-4 are associated with the disease in Turkish patients: a preliminary study. |
Q56658695 | Gene polymorphisms and sport attitude in Italian athletes |
Q33153437 | Gene sequencing in neonates and infants with the long QT syndrome. |
Q84211445 | Gene-gene interactions among genetic variants from obesity candidate genes for nonobese and obese populations in type 2 diabetes |
Q64869626 | Genetic Analysis of LRRK1 and LRRK2 Variants in Essential Tremor Patients |
Q40540189 | Genetic Analysis of the ZNF512B, SLC41A1, and ALDH2 Polymorphisms in Parkinson's Disease in the Iranian Population. |
Q87487202 | Genetic Association Between IL-21 Polymorphisms and Cryptorchidism in a Chinese Han Population |
Q88752561 | Genetic Association Study Between the COL11A1 and COL18A1 Genes and High Myopia in a Han Chinese Population |
Q40588693 | Genetic Association of PARP15 Polymorphisms with Clinical Outcome of Acute Myeloid Leukemia in a Korean Population |
Q50067433 | Genetic Association of the Norepinephrine Transporter Gene G1287A Polymorphism with Risk of Schizophrenia: A Case-Control Study and Meta-Analysis |
Q48207156 | Genetic Associations and Interactions Between the NR3C1 (GR) and NR3C2 (MR) Genes and Aggressive Behavior in a Central South Chinese Han Population |
Q91322592 | Genetic Distribution of the LTA +252 A>G and TNFA -308 G > A Polymorphisms in the Moroccan Population |
Q88918686 | Genetic Information Nondiscrimination Act and the Affordable Care Act: When Two Is Better Than One |
Q54171393 | Genetic Modifiers in β-Thalassemia Intermedia: A Study on 102 Iraqi Arab Patients. |
Q89166849 | Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort |
Q38747625 | Genetic Polymorphism of Drug-Metabolizing Enzymes CYP2C9 and CYP2C19 in Moroccan Population |
Q41268009 | Genetic Polymorphism of the Serotonin Transporter Gene, SLC6A4 rs16965628, Is Associated with Obsessive Compulsive Disorder |
Q47308128 | Genetic Polymorphisms in PRM1, PRM2, and YBX2 Genes are Associated with Male Factor Infertility |
Q47663718 | Genetic Polymorphisms of Cytochrome P450 Enzymes and Transport Proteins in a Russian Population and Three Ethnic Groups of Dagestan. |
Q92896583 | Genetic Polymorphisms of miR-149 Associated with Susceptibility to Both Pulmonary and Extrapulmonary Tuberculosis |
Q91371525 | Genetic Polymorphisms on 4q21.1 Contributed to the Risk of Hashimoto's Thyroiditis |
Q90753996 | Genetic Predisposition to Unexplained Recurrent Pregnancy Loss: Killer Cell Immunoglobulin-Like Receptor Gene Polymorphisms as Potential Biomarkers |
Q92116689 | Genetic Susceptibility to Systemic Sclerosis in the Greek-Cypriot Population: A Pilot Study |
Q91192788 | Genetic Testing Across Young Hispanic and Non-Hispanic White Breast Cancer Survivors: Facilitators, Barriers, and Awareness of the Genetic Information Nondiscrimination Act |
Q87325703 | Genetic Testing and the Workplace |
Q45300383 | Genetic Testing for Huntington's Disease: How Is the Decision Taken? |
Q57694666 | Genetic Testing for Women Previously Diagnosed with Breast/Ovarian Cancer: Examining the Impact of BRCA1 and BRCA2 Mutation Searching |
Q91577263 | Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing |
Q58532094 | Genetic Tests Need the Human Variome Project |
Q88472787 | Genetic Variant Q63R of Cannabinoid Receptor 2 Causes Differential ERK Phosphorylation in Human Immune Cells |
Q90120774 | Genetic Variants at the rs4720169 Locus of TBX20 and the rs12921862 Locus of AXIN1 May Increase the Risk of Congenital Heart Defects in the Mexican Population: A Pilot Study |
Q36367726 | Genetic Variants in Six-Transmembrane Epithelial Antigen of Prostate 4 Increase Risk of Developing Metabolic Syndrome in a Han Chinese Population |
Q100380487 | Genetic Variants of the MTMR9 Gene Are Associated with NonSpecific Intellectual Disability: A Family-Based Association Study |
Q73356720 | Genetic analyses of male breast cancer in Israel |
Q46534577 | Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening |
Q77962902 | Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity |
Q54255902 | Genetic and Clinical Analyses of Southern Chinese Children with Peutz-Jeghers Syndrome. |
Q102384881 | Genetic and Disability Discrimination During COVID-19 |
Q47256680 | Genetic and Environmental Biomarkers Associated with Triglyceride Levels in Two Groups of Slovak Women. |
Q91571917 | Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
Q37190345 | Genetic associations with hypertension: meta-analyses of six candidate genetic variants |
Q38293255 | Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel |
Q78178579 | Genetic counseling for BRCA1/BRCA2 testing |
Q47589864 | Genetic counseling issues in Latinos |
Q57155738 | Genetic counseling: a medical approach |
Q40081240 | Genetic diagnosis in infertile men with numerical and constitutional sperm abnormalities |
Q38888190 | Genetic differentiation and origin of the Jordanian population: an analysis of Alu insertion polymorphisms |
Q53514581 | Genetic discrimination and screening for hemochromatosis: then and now. |
Q41687398 | Genetic discrimination: who is really at risk? |
Q78178544 | Genetic diseases and testing in Ashkenazi Jews: Part 1 |
Q47216832 | Genetic epidemiology of cancer predisposition DNA repair genes is probably related with ancestral surviving under adverse environmental conditions |
Q34517626 | Genetic hemochromatosis, a Celtic disease: is it now time for population screening? |
Q34011496 | Genetic hemochromatosis: detection, management, and population screening |
Q78178445 | Genetic information must remain private to prevent discrimination, spur research |
Q82206072 | Genetic information nondiscrimination act insurance protections issued |
Q50483258 | Genetic laboratory practices related to testing of the GJB2 (Connexin-26) gene in the United States in 1999 and 2000. |
Q78178508 | Genetic polymorphism of CYP2E1, ADH2, and ALDH2 in Mexican-Americans |
Q81432215 | Genetic polymorphism of MJD1 alleles and molecular analysis of SCA3 patients from Rio de Janeiro, Brazil |
Q51405389 | Genetic polymorphism of estrogen metabolizing enzymes in Siberian women with breast cancer. |
Q39102768 | Genetic polymorphism of matrix metalloproteinase-1 and coronary artery disease susceptibility: a case-control study in a Han Chinese population |
Q51731976 | Genetic polymorphisms in the UGT1A1 gene and breast cancer risk in Greek women. |
Q36092754 | Genetic polymorphisms of CYP2C8 in the Czech Republic |
Q45897327 | Genetic polymorphisms of glutathione S-transferase P1 and bladder cancer susceptibility in a Chinese population |
Q83364068 | Genetic polymorphisms of p53 codon 72 and bladder cancer susceptibility: a hospital-based case-control study |
Q34113879 | Genetic polymorphisms of platelet receptors in patients with acute myocardial infarction and resistance to antiplatelet therapy |
Q30233706 | Genetic protocols review by Institutional Review Boards at National Cancer Institute-designated cancer centers |
Q78178428 | Genetic risk assessment and insurance |
Q46938021 | Genetic screening for two LRRK2 mutations in French patients with idiopathic Parkinson's disease |
Q47805708 | Genetic screening of targeted subpopulations: the role of communal discourse in evaluating sociocultural implications |
Q38938687 | Genetic screening of the G2019S mutation of the LRRK2 gene in Southwest European, North African, and Sephardic Jewish subjects |
Q81456163 | Genetic testing |
Q58674009 | Genetic testing and Alzheimer disease: recommendations of the Stanford Program in Genomics, Ethics, and Society |
Q82841148 | Genetic testing and biomarkers in the new decade |
Q78178437 | Genetic testing and health insurance practices: an industry perspective |
Q38236678 | Genetic testing and native peoples: the call for community-based participatory research |
Q73038261 | Genetic testing directory |
Q78178574 | Genetic testing for breast cancer susceptibility: frequency of BRCA1 and BRCA2 mutations |
Q52206256 | Genetic testing for breast-ovarian cancer susceptibility: a regional trial. |
Q53533563 | Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. |
Q79327688 | Genetic testing for hemochromatosis: attitudes and acceptability among young and older adults |
Q84181535 | Genetic testing for inflammatory bowel disease: focus group analysis of patients and family members |
Q80603331 | Genetic testing for late-onset diseases: effect of disease controllability, test predictivity, and gender on the decision to take the test |
Q78178592 | Genetic testing for male infertility: a postulated role for mutations in sperm nuclear matrix attachment regions |
Q33997309 | Genetic testing for the susceptibility to alcohol dependence: interest and concerns in an African American population |
Q39983414 | Genetic testing of stored biological samples: views of 570 U.S. workers |
Q34239169 | Genetic testing registry launched |
Q33721265 | Genetic testing, Alzheimer disease, and long-term care insurance |
Q37277633 | Genetic variability of inflammatory genes in the Brazilian population |
Q86451344 | Genetic variant of single-nucleotide polymorphism is associated with risk of esophageal squamous cell carcinoma |
Q45946955 | Genetic variants in fibrinolytic system-related genes in infertile women with and without endometriosis. |
Q87884630 | Genetic variants in the PNPLA3 gene are associated with nonalcoholic steatohepatitis |
Q53514312 | Genetic variants in the tumor necrosis factor-related apoptosis-inducing ligand and death receptor genes contribute to susceptibility to bladder cancer. |
Q54659256 | Genetic variants of matrix metalloproteinase (MMP2) gene influence metabolic syndrome susceptibility. |
Q49034905 | Genetic variants of potassium voltage-gated channel genes (KCNQ1, KCNH2, and KCNE1) affected the risk of atrial fibrillation in elderly patients |
Q36638582 | Genetic variation in the OX40L/OX40 system and plasma lipid and lipoprotein levels in a Chinese hypertriglyceridemic population |
Q48030206 | Genetic variation of TLR2 and TLR4 among the Saudi Arabian population: insight into the evolutionary dynamics of the Arabian Peninsula |
Q87292186 | Genetic variations in the xenobiotic-metabolizing enzymes CYP1A1, CYP1A2, CYP2C9, CYP2C19 and susceptibility to colorectal cancer among Turkish people |
Q50590612 | Genetic variations of VEGF gene were associated with tetralogy of fallot risk in a Chinese Han population. |
Q92388359 | Genetics Is Forging New Frontiers in Mental Health Care: A Patient-Centered Collaborative Approach Will Smooth the Journey |
Q35682527 | Genetics providers and the family covenant: connecting individuals with their families |
Q24615511 | Genetics, environment, and diabetes-related end-stage renal disease in the Canary Islands |
Q91611199 | Genome-Wide mRNA-Seq Profiling Reveals that LEF1 and SMAD3 Regulate Epithelial-Mesenchymal Transition Through the Hippo Signaling Pathway During Palatal Fusion |
Q43171548 | Genomic and linguistic affinities: a study of allelic and haplotype diversity at DRD2 locus among the tribes of Gujarat, western India |
Q30573833 | Genomics education for the public: perspectives of genomic researchers and ELSI advisors |
Q81352526 | Genotype-based screening for hereditary hemochromatosis: II. Attitudes toward genetic testing and psychosocial impact--a report from a German pilot study |
Q40361971 | Genotype-phenotype correlation in patients with familial Mediterranean fever in East Anatolia (Turkey). |
Q30868904 | Genotyping data and novel haplotype diversity of STR markers in the SLC26A4 gene region in five ethnic groups of the Iranian population. |
Q50451300 | Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss. |
Q54323027 | Genotyping the CRHR1 rs242939 (A>G) polymorphism by a one-step tetra primer-amplification refractory mutation system-polymerase chain reaction. |
Q34385384 | Genotyping the GGGCGG tandem repeat promoter polymorphism in the 5-lipoxygenase enzyme gene (ALOX5) by pyrosequencing assay. |
Q28144308 | Geography of HFE C282Y and H63D mutations |
Q51184880 | Germinal mosaicism in a sample of families with Duchenne/Becker muscular dystrophy with partial deletions in the DMD gene. |
Q40415679 | Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer |
Q83524552 | Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population |
Q46109006 | Glutathione S-transferase M1 and T1 gene polymorphisms and risk of hypertension in tea garden workers of North-East India |
Q43254059 | Glutathione S-transferase M1 and T1 genes and susceptibility to chronic myeloid leukemia: a meta-analysis |
Q45169002 | Glyoxalase I and aldose reductase gene polymorphisms and susceptibility to carotid atherosclerosis in type 2 diabetes |
Q54394294 | HER-2/neu gene codon 655 (Ile/Val) polymorphism in breast carcinoma patients. |
Q78178747 | HER-2/neu oncogene amplification in cervical cancer studied by fluorescent in situ hybridization |
Q39116537 | HER2 polymorphisms and breast cancer in Tunisian women |
Q81468041 | HFE C282Y homozygotes aged 25-29 years at HEIRS Study initial screening |
Q73717908 | HFE alleles in an Irish cystic fibrosis population |
Q64977762 | HFE genotype frequencies in consecutive reference laboratory specimens: comparisons among referral sources and association with initial diagnosis. |
Q38142323 | HIF-1α C1772T polymorphism and gastrointestinal tract cancer risk: a meta-analysis and meta-regression analysis |
Q51337949 | HLA B27 subtype distribution among patients with ankylosing spondylitis in eastern Turkey. |
Q91846056 | HLA-DQ Typing Kits in Diagnosis and Screening for Celiac Disease |
Q34780228 | Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population |
Q33888421 | Haplotype analysis of the XRCC1 gene and laryngeal cancer |
Q46077319 | Haplotype diversity and linkage disequilibrium at DRD2 locus--a study on four population groups of Andhra Pradesh, India |
Q84211456 | Haplotype of the C61G BRCA1 mutation in Polish and Jewish individuals |
Q83532372 | Haplotype structures of common variants of CYP2C8, CYP2C9, and ADRB1 genes in a South Indian population |
Q36041704 | Haptoglobin 2-2 genotype is associated with increased risk of type 2 diabetes mellitus in northern Chinese |
Q84299442 | Haptoglobin genotypes in sickle-cell disease |
Q53709775 | Harnessing the Power of Next-Generation Sequencing. |
Q34405743 | Health-care referrals from direct-to-consumer genetic testing |
Q52034631 | Health-related quality-of-life assessment of prenatal diagnosis: chorionic villi sampling and amniocentesis. |
Q53249656 | Helicobacter pylori infection and MDM2 SNP309 association with gastric cancer susceptibility. |
Q51435891 | Hemoglobin Showa-Yakushiji: a common β thalassemia mutation among the Agri community from western India. |
Q40348591 | Hemoglobin Variants in Northern Thailand: Prevalence, Heterogeneity and Molecular Characteristics |
Q43874797 | Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload. |
Q57942611 | Hereditary Hemochromatosis in Spain |
Q35877549 | Hereditary hemochromatosis genetic testing of at-risk children: what is the appropriate age? |
Q82075274 | Hereditary hemochromatosis: awareness and genetic testing acceptability in Western Romania |
Q74613711 | Hereditary hemochromatosis: the clinical significance of the S65C mutation |
Q33555443 | Hereditary nonpolyposis colorectal cancer family members' perceptions about the duty to inform and health professionals' role in disseminating genetic information |
Q48001023 | Heteroduplex-based genotyping with microchip electrophoresis and dHPLC. |
Q45042090 | Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy |
Q96692437 | High Expression Levels of the SOCS3 Gene Are Associated with Acute Myocardial Infarction |
Q91192722 | High Expression of ABRACL Is Associated with Tumorigenesis and Affects Clinical Outcome in Gastric Cancer |
Q88556132 | High Expression of PLOD1 Drives Tumorigenesis and Affects Clinical Outcome in Gastrointestinal Carcinoma |
Q79327683 | High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing |
Q34578322 | High expression of epidermal growth factor receptor might predict poor survival in patients with colon cancer: a meta-analysis |
Q40248712 | High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss |
Q44602678 | High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness. |
Q78178517 | High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin |
Q34117173 | High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects |
Q82867091 | High incidence of deafness from three frequent connexin 26 mutations in an isolated community |
Q50482905 | High incidence of profound deafness in an isolated community. |
Q44671256 | High incidence of two methylenetetrahydrofolate reductase mutations (C677T and A1298C) in Hispanics |
Q46676618 | High prevalence of MTHFR gene A1298C polymorphism in Lebanon |
Q33721275 | High school genetics education and Alzheimer disease |
Q54154410 | High-Level Expression of microRNA-21 in Peripheral Blood Mononuclear Cells Is a Diagnostic and Prognostic Marker in Prostate Cancer. |
Q38397317 | High-quality and -quantity DNA extraction from frozen archival blood clots for genotyping of single-nucleotide polymorphisms |
Q54343507 | High-resolution melting analyses for gene scanning of APC, MLH1, MSH2, and MSH6 associated with hereditary colorectal cancer. |
Q83925818 | High-resolution melting analysis is a more effective approach for screening TSC genes mutations |
Q35180495 | High-resolution melting analysis of MED12 mutations in uterine leiomyomas in Chinese patients |
Q36553971 | High-resolution melting analysis of the TPMT gene: a study in the Polish population. |
Q34112106 | High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique |
Q73561044 | High-risk genotype for type 1 diabetes: a new simple microtiter plate-based ELOSA assay |
Q80521237 | High-risk premenopausal women's experiences of undergoing prophylactic oophorectomy: a descriptive study |
Q38421924 | High-throughput genotyping on archived dried blood spot samples |
Q54489631 | High-throughput identification of mutations using a combination of CEL I fragmentation and SAGE technology. |
Q91001337 | Higher DNA Yield for Epidemiological Studies: A Better Method for DNA Extraction from Blood Clot |
Q100308290 | HnRNPA2/B1 Is a Novel Prognostic Biomarker for Breast Cancer Patients |
Q35966997 | Homeobox C9 is not potentially related to congenital heart disease in Chinese patients |
Q54667700 | Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation. |
Q35119699 | Human equilibrative nucleoside transporter 1 predicts survival in patients with pancreatic cancer treated with gemcitabine: a meta-analysis |
Q53161302 | Human leukocyte antigen-DQA1 gene allelic distribution: experience of a major tertiary care center in Lebanon. |
Q39800921 | Human leukocyte antigen-DRB1 class II genes in Mexican Amerindian Mazahuas: genes and languages do not correlate |
Q35877553 | Human subject protections in genetic research |
Q47414789 | Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history? |
Q54387278 | Hypoxia-inducible factor-1 alpha C1772T gene polymorphism and glioma risk: a hospital-based case-control study from China. |
Q45043556 | I219V polymorphism in hMLH1 gene in patients affected with ulcerative colitis. |
Q35006957 | IMPDH2 genetic polymorphism: a promoter single-nucleotide polymorphism disrupts a cyclic adenosine monophosphate responsive element |
Q36092734 | ISL1 common variant rs1017 is not associated with susceptibility to congenital heart disease in a Chinese population |
Q39927253 | IVS4-14 A/G and IVS4-73 C/T polymorphisms in OLR1 gene in patients with ischemic cerebrovascular diseases |
Q50683920 | IVSII-666 of human beta-globin gene: a polymorphic marker linked to codon 8(-AA) mutation. |
Q101118443 | Identification of Causative Variants Contributing to Nonsyndromic Orofacial Clefts Using Whole-Exome Sequencing in a Saudi Family |
Q91266074 | Identification of Chromosomal Regions Linked to Diabetic Nephropathy: A Meta-Analysis of Genome-Wide Linkage Scans |
Q50044691 | Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing |
Q90843370 | Identification of Hepatocellular Carcinoma-Related Potential Genes and Pathways Through Bioinformatic-Based Analyses |
Q92335529 | Identification of Key Genes Potentially Related to Intervertebral Disk Degeneration by Microarray Analysis |
Q95328801 | Identification of Multiple High-Risk Human Papillomavirus Infections in a Rural Population of Canatlan, Durango, Mexico |
Q91791428 | Identification of Novel CXCL12 Genetic Polymorphisms Associated with Type 2 Diabetes Mellitus: A Chinese Sib-Pair Study |
Q100568407 | Identification of Novel EYS Mutations by Targeted Sequencing Analysis |
Q93060353 | Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India |
Q87420626 | Identification of Novel Variants in the PVRL1 Gene in Patients With Nonsyndromic Cleft Lip With or Without Cleft Palate |
Q42665293 | Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction |
Q98193253 | Identification of Potential Hub Genes and Signal Pathways Promoting the Distinct Biological Features of Cord Blood-Derived Endothelial Progenitor Cells Via Bioinformatics |
Q50434734 | Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis. |
Q90494803 | Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome |
Q36549285 | Identification of a CYP19 Gene Single-Nucleotide Polymorphism Associated with a Reduced Risk of Coronary Heart Disease |
Q47633838 | Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing |
Q91821070 | Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes |
Q59273940 | Identification of a Novel Mutation in FOXL2 Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family |
Q62393932 | Identification of a Novel Mutation in the ARSB Gene That Is Frequent Among Brazilian MPSVI Patients |
Q50067390 | Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing |
Q44487290 | Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia |
Q50475101 | Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. |
Q52595423 | Identification of a novel pathogenic mutation in BRCA2 in a Spanish breast-ovarian cancer family. |
Q93097984 | Identification of an Exosomal Long Noncoding RNA SOX2-OT in Plasma as a Promising Biomarker for Lung Squamous Cell Carcinoma |
Q30586706 | Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss. |
Q43259054 | Identification of deletion carriers in X-linked chronic granulomatous disease by real-time PCR. |
Q54473733 | Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR. |
Q51702829 | Identification of duchenne muscular dystrophy female carriers by fluorescence in situ hybridization and RT-PCR. |
Q34046162 | Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening |
Q39937621 | Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses |
Q81432202 | Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques |
Q33888370 | Identification of miR-423 and miR-499 polymorphisms on affecting the risk of hepatocellular carcinoma in a large-scale population |
Q35967003 | Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population |
Q51038069 | Identification of new genes downregulated in prostate cancer and investigation of their effects on prognosis. |
Q39300033 | Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy |
Q81352516 | Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients |
Q83189109 | Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy |
Q47909607 | Identification of patients at high risk of psychological distress after BRCA1 genetic testing |
Q83359578 | Identification of promoter region methylation patterns of MGMT, CDKN2A, GSTP1, and THBS1 genes in intracranial meningioma patients |
Q50435504 | Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells. |
Q73742304 | Identification of the Hind III polymorphic site in the PAI-1 gene: analysis of the PAI-1 Hind III polymorphism by PCR |
Q28660390 | Identification of the variations in the CPT1B and CHKB genes along with the HLA-DQB1*06:02 allele in Turkish narcolepsy patients and healthy persons |
Q36789447 | Identification of two novel mutations of the HOMEZ gene in Chinese patients with isolated ventricular septal defect |
Q112298551 | Identifying FBLN1 (Gene ID: 2192) as a Potential Melanoma Biomarker for Melanoma based on an Analysis of microRNA Expression Profiles in the GEO and TCGA Databases |
Q46714881 | Impact of 677C>T mutation of the 5,10-methylenetetrahydrofolate reductase on IVF outcome: is screening necessary for all infertile women? |
Q40587381 | Impact of ABCB1 single-nucleotide polymorphisms on treatment outcomes with salmeterol/fluticasone combination therapy for stable chronic obstructive pulmonary disease |
Q73356695 | Impact of BRCA1 testing on women with cancer: a pilot study |
Q47728301 | Impact of CYP2D6 Polymorphisms on Postoperative Fentanyl Analgesia in Gastric Cancer Patients |
Q44946303 | Impact of EXO1 polymorphism in susceptibility to colorectal cancer |
Q58461845 | Impact of Genetic Testing for Breast–Ovarian Cancer Susceptibility |
Q50434664 | Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant. |
Q51922913 | Impact of genetic counseling and DNA testing on individuals with colorectal cancer with a positive family history: a population-based study. |
Q60689205 | Impact of genetic counseling and testing on colorectal cancer screening behavior |
Q78823857 | Impact of genetic counseling and testing on colorectal cancer screening behavior |
Q73742287 | Impact of genetic privacy legislation on insurer behavior |
Q53094065 | Implementation of a High-Resolution Single-Nucleotide Polymorphism Array in Analyzing the Products of Conception. |
Q80757022 | Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center |
Q54391628 | Implementation of a cost-effective unlabeled probe high-resolution melt assay for genotyping of Factor V Leiden. |
Q38072459 | Implementation of the Cepheid Xpert EV assay for rapid detection of enteroviral meningitis: experience of a tertiary care center and a technical review |
Q44863550 | Implications of molecular diagnostic testing in families with hereditary pancreatitis |
Q81432187 | Implications of the age range in a population-based BRCA1 testing program with eligibility based on family history of breast and ovarian cancer |
Q48483224 | Importance of NOS3 genetic polymorphisms in the risk of development of ischemic stroke in the Turkish population |
Q43597110 | Improved efficiency of mutation detection by denaturing high-performance liquid chromatography using modified primers and hybridization procedure |
Q54682789 | Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. |
Q104610662 | Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A>G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip |
Q94562997 | In Silico Identification of Crucial Genes and Specific Pathways in Hepatocellular Cancer |
Q114633898 | In Silico-Analysis of the Multi-Omics Data Identified the Ataxia Telangiectasia Mutated Gene as a Potential Biomarker of Breast Invasive Carcinoma |
Q52102363 | Incidence of chromosomal mosaicism in human embryos at different developmental stages analyzed by fluorescence in situ hybridization. |
Q48000940 | Incidence of fragile X in 5,000 consecutive newborn males. |
Q98154851 | Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders |
Q91420226 | Increased Levels of miR-155 are Related to Higher T-Cell Activation in the Peripheral Blood of Patients with Chronic Hepatitis B |
Q54312726 | Increased T-allele frequency of 677 C>T polymorphism in the methylenetetrahydrofolate reductase gene in differentiated thyroid carcinoma. |
Q45097925 | Increased gastric cancer risk with PTEN IVS4 polymorphism in a Turkish population |
Q43284137 | Increased risk for atherosclerosis of various macrophage scavenger receptor 1 alleles |
Q84599387 | Increased risk for gastric cancer in carriers of the lymphotoxin-α+252G variant infected by Helicobacter pylori |
Q51571940 | Increasing role of cytogenetics in pediatric practice. |
Q92509168 | Independent Severe Cases of Heterozygous Familial Hypercholesterolemia Caused by the W483X and Novel W483G Mutations in the Low-Density Lipoprotein Receptor Gene That Were Clinically Diagnosed as Homozygous Cases |
Q51298302 | Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms. |
Q36376488 | Inference of the Genetic Polymorphisms of CYP2D6 in Six Subtribes of the Malaysian Orang Asli from Whole-Genome Sequencing Data |
Q38918148 | Inflammatory bowel disease: susceptibility and disease heterogeneity revealed by human leukocyte antigen genotyping |
Q40982163 | Influence of Polymorphism (-G308A) TNF-α on the Periportal Fibrosis Regression of Schistosomiasis After Specific Treatment |
Q47583174 | Influence of a TNF-α Polymorphism on the Severity of Schistosomiasis Periportal Fibrosis in the Northeast of Brazil |
Q48420732 | Influence of brain-derived neurotrophic factor genetic polymorphisms on the ages of onset for heroin dependence in a Chinese population |
Q39583850 | Influence of gelatinase B polymorphic variants and its serum levels in atherosclerosis |
Q38941165 | Influence of methylenetetrahydrofolate reductase C677T gene polymorphisms in Algerian infertile men with azoospermia or severe oligozoospermia |
Q46700021 | Influence of the functional polymorphisms in the organic anion transporting polypeptide 1B1 in the susceptibility to colorectal cancer. |
Q40484323 | Influences of IL-1b-3953 C>T and MMP-9-1562C >T Gene Variants on Myocardial Infarction Susceptibility in a Subset of the Iranian Population. |
Q53262702 | Influences of multiple genetic polymorphisms on ovarian cancer risk in Malaysia. |
Q56783201 | Information and consent in internet paternity testing: focus on minors' protection in Italy |
Q36810317 | Information needs of mothers regarding communicating BRCA1/2 cancer genetic test results to their children |
Q47992208 | Informing carriers of beta-thalassemia: giving the good news |
Q45764766 | Informing public health policy through deliberative public engagement: perceived impact on participants and citizen-government relations. |
Q46434809 | Inherited thrombophilia genes in minorities |
Q51509206 | Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in whites and blacks in the Hemochromatosis and Iron Overload Screening Study. |
Q54394310 | Insulin receptor H1085H C>T and insulin receptor substrate 1 G972R polymorphisms and prostate cancer risk: a pilot study. |
Q39621771 | Insulin-like growth factor system in Egyptian children with acute lymphoblastic leukemia |
Q98154858 | Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy |
Q64129246 | Interaction Between AGTR1 and PPARγ Gene Polymorphisms on the Risk of Nonalcoholic Fatty Liver Disease |
Q36925742 | Interaction Between CYP4F2 rs2108622 and CPY4A11 rs9333025 Variants Is Significantly Correlated with Susceptibility to Ischemic Stroke and 20-Hydroxyeicosatetraenoic Acid Level |
Q50093381 | Interaction Between Rare Variants in NOTCH1 and Betel Quid Chewing in Oral Squamous Cell Carcinoma |
Q45849963 | Interaction of genetic risk factors confers increased risk for metabolic syndrome: the role of peroxisome proliferator-activated receptor γ. |
Q54301399 | Interaction of the dopaminergic and serotonergic systems significantly influences the risk for multisomatoform disorder: a controlled pilot study. |
Q51770954 | Interactions Between PPARG and AGTR1 Gene Polymorphisms on the Risk of Hypertension in Chinese Han Population. |
Q89291342 | Interactions of Pri-miRNA-34b/c and TP53 Polymorphisms on the Risk of Osteoporosis |
Q39684629 | Interest in newborn genetic testing: a survey of prospective parents and the general public |
Q44367308 | Interleukin 4-590T/C polymorphism and susceptibility to leprosy |
Q51336410 | Interleukin 6 (IL-6) and IL-10 Promoter Region Polymorphisms Are Associated with Risk of Lumbar Disc Herniation in a Northern Chinese Han Population. |
Q54352609 | Interleukin-10 (-1082G/A) gene polymorphism in patients with type 2 diabetes with and without nephropathy. |
Q54455760 | Interleukin-16 gene polymorphisms rs4778889, rs4072111, rs11556218, and cancer risk in Asian populations: a meta-analysis. |
Q48578785 | Interleukin-16 polymorphism is associated with an increased risk of glioma |
Q45899614 | Interleukin-2 gene polymorphisms and prognosis of breast cancer. |
Q36408096 | Interleukin-6 receptor gene 48892 A/C polymorphism is associated with metabolic syndrome in female Taiwanese adolescents. |
Q53149865 | International Rare Disease Research Consortium commits to aggressive goals. |
Q48454568 | International Standard Cytogenomic Array Consortium. Interview by Alyson Krokosky, Sharon F Terry |
Q34870084 | Interpopulation variation frequency of human inosine 5'-monophosphate dehydrogenase type II (IMPDH2) genetic polymorphisms. |
Q78178561 | Introduction to PCR/OLA/SCS, a multiplex DNA test, and its application to cystic fibrosis |
Q41757251 | Introduction: Hemochromatosis population screening |
Q41116470 | Intron 4 of the RH Gene in Han Chinese, Tibetan, and Mongol Populations |
Q53203939 | Investigation of Arg399Gln and Arg194Trp polymorphisms of the XRCC1 (x-ray cross-complementing group 1) gene and its correlation to sister chromatid exchange frequency in patients with chronic lymphocytic leukemia. |
Q34205525 | Investigation of KIF6 Trp719Arg in a case-control study of coronary artery disease in Western Indians |
Q85901627 | Investigation of NKX2.5 gene mutations in congenital heart defects in an Indian population |
Q53273829 | Investigation of a possible relationship between EPHX1 gene polymorphisms and colorectal cancer in Turkish society. |
Q54397286 | Investigation of association between Angiotensin-converting enzyme gene insertion/deletion polymorphism frequency in Turkish patients with schizophrenia. |
Q46459101 | Investigation of association between plasminogen activator inhibitor type-1 (PAI-1) gene 4G/5G polymorphism frequency and plasma PAI-1 enzyme activity in patients with acute stroke |
Q44587059 | Investigation of epistasis between DAOA and 5HTR1A variants on clinical outcomes in patients with schizophrenia |
Q54237344 | Investigation of poly (ADP-ribose) polymerase-1 genetic variants as a possible risk for allergic rhinitis. |
Q54189178 | Invivoscribe BIOMED-2 primer mixes in B-cell immunoglobulin gene rearrangement studies: experience of a molecular diagnostics laboratory in a major tertiary care center. |
Q77480356 | Involvement of CFTR gene alterations in obstructive and nonobstructive infertility in men |
Q35752169 | Involvement of single-nucleotide polymorphisms in predisposition to head and neck cancer in Saudi Arabia |
Q54319270 | Is MMP-7 gene polymorphism a possible risk factor for chronic obstructive pulmonary disease in Turkish patients. |
Q40330097 | Is Serum Angiotensin-Converting Enzyme Level Useful For Determining Necroinflammatory Activity In Chronic Hepatitis B Infection? |
Q84010482 | Is the apolipoprotein E4 allele always hazardous? Serum uric acid level as a conflict |
Q78178513 | Is the hemochromatosis gene a modifier locus for cystic fibrosis? |
Q44591550 | Is there any association between the Ser326Cys polymorphism of the 8-oxoguanine glycosylase 1 (OGG1) gene and risk of colon polyp and abnormal glucose tolerance in acromegaly patients? |
Q85441635 | Is this a genesis in prenatal testing: genomic knowledge, risk or benefit? |
Q73717892 | Issues in newborn screening |
Q96963415 | It Is in Our DNA, But You Wouldn't Know |
Q54355011 | JAK-1 rs2780895 C-related genotype and allele but not JAK-1 rs10789166, rs4916008, rs2780885, rs17127114, and rs3806277 are associated with higher susceptibility to asthma. |
Q36308205 | JAK1 gene polymorphisms are associated with the outcomes of hepatitis B virus infection, but not with α interferon therapy response in a Han Chinese population |
Q54348039 | JAK2 V617F "indeterminate" results by MutaScreen can be easily resolved using MutaQuant kits. |
Q39797672 | JAK2 V617F gene mutation in the laboratory work-up of myeloproliferative disorders: experience of a major referral center in Lebanon |
Q54456736 | JAK2 V617F mutation detection: laboratory comparison of two kits using RFLP and qPCR. |
Q39656765 | JAK2 V617F mutation prevalence in myeloproliferative neoplasms in Pernambuco, Brazil |
Q37067021 | JMY polymorphism is related to severity of ankylosing spondylitis in Chinese Han patients |
Q82916526 | Killer cell immunoglobulin-like receptor (KIR) genotypes in patients with recurrent tonsillitis |
Q39983418 | Killer cell immunoglobulin-like receptor genotypes in Behçet's disease patients: any role for the 3DP1*001/002 pseudogene? |
Q88891857 | Knockdown of LncRNA-XIST Suppresses Proliferation and TGF-β1-Induced EMT in NSCLC Through the Notch-1 Pathway by Regulation of miR-137 |
Q44704415 | Knowledge about hereditary colorectal cancer among colorectal cancer survivors |
Q81693424 | Knowledge, attitudes, and utilization of BRCA1/2 testing among women with early-onset breast cancer |
Q50119651 | LARaLink 2.0: a comprehensive aid to basic and clinical cytogenetic research |
Q58376313 | LMNA, ZMPSTE24, and LBR Are Not Mutated in Scleroderma |
Q46990943 | LOC387761 polymorphism is associated with type 2 diabetes in the Mexican population |
Q44735167 | Laboratory referral rates of genetic tests for thrombophilia workup in a major referral center |
Q37980908 | Laboratory-developed test--SynFRAME: an approach for assessing laboratory-developed tests synthesized from prior appraisal frameworks |
Q51570657 | Lack of Association Between Polymorphism rs4986791 in TLR4 and Primary Open-Angle Glaucoma in a Saudi Cohort. |
Q86749521 | Lack of Association Between Polymorphisms in AGT and ATR1 and IgA Nephropathy in a Chinese Population |
Q48455892 | Lack of association between CX3CR1 V249I and T280M polymorphisms and risk of Parkinson's disease in a Greek population |
Q54342859 | Lack of association between MTHFR C677T and A1298C polymorphisms and risk of childhood acute lymphoblastic leukemia in the Kurdish population from Western Iran. |
Q51364862 | Lack of association between essential hypertension and GSTO1 uncommon genetic variants in Italian patients. |
Q43556498 | Lack of association between polymorphism -592A/C in the promoter region of the IL10 gene and Tourette's syndrome in a family-based association study in the Chinese Han population |
Q73356714 | Lack of association of ACE/angiotensinogen genotype with renal function in autosomal dominant polycystic kidney disease |
Q39480444 | Lack of association of CYP1A1 polymorphism with prostate cancer susceptibility of Tunisian men. |
Q83755325 | Lack of association of EPHX1 genotypes and haplotypes with oral cancer in South Indians |
Q46178685 | Lack of germ-line promoter methylation in BRCA1-negative families with familial breast cancer. |
Q51925023 | Large deletion at the TSC1 locus in a family with tuberous sclerosis complex. |
Q54442164 | Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. |
Q45999858 | Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate. |
Q74210371 | Large-scale screening for HFE mutations: methodology and cost |
Q50432530 | Large-scale screening of mitochondrial DNA mutations among Iranian patients with prelingual nonsyndromic hearing impairment. |
Q57735537 | Leiden V Factor and Spastic Cerebral Palsy in Mexican Children |
Q92143754 | Let's Keep the Sharing Alive |
Q92592403 | Let's Talk About Sex: Understanding Gender Beyond Genetics |
Q42763095 | Let's try it: me for you. |
Q60689202 | Letter to the Editor |
Q40609627 | Likelihood of attending bowel screening after a negative genetic test result: the possible influence of health professionals |
Q44407560 | Linkage and association between interleukin-6 gene polymorphisms and ischemic stroke: a family-based study in the northern Chinese Han population |
Q30882257 | Linking personal health data to genomic research |
Q88421119 | Liquid Biopsies |
Q92648560 | Liquid Biopsy in Solid Malignancy |
Q91841419 | Liver Enzymes and the Risk of Atrial Fibrillation: A Meta-Analysis of Prospective Cohort Studies |
Q38569674 | Living without a diagnosis: the parental experience. |
Q47215076 | LncRNA Expression Signature in Prediction of the Prognosis of Lung Adenocarcinoma |
Q96222499 | LncRNAs H19 and MEG3 as Universal Indicators of Metabolic Derangements? |
Q92658090 | Long Noncoding RNA HOX Transcript Antisense RNA Gene rs17720428 Single Nucleotide Polymorphism Is Associated with Gastric Cancer Risk and Prognosis |
Q93210525 | Long Noncoding RNA MRPL39 Inhibits Gastric Cancer Proliferation and Progression by Directly Targeting miR-130 |
Q93060362 | Long Noncoding RNA SERTAD2-3 Inhibits Osteosarcoma Proliferation and Migration by Competitively Binding miR-29c |
Q92067657 | Long Noncoding RNAs as Prognostic Markers for Colorectal Cancer in Saudi Patients |
Q90057559 | Long-Chain Noncoding RNA PVT1 Gene Polymorphisms Are Associated with the Risk and Prognosis of Colorectal Cancer in the Han Chinese Population |
Q47747986 | Long-Term Influence of CYP3A5, CYP3A4, ABCB1, and NR1I2 Polymorphisms on Tacrolimus Concentration in Chinese Renal Transplant Recipients |
Q52720362 | Low Expression of Long Noncoding RNA IRAIN Is Associated with Poor Prognosis in Non-M3 Acute Myeloid Leukemia Patients. |
Q91356782 | Low Gonadotropin Dosage Reduces Aneuploidy in Human Preimplantation Embryos: First Clinical Study in a UAE Population |
Q36092750 | Low expression of stathmin in tumor predicts high response to neoadjuvant chemotherapy with docetaxel-containing regimens in locally advanced breast cancer |
Q44698789 | Low prevalence and variable clinical presentation of troponin I and troponin T gene mutations in hypertrophic cardiomyopathy |
Q39159017 | Low prevalence of p.G352fsdelG mutation in phenylketonuria patients from Morocco |
Q50093235 | Lysophosphatidic Acid is a Biomarker for Peritoneal Carcinomatosis of Gastric Cancer and Correlates with Poor Prognosis |
Q47853174 | Lysyl oxidase G473A polymorphism is associated with increased risk of ovarian cancer |
Q82496365 | MCP-1 and CCR2 gene variants and the risk for osteoporosis and osteopenia |
Q38140061 | MCP-1-2518A>G polymorphism and myocardial infarction risk: a meta-analysis and meta-regression |
Q37628529 | MDR1 gene polymorphisms are associated with glucocorticoid-induced avascular necrosis of the femoral head in a Chinese population |
Q38984490 | MEFV gene mutations in Egyptian patients with familial Mediterranean fever |
Q51626872 | MICA gene polymorphism not associated with nonsyndromic cleft lip with or without cleft palate in the Japanese population? |
Q92486530 | MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study |
Q51592186 | MMP-9 1562C>T Gene Polymorphism and Efficacy of Glucocorticoid Therapy in Idiopathic Pulmonary Fibrosis Patients. |
Q38971454 | MMP1, 2, 3, 7, and 9 gene polymorphisms and urinary cancer risk: a meta-analysis |
Q46023766 | MTHFR 677TT alone and IRF6 820GG together with MTHFR 677CT, but not MTHFR A1298C, are risks for nonsyndromic cleft lip with or without cleft palate in an Indian population. |
Q43259055 | MTHFR C677T and factor V Leiden in recurrent pregnancy loss: a study among an endogamous group in North India |
Q45931443 | MTHFR C677T genotype frequency in patients of Middle Eastern descent as determined by real-time PCR and melting curve analysis. |
Q53149294 | MTHFR polymorphic variant C677T is associated to vascular complications in sickle-cell disease. |
Q42574051 | MTR, MTRR, and MTHFR Gene Polymorphisms and Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate |
Q50738173 | MTRR 66A>G polymorphism as maternal risk factor for Down syndrome: a meta-analysis. |
Q46225217 | MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C Polymorphisms and Disease Activity in Mexicans with Rheumatoid Arthritis Treated with Methotrexate |
Q53503946 | MYD88 expression and L265P mutation in mature B-cell non-Hodgkin lymphomas. |
Q54355731 | Major histocompatibility complex class I chain-related gene polymorphisms: associated with susceptibility to Kawasaki disease and coronary artery aneurysms. |
Q81432243 | Managing familial risk in genetic testing |
Q34190871 | Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit |
Q83189112 | Mapping of microsatellite instability in endoscopic normal colon |
Q37067016 | Marker gene screening for human mesenchymal stem cells in early osteogenic response to bone morphogenetic protein 6 with DNA microarray |
Q38241271 | Maternal plasma DNA testing: experience of women counseled at a prenatal diagnosis center |
Q47174422 | Maternal weight correction for alpha-fetoprotein: mathematical truncations revisited |
Q37092201 | Medical errors related to inappropriate genetic testing in liver transplant patients |
Q45300391 | Medical students' attitudes toward genetic testing of minors |
Q91335866 | Melanocortin 4 Receptor Gene Sequence Analyses in Diverse Populations |
Q57314780 | Men at Increased Risk of Developing Breast Cancer: Language Preferences for Naming a Cancer-Related Mutation |
Q88472806 | Meta-Analysis of the Relation Between IL10 Promoter Polymorphisms and Autoimmune Liver Disease Risk |
Q78178672 | Meta-PCR: a novel method for creating chimeric DNA molecules and increasing the productivity of mutation scanning techniques |
Q47609227 | Meta-analysis of GJB2 mutation 35delG frequencies in Europe |
Q39229702 | Meta-analysis of associations between the peroxisome proliferator-activated receptor-γ Pro12Ala polymorphism and susceptibility to nonalcoholic fatty liver disease, rheumatoid arthritis, and psoriatic arthritis |
Q98572760 | Metabolic Markers of Chronic Disease States |
Q39570310 | Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. |
Q33178815 | Methylation analysis of the fragile X syndrome by PCR. |
Q51380630 | Methylation of CDX2 as a Predictor in Poor Clinical Outcome of Patients with Colorectal Cancer. |
Q104610699 | Methylation of the Sclerostin (SOST) Gene in Serum Free DNA: A New Bone Biomarker? |
Q33864044 | Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities |
Q35836803 | Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome |
Q84908800 | Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b |
Q43265635 | Methylenetetrahydrofolate reductase and angiotensin-converting enzyme gene polymorphisms among Saudi population from Qassim region |
Q39447741 | Methylenetetrahydrofolate reductase gene polymorphisms in Egyptian women with unexplained recurrent pregnancy loss |
Q44132206 | Methylenetetrahydrofolate reductase gene polymorphisms in Turkish children with attention-deficit/hyperactivity disorder |
Q87436690 | Methylenetetrahydrofolate reductase polymorphism C677T is a protective factor for pediatric acute lymphoblastic leukemia in the Chinese population: a meta-analysis |
Q54394479 | Methylenetetrahydrofolate reductase polymorphisms C677T and A1298C as maternal risk factors for Down syndrome in Jordan. |
Q50306230 | Methylenetetrahydrofolate reductase polymorphisms C677T and risk of autism in the Chinese Han population. |
Q46351682 | Methylenetetrahydrofolate reductase polymorphisms are related to male infertility in Brazilian men. |
Q51566494 | Mexican Childhood Acute Lymphoblastic Leukemia: A Pilot Study of the MDR1 and MTHFR Gene Polymorphisms and Their Associations with Clinical Outcomes. |
Q39973320 | MiRNA-Related Polymorphisms in miR-146a and TCF21 Are Associated with Increased Susceptibility to Coronary Artery Disease in an Iranian Population. |
Q39054928 | Micro RNA-146a But Not IRAK1 is Associated with Rheumatoid Arthritis in the Tunisian Population |
Q46653668 | MicroRNA 146a expression in rheumatoid arthritis: association with tumor necrosis factor-alpha and disease activity. |
Q94460130 | MicroRNA Binding Site Polymorphisms of the Long-Chain Noncoding RNA MALAT1 are Associated with Risk and Prognosis of Colorectal Cancer in Chinese Han Population |
Q40540244 | MicroRNA Gene Polymorphisms in Evaluating Therapeutic Efficacy After Transcatheter Arterial Chemoembolization for Primary Hepatocellular Carcinoma |
Q46258094 | MicroRNA-146a, a good biomarker and potential therapeutic target for rheumatoid arthritis |
Q40388650 | MicroRNA-223 Is Upregulated in Active Tuberculosis Patients and Inhibits Apoptosis of Macrophages by Targeting FOXO3. |
Q54722283 | MicroRNAs Come of Age in Diagnostics. |
Q43107320 | Microarray-based detection of CYP1A1, CYP2C9, CYP2C19, CYP2D6, GSTT1, GSTM1, MTHFR, MTRR, NQO1, NAT2, HLA-DQA1, and AB0 allele frequencies in native Russians. |
Q38327245 | Microarray-based detection of mannose-binding lectin 2 (MBL2) polymorphisms in a routine clinical setting |
Q39157545 | Microsomal Epoxide Hydrolase Gene Polymorphisms and Susceptibility to Chronic Obstructive Pulmonary Disease in the Tunisian Population |
Q53672359 | Might there be a link between intron 3 VNTR polymorphism in the XRCC4 DNA repair gene and the etiopathogenesis of rheumatoid arthritis? |
Q54539976 | Misclassification of allele CYP2C19*10 as CY2C19*2 by a commonly used PCR-RFLP procedure. |
Q36553950 | Mitochondrial COX2 G7598A mutation may have a modifying role in the phenotypic manifestation of aminoglycoside antibiotic-induced deafness associated with 12S rRNA A1555G mutation in a Han Chinese pedigree |
Q39052168 | Mitochondrial DNA Copy Number in Egyptian Patients with Hepatitis C Virus-Related Hepatocellular Carcinoma |
Q36225178 | Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort |
Q83814300 | Mitochondrial insertion-deletion polymorphism: role in disease pathology |
Q46738499 | Modification of the coronary artery disease risk associated with the presence of traditional risk factors by insertion/deletion polymorphism of the ACE gene. |
Q41468892 | Modified tetra-primer ARMS PCR as a single-nucleotide polymorphism genotyping tool. |
Q57235049 | Molecular Analysis in Brazilian Cystic Fibrosis Patients Reveals Five Novel Mutations |
Q50310624 | Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. |
Q93060357 | Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing |
Q93264741 | Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family |
Q91896291 | Molecular Diagnostics of Cystic Fibrosis in Serbia: Our Approach to Meet the Diagnostic Challenges |
Q40462159 | Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation. |
Q91971087 | Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing |
Q92750749 | Molecular Prognostic Value of Circulating Epstein-Barr Viral DNA in Nasopharyngeal Carcinoma: A Meta-Analysis of 27,235 Cases in the Endemic Area of Southeast Asia |
Q91001335 | Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients |
Q58835415 | Molecular Study of the PCA3 Gene: Genotypic Analysis of PCA3 Polymorphism -845G>A and Metastatic Prostate Cancer |
Q28295638 | Molecular analysis of alpha/beta-thalassemia in a southern Chinese population |
Q43005312 | Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect |
Q98229156 | Molecular and Biochemical Parameters Related to Plasma Mannose Levels in Coronary Artery Disease Among Nondiabetic Patients |
Q40352212 | Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population. |
Q39811704 | Molecular and hematological characterization of hemoglobin H disease in the Bengali population of Kolkata, India |
Q38862460 | Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity. |
Q54578152 | Molecular basis of cystic fibrosis in Lithuania: incomplete CFTR mutation detection by PCR-based screening protocols. |
Q39700134 | Molecular basis of β-thalassemia in Karnataka, India. |
Q54394482 | Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency. |
Q50631498 | Molecular characterization of Prader-Willi syndrome by real-time PCR. |
Q73356684 | Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses |
Q53160895 | Molecular evaluation of CEBPA gene mutation in normal karyotype acute myeloid leukemia: a comparison of two methods and report of novel CEBPA mutations from Indian acute myeloid leukemia patients. |
Q49168790 | Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate |
Q46825007 | Molecular genetic testing in the United States: comparison with international practice |
Q54077358 | Molecular genetic testing of beta-thalassemia patients of Indian origin and a novel 8-bp deletion mutation at codons 36/37/38/39. |
Q48647138 | Molecular genetics external quality assessment pilot scheme for KRAS analysis in metastatic colorectal cancer |
Q34440012 | Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations |
Q79671626 | Molecular mechanisms underlying thalassemia intermedia in Iran |
Q38418993 | Molecular monitoring of response to imatinib (Glivec) in chronic myeloid leukemia patients: experience at a tertiary care hospital in Saudi Arabia |
Q83150305 | Molecular pathogenesis of endometriosis; Toll-like receptor-4 A896G (D299G) polymorphism: a novel explanation |
Q54270490 | Molecular prenatal diagnosis of autosomal recessive spinal muscular atrophies using quantification polymerase chain reaction. |
Q39460732 | Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role |
Q51951069 | Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation. |
Q82609614 | Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens |
Q38866311 | Molecular spectrum of PIK3CA gene mutations in patients with nonsmall-cell lung cancer in Turkey |
Q47998969 | Molecular spectrum of alpha-thalassemia mutations in microcytic hypochromic anemia patients from Saudi Arabia |
Q36614014 | Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland |
Q91728233 | More Than Meets the Eye: Our Microbiome May Be Key to Decreasing Infection |
Q48611815 | Motivations and concerns of women considering genetic testing for breast cancer: a comparison between affected and at-risk probands |
Q34283887 | Moving forward: putting genetic testing to use |
Q51872862 | Multiallelic synthetic quality control material: lessons learned from the cystic fibrosis external quality assessment scheme. |
Q40066874 | Multiple de novo mutations in the MECP2 gene |
Q53872395 | Multiplex PCR-RFLP assay for detection of factor V Leiden and prothrombin G20210A. |
Q40065160 | Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements |
Q36476787 | Multiplex allele-specific amplification from whole blood for detecting multiple polymorphisms simultaneously |
Q50483257 | Multiplex detection of common mutations in the Connexin-26 gene. |
Q48000965 | Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients |
Q54325293 | Multiplex quantitative fluorescent polymerase chain reaction for detection of aneuploidies. |
Q54447160 | Mutation Analysis and Prenatal Exclusion of Fibrodysplasia Ossificans Progressiva in a Chinese Fetus. |
Q91823363 | Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations |
Q90998694 | Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia |
Q45861794 | Mutation analysis and genetic service: the construction and use of national confidential databases of mutations and pedigrees |
Q36225189 | Mutation analysis in Chinese patients with Cornelia de Lange syndrome |
Q41922990 | Mutation analysis in Rett syndrome |
Q33149057 | Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A. |
Q44487284 | Mutation analysis of SLC7A9 in cystinuria patients in Sweden |
Q33498099 | Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients |
Q80521242 | Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India |
Q36174305 | Mutation analysis of isocitrate dehydrogenase in acute lymphoblastic leukemia |
Q46738495 | Mutation analysis of oxisterol-binding-protein gene in patients with age-related macular degeneration |
Q83386311 | Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations |
Q35752173 | Mutation analysis of the CYP21A2 gene in the Iranian population |
Q54431702 | Mutation analysis of the HBB gene in selected Bangladeshi beta-thalassemic individuals: presence of rare mutations. |
Q34190852 | Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate |
Q44894059 | Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes |
Q54682783 | Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis. |
Q30756569 | Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan |
Q42724509 | Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment |
Q33888417 | Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder |
Q83261524 | Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants |
Q33721323 | Mutation testing of early-onset breast cancer genes BRCA1 and BRCA2. |
Q83925823 | Mutation-sensitive molecular switch method to detect CES1A2 mutation in the Chinese Han and Yao populations |
Q38873589 | Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms |
Q91577257 | Mutational Screening of GLI3, SHH, and SHH ZRS in 78 Chinese Children with Nonsyndromic Polydactyly |
Q78823860 | Mutational analysis of the hMSH6 gene in familial and early-onset colorectal and endometrial cancer in Israeli patients |
Q44528843 | Mutational analysis of the human dihydropyrimidine dehydrogenase gene by denaturing high-performance liquid chromatography |
Q87418699 | Mutational screening of the SOCS3 gene promoter in metastatic colorectal cancer patients |
Q50443443 | Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. |
Q73015990 | Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia |
Q34405763 | Mutations in the CHD7 gene: the experience of a commercial laboratory |
Q56636874 | Mutations in the Regulatory Domain of Phenylalanine Hydroxylase and Response to Tetrahydrobiopterin |
Q57717361 | Mutations in the SLC3A1 Gene in Cystinuric Patients: Frequencies and Identification of a Novel Mutation |
Q34126079 | Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India |
Q47933682 | Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia |
Q33534828 | Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria |
Q47998919 | Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome |
Q54160572 | Myostatin Gene Polymorphism in an Elderly Sarcopenic Turkish Population. |
Q36225184 | N-acetyltransferase-2 genotypes among patients with rheumatoid arthritis attending Jordan University Hospital |
Q39035109 | NAT2 Genotypes in Moroccan Patients with Hepatotoxicity Due to Antituberculosis Drugs |
Q53749205 | NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. |
Q36301665 | NIST RM 8398: Standardizing Discoveries |
Q61657040 | NKX2.5/NKX2.6 Mutations Are Not a Common Cause of Isolated Type 1 Truncus Arteriosus in a Small Cohort of Multiethnic Cases |
Q86905847 | NPM1 Mutation Detection in Acute Myeloid Leukemia: A Method Comparison Study |
Q90302072 | NUDT15 and TPMT Genetic Polymorphisms Are Related to Azathioprine Intolerance in Chinese Patients with Rheumatic Diseases |
Q60631147 | Neonatal Screening for Hemoglobinopathies: Results of a Public Health System in South Brazil |
Q78178476 | Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus |
Q33874867 | Neural tube defect prevalence in California (1990-1994): eliciting patterns by type of defect and maternal race/ethnicity. |
Q47826305 | New Institute of Medicine Report on Molecular Biomarkers. |
Q84485528 | New analysis method of myotonic dystrophy 1 based on quantitative fluorescent polymerase chain reaction |
Q50353838 | New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation. |
Q54387288 | New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy. |
Q80974253 | New mutations in the Wilson disease gene, ATP7B: implications for molecular testing |
Q37611020 | New trends in molecular biomarker discovery for breast cancer. |
Q91577250 | Newborn Screening and Health Communications |
Q38458224 | Newborn screening, informed consent, and future use of archived tissue samples |
Q34113851 | Newborn screening: adapting to advancements in whole-genome sequencing |
Q54134358 | Next-Generation Molecular Diagnostics Provide Evidence Suggestive of a Role for Nontraditional Bacterial Pathogens in Osteoarthritis of the Knee. |
Q36367741 | Next-Generation Testing for Cancer Risk: Perceptions, Experiences, and Needs Among Early Adopters in Community Healthcare Settings |
Q37067040 | Next-generation sequencing in genetic hearing loss |
Q33721297 | Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing |
Q89933702 | No Evidence for the Pathogenicity of the BRCA2 c.6937 + 594T>G Deep Intronic Variant: A Case-Control Analysis |
Q79771199 | No Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families |
Q49967497 | No Seat at the Recommendations Table? |
Q43956956 | No association between COMT Val158Met polymorphism and prostate cancer risk: a meta-analysis |
Q39981976 | No association between bone mineral density and transforming growth factor beta gene T(861-20)-C polymorphism in Turkish postmenopausal women. |
Q36225226 | No association of catechol-O-methyltransferase polymorphisms with schizophrenia in the Han Chinese population |
Q38359866 | No association of the rs9722 C >T in the S100B gene and susceptibility to major depression in a Chinese population |
Q57266769 | Non-Uptake of Predictive Genetic Testing for BRCA1/2 among Relatives of Known Carriers: Attributes, Cancer Worry, and Barriers to Testing in a Multicenter Clinical Cohort |
Q46191704 | Nonenriched PCR Versus Mutant-Enriched PCR in Detecting Selected Epidermal Growth Factor Receptor Gene Mutations Among Nonsmall-Cell Lung Cancer Patients. |
Q52934423 | Noninvasive Diagnosis of Fetal Gender: Utility of Combining DYS14 and SRY. |
Q36225300 | Noninvasive prenatal diagnosis of Down syndrome in samples from Southwest Chinese gravidas using pregnant plasma placental RNA allelic ratio |
Q53368101 | Not just trials and tribulations-we need results! |
Q84769557 | Not your grandfather's genetic testing oversight |
Q86643800 | Nothing about us without us: guidelines for genetic testing |
Q84925244 | Notice of retraction: Analysis of azoospermia factor loci polymorphisms among Tunisian infertile men with varicocele |
Q51753513 | Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin. |
Q46180443 | Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients |
Q43199271 | Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent |
Q50088604 | Novel Genetic Markers for Common Degenerative Orthopedic Diseases |
Q47409201 | Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome. |
Q50225305 | Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI. |
Q93210491 | Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree |
Q34815404 | Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus |
Q74210364 | Novel method for molecular detection of the two common hereditary hemochromatosis mutations |
Q50429587 | Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment. |
Q48379146 | Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion |
Q45327319 | Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses |
Q45178798 | Novel mutations of NODAL gene in Chinese patients with congenital heart disease |
Q50434507 | Novel splice mutation in microthalmia-associated transcription factor in Waardenburg Syndrome. |
Q42599922 | Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients. |
Q46306053 | Nucleic acid from saliva and salivary cells for noninvasive genotyping of Crohn's disease patients |
Q38232702 | Nucleotide excision repair gene ERCC1 19007T>C polymorphism contributes to lung cancer susceptibility: a meta-analysis |
Q47998930 | Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome. |
Q39119504 | Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability. |
Q50727922 | OLR1 and Loxin Expression in PBMCs of Women with a History of Unexplained Recurrent Miscarriage: A Pilot Study. |
Q35180917 | Obama's Precision Medicine Initiative |
Q50955279 | Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes. |
Q80757044 | On the testing load incurred by cascade genetic carrier screening for Mendelian disorders: a brief report |
Q81468038 | One multiplex control for 29 cystic fibrosis mutations |
Q54509460 | One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2. |
Q54399551 | Optimization of high-resolution melting analysis for simultaneous genotyping of two 11β-hydroxysteroid dehydrogenase type 1 gene polymorphisms. |
Q51939309 | Optimized pH method for DNA elution from buccal cells collected in Whatman FTA cards. |
Q36720721 | Overexpression and secretion of the soluble CTLA-4 splice variant in various autoimmune diseases and in cases with overlapping autoimmunity |
Q100672460 | Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses |
Q38759620 | Overexpression of SORCIN is a Prognostic Biomarker for Multidrug-Resistant Pediatric Acute Lymphoblastic Leukemia and Correlates with Upregulated MDR1/P-gp |
Q39741826 | Overexpression of human CAP10-like protein 46 KD in T-acute lymphoblastic leukemia and acute myelogenous leukemia |
Q56897181 | Oversecretion of soluble CTLA-4 in various autoimmune diseases overlapping celiac disease |
Q38031609 | Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect |
Q34722573 | Ownership of uncertainty: healthcare professionals counseling and treating women from hereditary breast and ovarian cancer families who receive an inconclusive BRCA1/2 genetic test result |
Q42962766 | Oxidative stress, Helicobacter pylori, and OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphisms in a Turkish population with colorectal carcinoma |
Q88891863 | PARP-1 Overexpression as an Independent Prognostic Factor in Adult Non-M3 Acute Myeloid Leukemia |
Q85319328 | PARP-1 rs3219073 polymorphism may contribute to susceptibility to lung cancer |
Q45305674 | PCR approach for detection of Fragile X syndrome and Huntington disease based on modified DNA: limits and utility |
Q78178587 | PCR assay for screening patients at risk for 22q11.2 deletion |
Q45042092 | PCR-RFLP genotyping assay for a lactase persistence polymorphism upstream of the lactase-phlorizin hydrolase gene |
Q73834625 | PCR-RFLP genotyping assay for the Bcl I polymorphism of the beta-fibrinogen gene |
Q38459784 | PCR-based methylation testing for Prader-Willi or Angelman syndromes using archived fixed-cell suspensions |
Q50458353 | PCR-based restriction fragment length polymorphism and haplotype of the most common mutation L176F in the beta-glucuronidase gene. |
Q54460580 | PCR-quality DNA isolation from human bronchial aspirates and buccal and eyelid swabs by a simple procedure based on alkaline lysis. |
Q51068994 | PI3K Overexpression and PIK3CA Mutations Are Associated with Age, Tumor Staging, and Other Clinical Characteristics in Chinese Patients with Esophageal Squamous Cell Carcinoma. |
Q54410439 | PORCN Mutations and Variants Identified in Patients with Focal Dermal Hypoplasia Through Diagnostic Gene Sequencing |
Q88306596 | PROGINS Polymorphism of the Progesterone Receptor Gene and the Susceptibility to Uterine Leiomyomas: A Systematic Review and Meta-Analysis |
Q57235008 | PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype |
Q43005311 | PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. |
Q34364668 | Papillary renal cell carcinoma: analysis of germline mutations in the MET proto-oncogene in a clinic-based population |
Q91791422 | Paraoxonase-1 Polymorphisms (L55M/Q192R) and Activities (PONase/AREase) in Patients with Idiopathic Recurrent Early Pregnancy Loss: A Preliminary Study |
Q81468070 | Parental mosaicism for trisomy 21: problems with its detection and an approach to determining its population rate |
Q35966984 | Parenting through genetic uncertainty: themes in the disclosure of breast cancer risk information to children |
Q39022380 | Partial microdeletions in the Y-chromosome AZFc region are not a significant risk factor for spermatogenic impairment in Tunisian infertile men. |
Q35376763 | Participating in next generation sequencing |
Q36092738 | Pathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma |
Q58461848 | Patient vs. Physician as the Target of Educational Outreach about Screening for an Inherited Susceptibility to Colorectal Cancer |
Q57640579 | Patients' Attitudes Towards the Return of Incidental Findings After Research with Residual Tissue: A Mixed Methods Study |
Q80521264 | Patterns of chromosomal translocations identified by a birth defects registry, Hawaii, 1986-2000 |
Q47582153 | Pediatric Issues in Return of Results and Incidental Findings: Weighing Autonomy and Best Interests |
Q40056345 | Penetrance and the Healthy Elderly |
Q36553961 | Perception, experience, and response to genetic discrimination in Huntington's disease: the Australian results of The International RESPOND-HD study |
Q36041690 | Perceptions about genetic testing for the susceptibility to alcohol dependence and other multifactorial diseases |
Q74613705 | Perceptions of genetics research as harmful to society: differences among samples of African-Americans and European-Americans |
Q50119994 | Perceptions of population cystic fibrosis prenatal and preconception carrier screening among individuals with cystic fibrosis and their family members |
Q84201553 | Permission to share biospecimens |
Q50751333 | Personal DNA testing in college classrooms: perspectives of students and professors. |
Q34211470 | Personal factors associated with reported benefits of Huntington disease family history or genetic testing |
Q53230115 | Personal identity, advance directives, and genetic testing for Alzheimer disease. |
Q52325190 | Personalized Dosing of Dichloroacetate Using GSTZ1 Clinical Genotyping Assay. |
Q34976139 | Pesticide-induced gene mutations and Parkinson disease risk: a meta-analysis |
Q46034401 | Pharmacogenetic screening of N-acetyltransferase 2, thiopurine s-methyltransferase, and 5,10-methylene-tetrahydrofolate reductase polymorphisms in Northwestern Mexicans. |
Q43205615 | Pharmacogenetic testing in the United Kingdom genetics and immunogenetics laboratories |
Q62607035 | Pharmacogenetics of Clopidogrel: Comparison Between a Standard and a Rapid Genetic Testing |
Q43620426 | Pharmacogenetics of coumarin dosing: prevalence of CYP2C9 and VKORC1 polymorphisms in the Lebanese population |
Q44999132 | Phenotype-genotype correlation in 295 Chinese deaf subjects with biallelic causative mutations in the GJB2 gene |
Q39571511 | Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length |
Q53274333 | Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype. |
Q43868192 | Physicians' preparedness for integration of genomic and pharmacogenetic testing into practice within a major healthcare system |
Q74210377 | Pitfalls in the genetic diagnosis of hereditary hemochromatosis |
Q54382639 | Plasminogen activator inhibitor type-1 gene 4G/5G polymorphism and polycystic ovary syndrome. |
Q54473311 | Plasminogen activator inhibitor type-1 gene 4G/5G polymorphism in Turkish adult patients with asthma. |
Q54432401 | Plasminogen activator inhibitor type-1 gene 4G/5G polymorphism is associated with hypertensive patients in the Turkish population. |
Q33998576 | Plasminogen activator inhibitor-1 and susceptibility to lung cancer: a population genetics perspective. |
Q47355672 | Plasminogen activator inhibitor-1 polymorphism in women with pre-eclampsia |
Q85830058 | Platelet activation through the efficacy of aspirin in congenital heart disease patients undergoing transcatheter closure of atrial septal defects or ventricular septal defects |
Q33705899 | Platelet glycoprotein IIIa gene polymorphism (Leu33Pro) and aspirin resistance in a very elderly Chinese population |
Q100546117 | Please Wait for the Host to Start This Meeting: A Push for H.R. 3235 Amid COVID-19 |
Q77480336 | Points to consider in designing a clinical trial to ascertain the utility of a genetic screening test |
Q39736099 | Polymerase Chain Reaction-Electrospray-Time-of-Flight Mass Spectrometry Versus Culture for Bacterial Detection in Septic Arthritis and Osteoarthritis. |
Q82091520 | Polymerase chain reaction-based analysis using deaminated DNA of dodecamer expansions in CSTB, associated with Unverricht-Lundborg myoclonus epilepsy |
Q35376400 | Polymorphic regions in the interleukin-1 gene and susceptibility to chronic periodontitis: a genetic association study |
Q54348795 | Polymorphism analysis of MTHFR, factor II, and factor V genes in the Pomeranian population of Espirito Santo, Brazil. |
Q45230564 | Polymorphism of ERCC2 Asp312Asn with lung cancer risk: evidence from 20,101 subjects |
Q54387283 | Polymorphism of xenobiotic-metabolizing genes and breast cancer susceptibility in North Indian women. |
Q49489525 | Polymorphism rs10483727 in the SIX1/SIX6 Gene Locus Is a Risk Factor for Primary Open Angle Glaucoma in a Saudi Cohort |
Q50097443 | Polymorphism rs11656696 in GAS7 Is Not Associated with Primary Open Angle Glaucoma in a Saudi Cohort |
Q84566994 | Polymorphisms -1082 G/A and -819 C/T in the interleukin-10 gene are not associated with gout susceptibility in the Chinese Han male population |
Q58855511 | Polymorphisms Involved in Folate Metabolism Pathways and the Risk of the Development of Childhood Acute Leukemia |
Q43501985 | Polymorphisms in serotonergic pathways influence the outcome of antidepressant therapy in psychiatric inpatients |
Q34284010 | Polymorphisms in the DNA repair gene ERCC2/XPD and breast cancer risk: a HapMap-based case-control study among Han Women in a Chinese less-developed area |
Q37142929 | Polymorphisms in the ERCC1 and XPF genes and risk of breast cancer in a Chinese population |
Q50943869 | Polymorphisms in the Glucocorticoid Receptor Gene and Associations with Glucocorticoid-Induced Avascular Osteonecrosis of the Femoral Head. |
Q40300074 | Polymorphisms in the IL-17 Gene (rs2275913 and rs763780) Are Associated with Hepatitis B Virus Infection in the Han Chinese Population |
Q38918136 | Polymorphisms in the IL2RA and IL2RB genes in inflammatory bowel disease risk. |
Q98180884 | Polymorphisms in the Tumor Necrosis Factor Genes Are Associated with Breast Cancer in the Moroccan Population |
Q57785569 | Polymorphisms in the Uncoupling Protein 2 Gene Are Associated with Diabetic Retinopathy in Han Chinese Patients with Type 2 Diabetes |
Q54337830 | Polymorphisms in the methylene tetrahydrofolate reductase gene and their unique combinations are associated with an increased susceptibility to the renal cancers. |
Q45559638 | Polymorphisms of Glutathione-S-Transferase Genes and the Risk of Aerodigestive Tract Cancers in the Northeast Indian Population |
Q54363925 | Population mutation scanning of human GHR by meltMADGE and identification of a paucimorphic variant. |
Q74210349 | Population screening for hemochromatosis by PCR using sequence-specific primers |
Q43259053 | Population severance in manipur at dopamine receptor D2 locus |
Q36374582 | Population structure of Aggarwals of north India as revealed by molecular markers |
Q86492024 | Population-based testing: let's have population-based discussion |
Q98154862 | Positive Association of the JAG1 rs1327235 Genotype with Coronary Artery Disease in Men, the Tampere Adult Population Cardiovascular Risk Study |
Q37519396 | Positive association between rs10918859 of the NOS1AP gene and coronary heart disease in male Han Chinese |
Q104739663 | Possible Association of PER2/PER3 Variable Number Tandem Repeat Polymorphism Variants with Susceptibility and Clinical Characteristics in Pancreatic Cancer |
Q87514108 | Possible association of FAS and FASLG polymorphisms with the risk of idiopathic azoospermia in southeast Turkey |
Q38889448 | Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population |
Q43265112 | Possible association of combined vitamin D receptor and estrogen receptor genotypes and low bone mineral density in Jordanian postmenopausal women |
Q36408114 | Possible association of the GSK3β gene with the anxiety symptoms of major depressive disorder and P300 waveform |
Q74210412 | Postscript: a status report on hemochromatosis population screening |
Q51871144 | Potential consumers' attitudes toward psychiatric genetic research and testing and factors influencing their intentions to test. |
Q34112125 | Potential nonresponse bias in a clinical examination after initial screening using iron phenotyping and HFE genotyping in the hemochromatosis and iron overload screening study |
Q45126034 | Practice variations in biochemical screening for Down syndrome |
Q73535688 | Prader-Willi syndrome: genetic tests and clinical findings |
Q74741436 | Pre-counseling education materials for BRCA testing: does tailoring make a difference? |
Q83450905 | Precision medicine: generating real-world evidence for companion diagnostics |
Q78684519 | Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction |
Q81826219 | Preconception cystic fibrosis carrier screening: costs and consequences |
Q48525943 | Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population |
Q81347883 | Preconceptional cystic fibrosis carrier screening: opinions of general practitioners, gynecologists, and pediatricians in the Netherlands |
Q80757018 | Predicting the performance of a genetic testing service for cancer susceptibility |
Q36889793 | Prediction value of miR-483 and miR-214 in prognosis and multidrug resistance of esophageal squamous cell carcinoma |
Q81693427 | Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test |
Q43950693 | Predictors of belief that genetic test information about hemochromatosis should be shared with family members |
Q81158893 | Predominant Ashkenazi BRCA1/2 mutations in families with pancreatic cancer |
Q34309885 | Pregnancy as foreground in cystic fibrosis carrier testing decisions in primary care |
Q90127882 | Preliminary Exploration of hsa_circ_0032131 Levels in Peripheral Blood as a Potential Diagnostic Biomarker of Osteoarthritis |
Q54458530 | Preliminary results in a study regarding the relationship between perlecan gene polymorphism and spinal muscular atrophy type I disease. |
Q38464323 | Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion. |
Q54539980 | Prenatal diagnosis and genetic counseling of a Chinese Alport syndrome kindred. |
Q49074717 | Prenatal diagnosis and the subsequent mutation analysis in a family with carbohydrate-deficient glycoprotein type I syndrome: growing evidence to support founder effects within CDG1 populations |
Q84478699 | Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets |
Q78178661 | Prenatal diagnosis in congenital contractural arachnodactyly |
Q41938069 | Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene |
Q73015972 | Prenatal diagnosis of spinal muscular atrophy by direct molecular analysis: efficacy and potential pitfalls |
Q47378694 | Prenatal diagnosis of spinal muscular atrophy in Macedonian families |
Q54767090 | Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques. |
Q73535683 | Prenatal genotyping for the RhD blood group antigen: considerations in developing an accurate test |
Q47566614 | Prenatal identification of a novel R937P L1CAM missense mutation |
Q50433166 | Prenatal screening for the 35delG GJB2, del (GJB6-D13S1830), and del (GJB6-D13S1854) mutations in the Romanian population. |
Q78178653 | Prenatal sexing and sex determination in infants with ambiguous genitalia by polymerase chain reaction |
Q33721342 | Prepregnancy genetic testing for age-related aneuploidies by polar body analysis |
Q45861798 | Prepregnancy testing for single-gene disorders by polar body analysis. |
Q39208463 | Presymptomatic diagnosis in Huntington's disease: the Mexican experience |
Q104514692 | Pretreatment to Posttreatment Hypoxia Inducible Factor-1α Ratios as a Potentially Predictive Marker for First-Line Treatment in Nonsmall Cell Lung Cancer Patients without Known Driver Mutations |
Q46618446 | Prevalence and molecular characterization of alpha-thalassemia syndromes among Indians |
Q53801267 | Prevalence of CTLA-4 polymorphism A49G in Ashkenazi Jews. |
Q47584118 | Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss. |
Q46972962 | Prevalence of UGT1A1 gene polymorphism in patients with hemolytic anemia in southern Brazil |
Q47612857 | Prevalence of alleles associated with HIV resistance in Russia. |
Q73834627 | Prevalence of cystic fibrosis mutations in Israeli Jews |
Q44619353 | Prevalence of hemoglobinopathy disorders in adult patients sent for diagnosis of anemia in saudi arabia |
Q51347500 | Prevalence of human papillomavirus infection in a Kashmiri ethnic female population. |
Q45294623 | Prevalence of major depression one year after predictive testing for Huntington's disease |
Q43167346 | Prevalence of mitochondrial tRNA gene mutations and their association with specific clinical phenotypes in patients with type 2 diabetes mellitus of Coimbatore. |
Q34779797 | Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China. |
Q46203722 | Prevalence of prothrombotic polymorphisms in Greece |
Q78178553 | Prevalence of recurring BRCA mutations among Ashkenazi Jewish women with breast cancer |
Q50468343 | Prevalence of the 35delG mutation in the GJB2 gene of patients with nonsyndromic hearing loss from Croatia. |
Q81347873 | Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain |
Q39963644 | Prevalence of the C677T single-nucleotide polymorphism in the methylenetetrahydrofolate reductase gene among Pakistani ethnic groups |
Q54531814 | Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas. |
Q36174293 | Prevalence of the NKG2D Thr72Ala polymorphism in patients with cervical carcinoma. |
Q47823625 | Prevalence of β-Thalassemia and hemoglobin E in two migrant populations of Manipur, North East India. |
Q86685773 | Pri-miR-34b/c rs4938723 polymorphism is associated with a decreased risk of gastric cancer |
Q54484596 | Primer site polymorphisms: potential implications for bone marrow engraftment monitoring. |
Q97544967 | Privacy in the Coronavirus Era |
Q73717889 | Professional and personal attitudes about access and confidentiality in the genetic testing of children: a pilot study |
Q35693724 | Professional perspectives about pharmacogenetic testing and managing ancillary findings |
Q92845369 | Prognostic Implications of Tripartite Motif Containing 24 Expression Levels in Patients with Solid Tumors: A Systematic Review and Meta-Analysis |
Q100496080 | Prognostic Role of Circular RNAs Expression in Bladder Carcinoma: A Meta-Analysis |
Q89916305 | Prognostic Role of Zinc Finger Homeobox 4 in Ovarian Serous Cystadenocarcinoma |
Q39881848 | Prognostic Significance of Dickkopf-1 in Gastric Cancer Survival: A Meta-Analysis |
Q91143824 | Prognostic Significance of Murine Double Minute 2 Expression in Tumor Cells in Upper Tract Urothelial Carcinoma: An Analysis of 341 Cases in a Large Chinese Center |
Q47265532 | Prognostic and Clinicopathological Significance of BAP1 Protein Expression in Different Types of Cancer-A Meta-Analysis |
Q33705658 | Prognostic importance of single-nucleotide polymorphisms in IL-6, IL-10, TGF-β1, IFN-γ, and TNF-α genes in chronic phase chronic myeloid leukemia |
Q87187697 | Prognostic value of apolipoprotein E epsilon4 allele in patients with traumatic brain injury: a meta-analysis and meta-regression |
Q91826877 | Progress of Exosomes in the Diagnosis and Treatment of Pancreatic Cancer |
Q74784478 | Progress of a Comprehensive Familial Cancer Genetic Counseling Program in the Era of BRCA1 and BRCA2 |
Q41642334 | Progressing Preemptive Genotyping of CYP2C19 Allelic Variants for Sickle Cell Disease Patients. |
Q36979414 | Prolactin receptor gene polymorphisms are associated with gestational diabetes |
Q92509160 | Promoter Polymorphism (-308G/A) of Tumor Necrosis Factor-Alpha (TNF-α) Gene and Asthma Risk: An Updated Meta-Analysis |
Q51626720 | Proposed algorithm for the best detection of different bcr-abl gene fusion transcripts in molecular diagnostics laboratories: experience of a major referral center. |
Q36041671 | Prostate cancer in elderly Croatian men: 5-HT genetic polymorphisms and the influence of androgen deprivation therapy on osteopenia--a pilot study |
Q50573564 | Providing appropriate genetic information to healthy carriers of hemoglobinopathy can be a welcome and safe initiative: the Latium example. |
Q39749886 | Providing genetic risk information to parents of newborns with sickle cell trait: role of the general practitioner in neonatal screening |
Q56784519 | Psychiatrists' attitudes regarding genetic testing and patient safeguards: a preliminary study |
Q46965042 | Psychological aspects of genetic counseling. XIV. Nondirectiveness and counseling skills |
Q48938210 | Psychological impact of genetic counseling for hereditary nonpolyposis colorectal cancer: the role of cancer history, gender, age, and psychological distress. |
Q81432197 | Psychological impact of genetic testing for breast cancer susceptibility in women of Ashkenazi Jewish background: a prospective study |
Q36408106 | Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation |
Q37421773 | Psychosocial aspects of DNA testing for hereditary hemochromatosis in at-risk individuals: a systematic review |
Q51939307 | Psychosocial correlates of pregnant women's attitudes toward prenatal maternal serum screening and invasive diagnostic testing: beyond traditional risk status. |
Q51062997 | Psychosocial impact of C282Y mutation testing for hemochromatosis. |
Q51905353 | Psychosocial impact of genetic testing for hemochromatosis in the HEIRS Study: a comparison of participants recruited in Canada and in the United States. |
Q42650006 | Public Views on Genetics and Genetic Testing: A Survey of the General Public in Belgium |
Q79771230 | Public attitudes toward genetic testing: perceived benefits and objections |
Q36720757 | Public knowledge of and attitudes toward genetics and genetic testing |
Q35836799 | Public perspectives about pharmacogenetic testing and managing ancillary findings |
Q33721271 | Public understanding of genetics and Alzheimer disease |
Q54250484 | Qualitative and quantitative evaluation of the BCR-ABL fusion gene in chronic myelogenous leukemia by flourescence in situ hybridization and molecular genetic methods. |
Q37912170 | Quality assessment of genetic counseling process in the context of presymptomatic testing for late-onset disorders: a thematic analysis of three review articles |
Q53339463 | Quality control and monitoring for the isolation process of mesenchymal stem cells and their differentiation into osteoblasts. |
Q38078010 | Quantitative assessment of the association between the GSTM1-null genotype and the risk of childhood asthma |
Q54439681 | Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. |
Q82916558 | Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications |
Q54578148 | Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients. |
Q46901472 | Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization |
Q74784473 | Questions raised by BRCA1/2-carrier screening programs |
Q35036553 | RFC-1 80G>A polymorphism in case-mother/control-mother dyads is associated with risk of nephroblastoma and neuroblastoma |
Q47998994 | RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease |
Q46322635 | Racial and ethnic variations in knowledge and attitudes about genetic testing |
Q92388364 | Raising the Bar at GTMB |
Q57278948 | Rapid Detection of Common Southeast Asian ß-Thalassemia Mutations by Nonisotopic Multiplex PCR-SSCP Analysis |
Q57278947 | Rapid Detection of Common Southeast Asian β -Thalassemia Mutations by Nonisotopic Multiplex PCR-SSCP Analysis |
Q59189350 | Rapid Detection of the Hypertension-Associated A1166C Polymorphism of the Angiotensin II Type 1 Receptor (AGTR1) |
Q87137910 | Rapid Detection of the Three Celiac Disease Risk Genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 by Multiplex Ligation-Dependent Probe Amplification |
Q73338762 | Rapid F508del and F508C assay using fluorescent hybridization probes |
Q54404323 | Rapid Identification of Common β-Thalassemia Mutations in the Chinese Population Using Duplex or Triplex Amplicon Genotyping by High-Resolution Melting Analysis |
Q54394302 | Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene. |
Q79662920 | Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy |
Q54794304 | Rapid and robust screening of the Menkes disease/occipital horn syndrome gene. |
Q44254571 | Rapid automated simultaneous screening of (G1691A) Factor V, (G20210A) prothrombin, and (C677T) methylenetetrahydrofolate reductase variants by multiplex PCR using fluorescence scanning technology. |
Q80521260 | Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes |
Q73742300 | Rapid confirmation of previously detected prenatal mosaicism by fluorescence in situ hybridization in interphase uncultured amniocytes |
Q54323915 | Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. |
Q47998906 | Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin |
Q80603308 | Rapid detection of sex chromosomal aneuploidies by QF-PCR: application in 200 men with severe oligozoospermia or azoospermia |
Q48001009 | Rapid detection of the 46C --> T polymorphism in the factor XII gene, a novel genetic risk factor for thrombosis, by melting peak analysis using fluorescence hybridization probes |
Q34109123 | Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay |
Q45229199 | Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. |
Q44511844 | Rapid molecular diagnosis of genetic diseases by high resolution melting analysis: fabry and glycogen storage 1A diseases |
Q46203726 | Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay |
Q73356689 | Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China |
Q54232497 | Rapid prenatal diagnosis of common numerical chromosomal abnormalities by high-resolution melting analysis of segmental duplications. |
Q47355694 | Rapid prenatal testing for human beta-glucuronidase deficiency (MPS VII). |
Q90120788 | Re: "Association Between the CYP4F2 Gene rs1558139 and rs2108622 Polymorphisms and Hypertension: A Meta-Analysis" by Geng et al. (Genet Test Mol Biomarkers 2019;23:342-347; DOI: 10.1089/gtmb.2018.0202) |
Q46631081 | Re: Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children (From: Silver AJ, Larson JL, Silver MJ, et al. Genet Test Mol Biomarkers 2016;20:276-284). |
Q87430545 | Receipt of genetic counseling recommendations among black women at high risk for BRCA mutations |
Q84076777 | Recommendations of the European society of human genetics on genetic testing for common disorders |
Q38438418 | Recovery of genomic DNA from residual frozen archival blood clots suitable for amplification and use in genotyping assays |
Q46313583 | Recruitment of black women for a study of inherited breast cancer using a cancer registry-based approach |
Q82091502 | Recruitment, genetic counseling, and BRCA testing for underserved women at a public hospital |
Q50437309 | Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. |
Q82309731 | Recurrent pregnancy loss and its relation to combined parental thrombophilic gene mutations |
Q43489206 | Referral and experience with genetic testing among women with early onset breast cancer |
Q56908407 | Reflections on the European Conference "Molecular Screening of Individuals at High Risk for Developing Cancer: Medical, Ethical, Legal, and Social Issues" |
Q38166799 | Reforming biobank consent policy: a necessary move away from broad consent toward dynamic consent |
Q33697325 | Registry of genetic tests: a critical stepping stone to improving the genetic testing system |
Q83323835 | Regulating genetic tests: issues that guide policy decisions |
Q47962222 | Relationship Between C-Reactive Protein Serum Concentration and the 1846 C>T (rs1205) Polymorphism in Patients with Acute Coronary Syndrome from Western Mexico |
Q91821064 | Relationship Between Genetic Polymorphisms of the TNF Gene and Hallux Valgus Susceptibility |
Q90091266 | Relationship Between Heat Shock Protein Expression and Obesity With and Without Metabolic Syndrome |
Q46610567 | Relationship Between RANK and RANKL Gene Polymorphisms with Osteoporosis in Rheumatoid Arthritis Patients |
Q53125605 | Relationship between genomic damage and clinical features in dialysis patients. |
Q36092742 | Relationship between leptin G2548A and leptin receptor Q223R gene polymorphisms and obesity and metabolic syndrome risk in Tunisian volunteers |
Q40229718 | Relationship between response to colchicine treatment and MDR1 polymorphism in familial Mediterranean fever patients |
Q39881357 | Relationship between the angiotensin I-converting enzyme insertion/deletion (I/D) polymorphism and cardiovascular risk factors in healthy young Mexican women. |
Q61813287 | Relationship of Genetic Variation in the Serotonin Transporter Gene (SLC6A4) and Congenital and Acquired Cardiovascular Diseases |
Q87417417 | Relationship of PTTG expression with tumor invasiveness and microvessel density of pituitary adenomas: a meta-analysis |
Q44046504 | Relationship of SREBP-2 rs2228314 G>C polymorphism with nonalcoholic fatty liver disease in a Han Chinese population |
Q93236045 | Relationship of WNT4 Gene with the Risk of Epithelial Ovarian Cancer: A Han Chinese Population-Based Association Study |
Q45005763 | Reliable and high-throughput mutation screening for beta-thalassemia by a single-base extension/fluorescence polarization assay |
Q54394307 | Repeat-primed polymerase chain reaction in myotonic dystrophy type 2 testing. |
Q52685162 | Replication Study Confirms the Association of the Common rs1800629 Variant of the TNFα Gene with Postmenopausal Osteoporosis Susceptibility in the Han Chinese Population. |
Q57797069 | Report of Confirmation of the rs7853758 and rs885004 Haplotype in SLC28A3 |
Q50069495 | Research for the People by the People |
Q34405755 | Researcher Practices on Returning Genetic Research Results |
Q36041697 | Researcher and institutional review board chair perspectives on incidental findings in genomic research |
Q90120784 | Response to Gholami and Mohammad Amoli: Re: Association Between the CYP4F2 Gene rs1558139 and rs2108622 Polymorphisms and Hypertension: A Meta-Analysis by Geng et al.(Genet Test Mol Biomarkers 2019;23:342-347; DOI: 10.1089/gtmb.2018.0202) |
Q33162716 | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory |
Q50496046 | Reticulocyte hemoglobin content and iron deficiency: a retrospective study in adults. |
Q87340583 | Retraction of Chen et al. (2012) 16:952-956; DOI: 10.1089/gmtb.2012.0033 |
Q39001950 | Return of Research Results in the Saudi Biobank: An Exploratory Survey. |
Q39113616 | Returning Results in Biobank Research: Global Trends and Solutions. |
Q42968231 | Returning Results: Let's Be Honest! |
Q90998686 | Reuniting Families Using Genetic Testing? |
Q40534023 | Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever |
Q40056777 | Rising Concern Regarding Pregnant Women and Zika Virus |
Q40620952 | Risk Factors for Hepatocellular Carcinoma in Cirrhotic Patients with Chronic Hepatitis B. |
Q36108970 | Risk assessment for inherited susceptibility to cancer: a review of the psychosocial and ethical dimensions |
Q97565506 | Risk of Nasopharyngeal Carcinoma Associated with Single Nucleotide Polymorphisms in the MicroRNA Binding Site of SGK3 |
Q46476680 | Risk of myocardial infarction related to factor V Leiden mutation: a meta-analysis |
Q31107500 | Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients |
Q36879101 | Risk reduction and health promotion behaviors following genetic testing for adult-onset disorders |
Q84925235 | Risky business: the need for hypothesis-generating research |
Q78684508 | Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations |
Q57732455 | Robust, Easy, and Dose-Sensitive Methylation Test for the Diagnosis of Prader–Willi and Angelman Syndromes |
Q51364972 | Role of -675 4G/5G in the plasminogen activator inhibitor-1 gene and -308G/A tumor necrosis factor-α gene polymorphisms in obese Argentinean patients. |
Q47672925 | Role of Cytokine Gene Score in Risk Prediction of Premature Coronary Artery Disease |
Q44237681 | Role of HLA class II loci polymorphism in the manifestation of type 1 diabetes in a Bengali Indian patient population |
Q54184572 | Role of IFN-γ and IL-6 cytokines and their association in determining susceptibility to chronic idiopathic urticaria. |
Q35132718 | Role of MDM2 T309G polymorphism in susceptibility and prognosis of nonsmall cell lung cancer: a meta-analysis |
Q54329733 | Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on anti-epileptic drug (phenytoin) absorption. |
Q39916710 | Role of PALB2 Polymorphisms with Regard to Susceptibility to Female Breast Cancer Risk in the Chinese Population |
Q35130495 | Role of RASSF1A promoter methylation in the pathogenesis of ovarian cancer: a meta-analysis |
Q40658114 | Role of SEP15 Gene Polymorphisms in the Time of Progression to AIDS. |
Q51697492 | Role of UMOD Promoter Polymorphism in the Etiology of Preeclampsia. |
Q92816471 | Role of VDR, GC, and CYP2R1 Polymorphisms in the Development of Hepatocellular Carcinoma in Hepatitis C Virus-Infected Patients |
Q92864091 | Role of Vitamin D Receptor Gene Polymorphisms on the Susceptibility to Periodontitis: A Meta-Analysis of a Controversial Issue |
Q39985354 | Role of glutathione-S-transferase P1 hypermethylation in molecular detection of prostate cancer |
Q50893251 | Role of the Polymorphisms of Uncoupling Protein Genes in Childhood Obesity and Their Association with Obesity-Related Disturbances. |
Q50436939 | Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss. |
Q51654633 | Roles of Cell Cyle Regulators Cyclin D1, CDK4, and p53 in Knee Osteoarthritis. |
Q39966489 | Roles of XRCC1/XPD/ERCC1 Polymorphisms in Predicting Prognosis of Hepatocellular Carcinoma in Patients Receiving Transcatheter Arterial Chemoembolization |
Q37686218 | Roles of three common VEGF polymorphisms in the risk of age-related macular degeneration |
Q45837764 | S100A4 is an independent prognostic factor for patients with lung cancer: a meta-analysis |
Q54155781 | SNCA rs3822086 C>T Polymorphism Increases the Susceptibility to Parkinson's Disease in a Chinese Han Population. |
Q51525721 | SNP rs1805874 of the Calbindin1 Gene Is Associated with Parkinson's Disease in Han Chinese. |
Q34296576 | SNaPshot Assay in Quantitative Detection of Allelic Nondisjunction in Down Syndrome |
Q47998897 | STAT4 is not associated with type 2 diabetes in the genetically homogeneous population of Crete |
Q50100102 | STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population |
Q35222875 | SUMO1 genetic polymorphisms may contribute to the risk of nonsyndromic cleft lip with or without palate: a meta-analysis. |
Q100380495 | Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel |
Q33721350 | Screening Jews and genes: a consideration of the ethics of genetic screening within the Jewish community: challenges and responses |
Q47999006 | Screening NKX2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases |
Q96770297 | Screening and Identification of Key Biomarkers in Inflammatory Breast Cancer Through Integrated Bioinformatic Analyses |
Q37277686 | Screening biomarkers of prostate cancer by integrating microRNA and mRNA microarrays |
Q35180500 | Screening for AZFc partial deletions in Dravidian men with nonobstructive azoospermia and oligozoospermia |
Q34703857 | Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography. |
Q54560287 | Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography. |
Q79327680 | Screening for DMD/BMD deletion carriers by fluorescence in situ hybridization |
Q90015881 | Screening for Differentially Expressed Circular RNAs in the Cartilage of Osteoarthritis Patients for Their Diagnostic Value |
Q45289107 | Screening for FXTAS in 95 Spanish patients negative for Huntington disease |
Q59416411 | Screening for Familial Mediterranean Fever M694V and V726A Mutations in the Greek Population |
Q36026620 | Screening for an inherited susceptibility to colorectal cancer |
Q73717898 | Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews |
Q79671619 | Screening for hemochromatosis and iron overload: satisfaction with results notification and understanding of mailed results in unaffected participants of the HEIRS study |
Q74210343 | Screening for hemochromatosis in routine medical care: an evaluation of mean corpuscular volume and mean corpuscular hemoglobin |
Q51996103 | Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography. |
Q50442946 | Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplification. |
Q81347879 | Screening of 12 SNPs of CYP3A4 in a Chinese population using oligonucleotide microarray |
Q50435710 | Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. |
Q50544756 | Screening of 99 Danish patients with congenital heart disease for GATA4 mutations. |
Q93264773 | Screening of AIP Gene Variations in a Cohort of Turkish Patients with Young-Onset Sporadic Hormone-Secreting Pituitary Adenomas |
Q58923925 | Screening of EDA1 Gene in X-Linked Anhidrotic Ectodermal Dysplasia Using DHPLC: Identification of 14 Novel Mutations in Italian Patients |
Q50352550 | Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment. |
Q53631899 | Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. |
Q51597421 | Screening of Variations in CD22 Gene in Children with B-Precursor Acute Lymphoblastic Leukemia. |
Q42982157 | Screening of hepatitis C virus genotypes in urticaria patients in Saudi Arabia |
Q38900776 | Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus |
Q50445856 | Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes. |
Q39791277 | Screening of three novel candidate genes in arrhythmogenic right ventricular cardiomyopathy |
Q51290619 | Search for Genetic Variant in the Apelin Gene by Resequencing and Association Study in European Subjects. |
Q51892021 | Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndrome. |
Q50433419 | Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique. |
Q90625763 | Semen Quality is Associated with Sperm Aneuploidy and DNA Fragmentation in the United Arab Emirates Population |
Q46030527 | Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting. |
Q73834621 | Sensitivity and specificity of denaturing high-pressure liquid chromatography for unknown protein C gene mutations |
Q73742278 | Sensitivity of multiple color spectral karyotyping in detecting small interchromosomal rearrangements |
Q98229128 | Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation |
Q87310332 | Sequence Variants of SIRT6 Gene Promoter in Myocardial Infarction |
Q43757766 | Sequence variation of the methylene tetrahydrofolate reductase gene (677C>T and 1298 A>C) and traditional risk factors in a South Indian population |
Q54644160 | Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients. |
Q85052331 | Serotonin receptor 2A -1438G/A promoter polymorphism in relation to obesity and response to sibutramine |
Q38149241 | Serotonin transporter (5-HTT) gene polymorphisms and susceptibility to epilepsy: a meta-analysis and meta-regression |
Q46615025 | Serotonin transporter gene polymorphisms and sertraline response in major depression patients |
Q44786474 | Serotoninergic polymorphisms (5-HTTLPR and 5-HT2A): association studies with psychosis in Alzheimer disease. |
Q92366475 | Serum Human Epididymis Protein 4 Combined with Carbohydrate Antigen 125 for Endometrial Carcinoma Diagnosis: A Meta-Analysis and Systematic Review |
Q97676509 | Serum Level and Gene Expression of Interleukin-15 Do Not Correlate with Villous Atrophy in Celiac Disease Patients |
Q51284763 | Serum Markers of Endothelial Dysfunction and Inflammation Increase in Hypertension with Prediabetes Mellitus. |
Q38868124 | Serum Parathyroid Hormone Levels Predict Discharge and Readmission for Heart Failure |
Q89291135 | Serum Salusin-β Levels Are Correlated with Slow Coronary Flow |
Q87210219 | Serum and Vitreous Pentraxin 3 Concentrations in Patients with Diabetic Retinopathy |
Q86529079 | Serum endocan levels are correlated with the presence and severity of coronary artery disease in patients with hypertension |
Q53383286 | Serum macrophage migration inhibitory factor levels are associated with angiographically complex coronary lesions in patients with coronary artery disease. |
Q43849774 | Serum mannose-binding lectin and C-reactive protein are potential biomarkers for patients with community-acquired pneumonia |
Q92871862 | Serum miR-210-3p as a Potential Noninvasive Biomarker of Lung Adenocarcinoma: A Preliminary Study |
Q90682611 | Serum miR-638 Combined with Squamous Cell Carcinoma-Related Antigen as Potential Screening Biomarkers for Cervical Squamous Cell Carcinoma |
Q46115003 | Serum neural cell adhesion molecule is hyposialylated in hereditary inclusion body myopathy |
Q85257508 | Serum parathyroid hormone as a potential novel biomarker of coronary heart disease |
Q35608593 | Serum sLOX-1 Levels Are Correlated with the Presence and Severity of Obstructive Sleep Apnea |
Q89291851 | Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes |
Q42635022 | Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level |
Q57003014 | Sex chromosome analysis in Turner Syndrome by a pentaplex PCR assay |
Q42680796 | Sharing clinical research data: perspectives on an IOM workshop |
Q30790940 | Sharing your thoughts about sharing clinical trial data |
Q48378777 | Should individuals be informed about their salt sensitivity status? First indications of the value of testing for genetic predisposition to low-risk conditions |
Q28190279 | Sialic acid storage disease and related disorders |
Q37610146 | Significance of genome-wide association studies in molecular anthropology |
Q87373190 | Significant association between MTHFR C677T polymorphism and thyroid cancer risk: evidence from a meta-analysis |
Q87070065 | Significant associations between the A163G and G1181C polymorphisms of the osteoprotegerin gene and risk of osteoporosis, especially in postmenopausal women: a meta-analysis |
Q47437108 | Significant genetic differentiation within the population of the Island of Corsica (France) revealed by y-chromosome analysis |
Q84563826 | Silence is not always golden |
Q54432488 | Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. |
Q54168383 | Simple Method to Genotype the ACTN3 r577x Polymorphism. |
Q51953506 | Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes. |
Q45301629 | Simple procedure for automatic detection of unstable alleles in the myotonic dystrophy and Huntington's disease loci |
Q78178532 | Simultaneous detection of five mutations in the steroid 21-hydroxylase gene using nested allele-specific amplification |
Q39835401 | Simultaneous detection of multiple single-nucleotide polymorphisms by a simple membrane chip. |
Q49935275 | Single Nucleotide Polymorphisms in Key One-Carbon Metabolism Genes and Their Association with Blood Folate and Homocysteine Levels in a Chinese Population in Yunnan |
Q44038757 | Single Nucleotide Polymorphisms in the PTPN1 Gene Are Associated with Susceptibility to Esophageal Squamous Cell Carcinoma: A Case-Control Study in Inner Mongolia, China |
Q40526408 | Single-Nucleotide Polymorphism rs17611 of Complement Component 5 Shows Association with Ischemic Stroke in Northeast Chinese Population |
Q54401144 | Single-Nucleotide Polymorphisms ofNKX2.5Found in Congenital Heart Disease Patients of Mysore, South India |
Q36225257 | Single-nucleotide polymorphism at CYP27B1-1260, but not VDR Taq I, is possibly associated with persistent hepatitis B virus infection |
Q42693073 | Single-nucleotide polymorphisms and haplotype analysis in beta-defensin genes in different ethnic populations |
Q84658843 | Single-nucleotide polymorphisms in genes encoding toll-like receptor -2, -3, -4, and -9 in case-control study with breast cancer |
Q48268947 | Site-directed mutagenesis of exon 5 of p53: purification, analysis, and validation of amplicons for DHPLC. |
Q46673434 | Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease |
Q92509165 | Skin Autofluorescence Is Associated with Diabetic Peripheral Neuropathy in Chinese Patients with Type 2 Diabetes: A Cross-Sectional Study |
Q46974315 | Slovenian five-year experiences with rapid prenatal diagnosis of common chromosome aneuploidies using quantitative-fluorescence polymerase chain reaction |
Q47717848 | Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene |
Q92071878 | So What Does That Test Result Mean? Genetic Counselors in the Trenches |
Q43808548 | Social stratification in the Sikh population of Punjab (India) has a genetic basis: evidence from serological and biochemical markers |
Q53230122 | Special issues in genetic testing for Alzheimer disease. |
Q44025037 | Species identification through DNA "barcodes". |
Q117709717 | Species-Level Profiling of Ixodes pacificus Bacterial Microbiomes Reveals High Variability Across Short Spatial Scales at Different Taxonomic Resolutions |
Q46534568 | Specific triplex binding capacity of mixed base sequence duplex nucleic acids used for single-nucleotide polymorphism detection |
Q33783827 | Spectrum of CFTR gene mutations in Iranian Azeri Turkish patients with cystic fibrosis. |
Q46132345 | Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia |
Q74613701 | Spectrum of MECP2 mutations in Rett syndrome |
Q39097541 | Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients |
Q40443503 | Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis |
Q77480350 | Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations |
Q39195842 | Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns |
Q43542914 | Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper |
Q34976105 | Spondylocostal dysostosis associated with methylmalonic aciduria |
Q44487291 | Standardization of methods reduces variability: explanation for historical discrepancies in biochemical screening |
Q39660358 | Standardized Centile Curves and Reference Intervals of Serum Thymidine Kinase 1 Levels in a Normal Chinese Population Using the LMS Method |
Q84042716 | Standards for personalized medicine |
Q48297930 | Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. |
Q45948882 | Stress, COMT Polymorphisms, and Depressive Symptoms in Older Australian Women: An Exploratory Study. |
Q40603446 | Study of the mutation M694V of familial Mediterranean fever in Jews |
Q38488510 | Study on key genes and regulatory networks associated with osteoporosis by microarray technology |
Q50636926 | Subclinical psychotic experiences in healthy young adults: associations with stress and genetic predisposition. |
Q80521234 | Subjective and objective risk of breast cancer in Ashkenazi Jewish individuals at risk for BRCA1/2 mutations |
Q87385240 | Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations |
Q38655233 | Support for "Disease-Only" Genotypes and Excess of Homozygosity at the CYTH4 Primate-Specific GTTT-Repeat in Schizophrenia |
Q45862398 | Support for the availability of prenatal testing for neurological and psychiatric conditions in the psychiatric community |
Q33721250 | Surrogate decision making for genetic testing for Alzheimer disease |
Q85514404 | Survivin gene polymorphism association with tongue squamous cell carcinoma |
Q51102753 | Susceptiveness of Vitamin K epOxide Reductase Complex Subunit 1 Gene Polymorphism in Essential Hypertension. |
Q50222505 | Synergistic Association of Genetic Variants with Environmental Risk Factors in Susceptibility to Essential Hypertension. |
Q83387384 | Synergistic cytogenetic and antineoplastic effects by the combined action of esteric steroidal derivatives of nitrogen mustards |
Q51932087 | Systematic analysis of sequence variability of the endothelin-1 gene: a prerequisite for association studies. |
Q46740025 | T594M mutation of the beta-subunit of the epithelial sodium channel in Ghanaian populations from Kumasi and London and a possible association with hypertension |
Q50770648 | TCF21 rs12190287 Polymorphisms Are Associated with Ventricular Septal Defects in a Chinese Population. |
Q37398190 | TERT genetic polymorphism rs2736100 was associated with lung cancer: a meta-analysis based on 14,492 subjects |
Q51678668 | TGFBI Gene Mutation Analysis in Chinese Families with Corneal Dystrophies. |
Q57163912 | TGFα/HinfI Polymorphisms Contribute to Nonsyndromic Cleft Lip and Palate in Turkish Patients |
Q38132845 | TLR-2 gene polymorphisms and susceptibility to cancer: evidence from meta-analysis |
Q50577729 | TPOX Triallelic Genotype: An Interesting Pattern to Be Noted in Bone Marrow Transplantation Monitoring. |
Q92119543 | TSC1 and TSC2 Gene Mutations in Chinese Tuberous Sclerosis Complex Patients Clinically Characterized by Epilepsy |
Q100308260 | Tacrolimus Starting Dose Prediction Based on Genetic Polymorphisms and Clinical Factors in Chinese Renal Transplant Recipients |
Q89342895 | Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa |
Q50100095 | Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa. |
Q50044686 | Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa |
Q39407688 | Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss |
Q51892370 | Targeted extended cystic fibrosis mutation testing on known and at-risk patients and relatives. |
Q37649360 | Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population |
Q54157910 | Tay-Sachs disease carrier screening: a 21-year experience. |
Q33721281 | Tay-Sachs disease carrier screening: a model for prevention of genetic disease |
Q78178612 | Technical pitfalls encountered in PCR quantification using microsatellites |
Q33914883 | Technical, genetic, and ethical issues in screening and testing of African-Americans for hemochromatosis |
Q80974245 | Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: rationale and development of a randomized controlled trial |
Q41185856 | Telomerase Reverse Transcriptase (TERT) Gene Variations and Susceptibility of Colorectal Cancer |
Q58440082 | Telomere Shortening: A Biological Marker of Sporadic Colorectal Cancer with Normal Expression of p53 and Mismatch Repair Proteins |
Q41655633 | Telomere length measurement on the Roche LightCycler 480 Platform |
Q85929946 | Test now, share now |
Q38217277 | Test performance of sputum microRNAs for lung cancer: a meta-analysis |
Q80062514 | Testing and reporting ACMG cystic fibrosis mutation panel results |
Q84194662 | Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome |
Q79348541 | Testing participation in BRCA1/2-positive families: initiator role of index cases |
Q39976633 | Testing the children: do non-genetic health-care providers differ in their decision to advise genetic presymptomatic testing on minors? A cross-sectional study in five countries in the European Union. |
Q90656961 | The -174G>C and -596G>A Polymorphisms Are Not Associated with Circulating IL-6 Levels in Breast Cancer Patients from Jalisco, México |
Q78178583 | The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients |
Q47278468 | The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece |
Q78178743 | The 677C > T mutation in 5,10-methylenetetrahydrofolate reductase and colorectal cancer risk |
Q104129543 | The SELS rs34713741 Polymorphism Is Associated with Susceptibility to Colorectal Cancer and Gastric Cancer: A Meta-Analysis |
Q85937715 | The ADAM33 S2 polymorphism is associated with susceptibility to pediatric asthma in the Chinese Han population |
Q34330986 | The AmpliChip® CYP450 test and response to treatment in schizophrenia and obsessive compulsive disorder: a pilot study and focus on cases with abnormal CYP2D6 drug metabolism |
Q46534573 | The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village |
Q91821026 | The Association Between AXIN2 Gene Polymorphisms and the Risk of Breast Cancer in Chinese Women |
Q38371592 | The Association Between MGMT Promoter Methylation and Patients with Gastric Cancer: A Meta-Analysis |
Q91629214 | The Association Between VDR and GC Polymorphisms and Lung Cancer Risk: A Systematic Review and Meta-Analysis |
Q50198879 | The Association Between XPG Gene Polymorphism and Gastric Cancer Risk. |
Q92366470 | The Association Between hMLH1 and hMSH2 Polymorphisms and Renal Tumors in Northeastern China |
Q50137845 | The Association Between the FTO rs9939609 Variant and Malignant Pleural Mesothelioma Risk: A Case-Control Study |
Q92274964 | The Association Between the Tumor Necrosis Factor-Alpha Gene -308A/G Polymorphism and Chronic Pancreatitis: A Meta-Analysis |
Q51597328 | The Associations of IL-6, IFN-γ, TNF-α, IL-10, and TGF-β1 Functional Variants with Acute Myeloid Leukemia in Turkish Patients. |
Q47909594 | The BRCA1 3'-UTR: 5711+421T/T_5711+1286T/T genotype is a possible breast and ovarian cancer risk factor |
Q45246888 | The BsmI vitamin D receptor gene polymorphism is associated with ulcerative colitis in Jewish Ashkenazi patients |
Q92450809 | The CAV1 Gene 3' Untranslated Region Single Nucleotide Polymorphisms Are Associated with the Risk of Pulmonary Hypertension in Chinese Han Chronic Obstructive Pulmonary Patients |
Q47922397 | The CD14 rs2569190 TT Genotype is Associated with Chronic Periodontitis |
Q47433933 | The CFTR M470V gene variant as a potential modifier of COPD severity: study of Serbian population |
Q98229135 | The Circular RNA CDR1as Regulates the Proliferation and Apoptosis of Human Cardiomyocytes Through the miR-135a/HMOX1 and miR-135b/HMOX1 Axes |
Q40713101 | The Contributions of Thrombophilic Mutations to Genetic Susceptibility to Deep Venous Thrombosis in Iraqi Patients |
Q128955389 | The Correlation Between Clinical Phenotype and Genotype of Hereditary Spherocytosis |
Q91420229 | The Counselor Will Videoconference You Now: Addressing Opportunities and Challenges with Patient-Clinician Communication in the Telemedicine Era |
Q92658084 | The Cystic Fibrosis Transmembrane Conductance Regulator 470 Met Allele Is Associated with an Increased Risk of Chronic Pancreatitis in Both Asian and Caucasian Populations: A Meta-Analysis |
Q81641480 | The DLC-1 -29A/T polymorphism is not associated with nasopharyngeal carcinoma risk in Chinese population |
Q45934571 | The Day the President of the United States Said "That Data is Mine". |
Q53202428 | The Detection of Genetic Parameters for Prognostic Stratification of Neuroblastoma Using Multiplex Ligation-Dependent Probe Amplification Technique. |
Q92982995 | The Effect of AMBP SNPs, Their Haplotypes, and Gene-Environment Interactions on the Risk of Atherothrombotic Stroke Among the Chinese Population |
Q92816456 | The Effect of Angiotensin-Converting Enzyme Gene Polymorphisms on the Clinical Efficacy of Perindopril Prescribed for Acute Myocardial Infarction in Chinese Han Patients |
Q57995105 | The Effect of Direct-to-Consumer Genetic Tests on Anticipated Affect and Health-Seeking Behaviors: A Pilot Survey |
Q39723420 | The Effect of the CYP1A1*2A Allele on Colorectal Cancer Susceptibility in a British Population. |
Q114939675 | The Effect of the Kirsten Rat Sarcoma Viral Oncogene Homolog (Kras) Proto-Oncogene, GTPase Genetic Polymorphism on the Safety and Efficacy of Bevacizumab Combination Treatment Regimens for Patients with Nonsquamous, Non-Small Cell Lung Cancer |
Q45016292 | The Equal Employment Opportunity Commission proposal and the Genetic Information Nondiscrimination Act. |
Q91953397 | The Expression of MBD6 Is Associated with Tumor Size in Uterine Leiomyomas |
Q90463409 | The First Molecular Screening of MLH1 and MSH2 Genes in Moroccan Colorectal Cancer Patients Shows a Relatively High Mutational Prevalence |
Q36367700 | The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome |
Q41199880 | The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population |
Q94554430 | The Frequency of the Minor Polymorphisms in the CYP2C19, VEGFR-2 Genes, and Clinical Outcomes in Russian and Buryat Patients with Acute Coronary Syndrome |
Q92450814 | The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population |
Q88783755 | The Future Is Today |
Q96581571 | The GCAG Haplotype of the CRHBP Gene May Decrease the Risk for Robbery Behavior Among the Han Chinese |
Q59202059 | The Genetic Associations and Epistatic Effects of the CCR5 Promoter and CCR2-V64I Polymorphisms on Susceptibility to HIV-1 Infection in a Northern Han Chinese Population |
Q28087697 | The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations |
Q57808064 | The Genetic Determination of the Differentiation Between Ischemic Dilated Cardiomyopathy and Idiopathic Dilated Cardiomyopathy |
Q93925647 | The Genetic Knowledge Index: developing a standard measure of genetic knowledge |
Q87772408 | The Genome Editing Report of the National Academy of Sciences and the National Academy of Medicine |
Q38368759 | The Half-Life of Serum Thymidine Kinase 1 Concentration Is an Important Tool for Monitoring Surgical Response in Patients with Lung Cancer: A Meta-Analysis |
Q39459951 | The I1307K APC polymorphism: prevalence in non-Ashkenazi Jews and evidence for a founder effect |
Q91247555 | The Impact of Variants in Genes Associated with Estradiol Synthesis on Hormone Levels and Oocyte Retrieval in Patients Who Underwent Controlled Ovarian Hyperstimulation |
Q92366457 | The Impact of Vitamin D Receptor Gene Polymorphisms on the Susceptibility of Diabetic Vascular Complications: A Meta-Analysis |
Q57301925 | The Influence of Experiential Knowledge on Prenatal Screening and Testing Decisions |
Q38987165 | The Influence of Polymorphisms of Interleukin-17A and -17F Genes on Susceptibility and Activity of Rheumatoid Arthritis |
Q48571358 | The International Rare Diseases Research Consortium Announces New Vision and Goals |
Q57286903 | The Italian External Quality Assessment Scheme for Fragile X Syndrome: The Results of a 5-Year Survey |
Q39903007 | The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience |
Q39992975 | The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey |
Q38679881 | The KSR2-rs7973260 Polymorphism is Associated with Metabolic Phenotypes, but Not Psychological Phenotypes, in Chinese Elders |
Q46494104 | The LRRK2 gene is mutated in a Chinese autosomal-dominant Parkinson's disease family |
Q50492723 | The M34T allele variant of connexin 26. |
Q40827776 | The MCP-1 Gene A-2518G Polymorphism Confers an Increased Risk of Vascular Complications in Type 2 Diabetes Mellitus Patients |
Q92486533 | The Neuropeptide Vasoactive Intestinal Peptide Levels in Serum are Inversely Related to Disease Severity of Postmenopausal Osteoporosis: A Cross-Sectional Study |
Q90412724 | The Nonsynonymous Polymorphisms Val276Met and Gly393Ser of E2F1 Gene are Strongly Associated with Lung, and Head and Neck Cancers |
Q38126083 | The OGG1 Ser326Cys polymorphism and the risk of esophageal cancer: a meta-analysis |
Q50347038 | The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family. |
Q33721331 | The Oncormed approach to genetic testing |
Q39194702 | The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews. |
Q54635196 | The Paradox of Dickkopf-1: Tumor Suppressor and Tumor Enhancer. |
Q48090111 | The Paraoxonase 1 Gene c.-108C>T SNP in the Promoter Is Associated with Risk for Glioma in Mexican Patients, but Not the p.L55M or p.Q192R Polymorphisms in the Coding Region. |
Q92366450 | The Percentage of Anaplastic Lymphoma Kinase-Positive Tumor Cells Has Clinical Implications for Patients with Non-Small Cell Lung Cancer |
Q90314385 | The Price of Precision: Genetic Testing and Drug Costs in America |
Q50026981 | The Prognostic Value of Combinations of Genetic Polymorphisms in the ITGB3, ITGA2, and CYP2C19*2 Genes in Predicting Cardiovascular Outcomes After Coronary Bypass Grafting |
Q85556383 | The Protective Effects of the VEGF -2578C>A and -1154G>A Polymorphisms Against Hypertension Susceptibility |
Q34112150 | The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease |
Q38453729 | The READIT assay as a method for genotyping NAT1*10 polymorphisms |
Q87270543 | The Relationship Between Endothelial Nitric Oxide Synthase Gene (NOS3) Polymorphisms, NOS3 Expression, and Varicocele |
Q51495629 | The Relationship Between Glutathione S-Transferase-P1 and Beta-2 Adrenoreceptor Genotypes with Asthmatic Patients in the Turkish Population. |
Q40992885 | The Relationship Between Killer Cell Immunoglobulin-Like Receptors and HLA-C Polymorphisms in Colorectal Cancer in a Saudi Population. |
Q95926528 | The Relationship of Single Nucleotide Polymorphisms in the TRPV1 Gene with Lipid Profile, Glucose, and Blood Pressure in Mexican Population |
Q93098006 | The Rise of Noninvasive Diagnostic Technologies |
Q92080719 | The Role of CADM1 and MAL Promoter Methylation in Inflammation and Cervical Intraepithelial Neoplasia |
Q54237900 | The Role of Dermcidin in the Diagnosis and Staging of Hepatocellular Carcinoma. |
Q88783760 | The Role of Interleukin-31 Polymorphisms in Non-Small Cell Lung Cancer Genetic Susceptibility and Clinical Outcome |
Q90363708 | The Role of Patient Advocacy During a Time of Surprise Billing |
Q34211497 | The Role of Plasminogen Activator Inhibitor-1 and Angiotensin-Converting Enzyme Gene Polymorphisms in Bronchopulmonary Dysplasia |
Q40145474 | The SDF1 A/G Gene Variant: A Susceptibility Variant for Myocardial Infarction |
Q49030120 | The Sensitive Detection of Telomerase Reverse Transcriptase Promoter Mutation by Amplification Refractory Mutation System-PCR. |
Q49342571 | The Synergistic Effect of TNFA and IL10 Promoter Polymorphisms on Genetic Predisposition to Systemic Lupus Erythematosus. |
Q51624075 | The T Allele of MTHFR c.C677T and Its Synergism with G (Val 158) Allele of COMT c.G472A Polymorphism Are Associated with the Risk of Bipolar I Disorder. |
Q104129546 | The T-182C Polymorphism Enhances Promoter Activity of the Norepinephrine Transporter Gene, but may not be Associated with Antidepressant Response |
Q57417721 | The TDI-FP Assay in Human Y Chromosome SNP Haplotyping |
Q90588163 | The TERT rs2736100 Polymorphism and Susceptibility to Myeloproliferative Neoplasms: A Systematic Review and Meta-Analysis |
Q61850730 | The VNTR Polymorphism in the Human Dopamine Transporter Gene: Improved Detection and Absence of Association of VNTR Alleles with Attention-Deficit Hyperactivity Disorder |
Q48100695 | The Western Australian family connections genealogical project: detection of familial occurrences of single gene and chromosomal disorders |
Q34124912 | The actin-cytoskeleton pathway and its potential role in inflammatory bowel disease-associated human colorectal cancer. |
Q43265111 | The analysis of the relationship between A1298C and C677T polymorphisms of the MTHFR gene with prostate cancer in Eskisehir population |
Q86139991 | The answers in our blood: finding new uses for a prenatal test in oncology |
Q34112112 | The apolipoprotein E gene and Taq1A polymorphisms in childhood obesity |
Q33721245 | The application of medical decision analysis to genetic testing: an introduction |
Q43726384 | The association between a common FCGR2A polymorphism and C-reactive protein and coronary artery disease revisited |
Q54274858 | The association between development and progression of multinodular goiter and thyroid-stimulating hormone receptor gene D727E and P52T polymorphisms. |
Q43885676 | The association between heterozygosity for UGT1A1*6, UGT1A1*28, and variation in the serum total-bilirubin level in healthy young Japanese adults |
Q36308174 | The association between levels of tissue inhibitor of metalloproteinase-1 with acute heart failure and left ventricular dysfunction in patients with ST elevation myocardial infarction treated by primary percutaneous coronary intervention |
Q41615143 | The association between serum ApoE genetic polymorphism and serum lipid level in hemodialysis patients |
Q41635703 | The association of MDM2 c.346G>A genetic variant with the risk of osteosarcoma in Chinese |
Q54459910 | The association of MMP-9 enzyme activity, MMP-9 C1562T polymorphism, and MMP-2 and -9 and TIMP-1, -2, -3, and -4 gene expression in lung cancer. |
Q46077321 | The association of methylation in the promoter of APC and MGMT and the prognosis of Taiwanese CRC patients. |
Q34779790 | The association of the MTHFR c.1625A>C genetic variant with the risk of congenital heart diseases in the Chinese |
Q51344571 | The c.553G>T Genetic Variant of the APOA5 Gene and Altered Triglyceride Levels in the Asian Population: A Meta-Analysis of Case-Control Studies. |
Q38005456 | The challenges of incorporating genetic testing in the unified national health system in Brazil |
Q46734099 | The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians |
Q39141183 | The contribution of the genetic variations of the matrix metalloproteinase-1 gene to the genetic susceptibility of gastric cancer |
Q30903903 | The controversial p.Arg127His mutation in GJB2: report on three Portuguese hearing loss family cases |
Q38937348 | The cyclooxygenase-1 C50T polymorphism is not associated with aspirin responsiveness status in stable coronary artery disease in Tunisian patients |
Q44038057 | The effect of SIRT1 gene polymorphisms on ambulatory blood pressure of hypertensive patients in the Kazakh population |
Q82091513 | The effect of preventability and severity levels of a genetic disorder on desire to communicate genetic testing information to family members |
Q37587940 | The effects of ABCC2 G1249A polymorphism on the risk of resistance to antiepileptic drugs: a meta-analysis of the literature |
Q53804171 | The ethnospecific distribution of the HFE haplotypes for IVS2(+4)t/c, IVS4(-44)t/c, and IVS5(-47)g/a in populations of Russia and possible effects of these single-nucleotide polymorphisms in splicing. |
Q37445920 | The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey. |
Q37799610 | The expanding world of myotonic dystrophies: how can they be detected? |
Q39148159 | The founder mutations in the BRCA1, BRCA2, and ATM genes in Moroccan Jewish women with breast cancer |
Q84009314 | The gene of Bloom's syndrome: an autosomal recessive disorder with male dominance |
Q84478713 | The genetic background difference between diabetic patients with and without nephropathy in a Taiwanese population by linkage disequilibrium mapping using 382 autosomal STR markers |
Q33721229 | The genetics of Alzheimer disease and the application of molecular tests |
Q47306451 | The genomic similarities with linguistic difference: a study among the Oraon and Munda tribes of the Ranchi district, Jharkhand, India |
Q38317817 | The genotype distribution of the XRCC1, XRCC3, and XPD DNA repair genes and their role for the development of acute myeloblastic leukemia |
Q88015082 | The global alliance for genomics & health |
Q43728815 | The haystack is made of needles |
Q84898167 | The impact of 5,10-methenyltetrahydrofolate synthetase polymorphism on diabetic nephropathy in the Taiwanese population |
Q39106977 | The impact of common tumor necrosis factor haplotypes on the development of asthma in children: an Egyptian model. |
Q34341025 | The impact of social contexts in testing for alpha-1 antitrypsin deficiency: the roles of physicians and others |
Q54660061 | The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses. |
Q42582986 | The importance of patient engagement |
Q46201998 | The influence of g.19124G>a genetic polymorphism in the OPG gene on bone mineral density in Chinese women |
Q34304663 | The influence of omeprazole on platelet inhibition of clopidogrel in various CYP2C19 mutant alleles |
Q52604243 | The interleukin 6 -572 G>C (rs1800796) polymorphism is associated with the risk of developing acute coronary syndrome. |
Q44735708 | The interleukin-6-572G/C gene polymorphism and the risk of intracranial aneurysms in a Chinese population |
Q33721254 | The law, adolescents, and the APOE epsilon 4 genotype: a view from Canada |
Q42282504 | The live-birth prevalence of mucopolysaccharidoses in Estonia |
Q37587882 | The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry |
Q43855142 | The methylation status of the DDX43 promoter in Chinese patients with chronic myeloid leukemia |
Q38930663 | The microRNA-367 inhibits the invasion and metastasis of gastric cancer by directly repressing Rab23. |
Q41691780 | The missing link in linkage analysis: the well sibling revisited |
Q35966991 | The mitochondrial DNA 9-bp deletion polymorphism is a risk factor for hepatocellular carcinoma in the Chinese population |
Q82841156 | The mitochondrial DNA variant 16189T>C is associated with coronary artery disease and myocardial infarction in Saudi Arabs |
Q37143064 | The need to build trust: a perspective on disparities in genetic testing |
Q43265637 | The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders |
Q84709001 | The p53 codon 72 polymorphism and the risk of oral cancer in a Chinese Han population |
Q33721225 | The personal and social consequences of Alzheimer disease |
Q54528837 | The polymorphism of HLA-DR and -DQ allelic genes associated with intrahepatic cholestasis of pregnancy. |
Q46203718 | The polymorphisms on Igkappa gene are related to susceptibility of breast cancer and gastric cancer |
Q73742292 | The predictive value of BRCA1 and BRCA2 mutation testing |
Q39733305 | The presence of functionally relevant toll-like receptor polymorphisms does not significantly correlate with development or outcome of sepsis |
Q51887880 | The prevalence of consanguineous marriages in an underserved area in Lebanon and its association with congenital anomalies. |
Q35036511 | The proportion of diploid 46,XX cells increases with time in women with Turner syndrome--a 10-year follow-up study. |
Q43205614 | The protein tyrosine phosphatase, non-receptor type 22 R620W polymorphism does not confer susceptibility to psoriasis in the genetic homogeneous population of Crete |
Q54276735 | The proto-oncogene KRAS and BRAF profiles and some clinical characteristics in colorectal cancer in the Turkish population. |
Q33721260 | The psychological impact of genetic testing for Alzheimer disease |
Q51002633 | The rate of sex chromosome aneuploidies in prenatal diagnosis and subsequent decisions in Western Turkey. |
Q35006846 | The relationship between polymorphisms on chromosome 9p21 and age of onset of coronary heart disease in black and white women |
Q36092745 | The relationship between single nucleotide polymorphisms in 5-HT2A signal transduction-related genes and the response efficacy to selective serotonin reuptake inhibitor treatments in Chinese patients with major depressive disorder |
Q80757015 | The relationship of the ESR1 gene polymorphisms with the presence of coronary artery disease determined by coronary angiography |
Q84431105 | The reliability of maternal serum triple test in prenatal diagnosis of fetal chromosomal abnormalities of pregnant Turkish women |
Q73356705 | The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families |
Q35836789 | The role of distress in uptake and response to predisposition genetic testing: the BMPR2 experience |
Q80062526 | The role of financial factors in acceptance of clinical BRCA genetic testing |
Q53815849 | The role of matrix metalloproteinase-2 promoter polymorphisms in coronary artery disease and myocardial infarction. |
Q42608711 | The role of physician preferences in the choice of amniocentesis or chorionic villus sampling for prenatal genetic testing |
Q53263933 | The role of test accuracy in predicting acceptance of genetic susceptibility testing for Alzheimer's disease. |
Q82668553 | The role of the methylenetetrahydrofolate reductase 677 and 1298 polymorphisms in Cretan children with acute lymphoblastic leukemia |
Q44445930 | The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus |
Q36225325 | The rs10757278 polymorphism of the 9p21.3 locus is associated with premature coronary artery disease in Polish patients |
Q40588156 | The rs251684 Variant of PLA2G4C Is Associated with Autism Spectrum Disorder in the Northeast Han Chinese Population |
Q58661086 | The science, applications, and ethical concerns surrounding low copy number DNA analysis |
Q51351254 | The study on the relationship between IRS-1 Gly972Arg and IRS-2 Gly1057Asp polymorphisms and type 2 diabetes in the Kurdish ethnic group in West Iran. |
Q53328198 | The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers. |
Q39737496 | The use of a reverse hybridization strip assay for the study of hemochromatosis-associated gene mutations in Lebanon |
Q81468025 | The use of ancestral haplotypes in the molecular diagnosis of familial breast cancer |
Q78178433 | The use of genetic tests and genetic information by life insurance companies: does this differ from the use of routine medical information? |
Q34439859 | The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. |
Q45303918 | The utilization and outcome of diagnostic, predictive, and prenatal genetic testing for huntington disease in johannesburg, South Africa |
Q50456708 | The value of MLPA in Waardenburg syndrome. |
Q80757006 | The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing |
Q34777868 | Three new BLM gene mutations associated with Bloom syndrome |
Q42938222 | Thrombophilic gene mutations in women with repeated spontaneous miscarriage |
Q37277642 | Thymidylate synthase gene polymorphism and survival of colorectal cancer patients receiving adjuvant 5-fluorouracil. |
Q49078572 | Time perspective in hereditary cancer: psychometric properties of a short form of the Zimbardo Time Perspective Inventory in a community and clinical sample |
Q43005315 | Tissue-specific expression profiling of receptor for advanced glycation end products and its soluble forms in esophageal and lung cancer |
Q87255696 | To Pay or Not to Pay? Is that the Question? |
Q58592811 | To Test or Not to Test? |
Q38021488 | To know or not to know: an update of the literature on the psychological and behavioral impact of genetic testing for Alzheimer disease risk |
Q84181531 | To take or not to take genetic carrier tests: personal characteristics associated with taking recommended and nonrecommended tests |
Q104610692 | Toll-Like Receptor 9 Expression Levels in Breast Carcinoma Correlate with Improved Overall Survival in Patients Treated with Neoadjuvant Chemotherapy and Could Serve as a Prognostic Marker |
Q39009493 | Toll-like receptor 6 and connective tissue growth factor are significantly upregulated in mitomycin-C-treated urothelial carcinoma cells under hydrostatic pressure stimulation. |
Q54302881 | Toward optimal detection of the common prenatal aneuploidies by quantitative fluorescent-polymerase chain reaction: comparison of two commercial assays. |
Q128964839 | Toward the Future: Perspectives on the Impacts of Genetic Testing and Biomarkers on Advancing Health Care |
Q86027992 | Transcriptional expression analysis of survivin splice variants reveals differential expression of survivin-3α in breast cancer |
Q74210394 | Transferrin saturation phenotype and HFE genotype screening for hemochromatosis and primary iron overload: predictions from a model based on national, racial, and ethnic group composition in central Alabama |
Q34993054 | Transforming growth factor-beta3 gene polymorphisms and nonsyndromic cleft lip and palate risk: a meta-analysis. |
Q54272328 | Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example. |
Q33733422 | Transparency, openness, and genetic testing |
Q54289469 | Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1. |
Q46355638 | Trisomies 13 and 18: prenatal diagnosis and epidemiologic studies in Hawaii, 1986-1997. |
Q51870417 | Trisomy 12p and monosomy 4p: phenotype-genotype correlation. |
Q42250262 | Trp homozygotes at codon 64 of ADRB3 gene are protected against the risk of type 2 diabetes in the Kashmiri population. |
Q85054122 | Trust It or Trash It? A Tool for Evaluating the Quality of Genetic Information |
Q104058906 | Tumor Necrosis Factor Alpha Gene Polymorphisms Increase Susceptibility to Adenovirus Infection in Children and Are Correlated with Severity of Adenovirus-Associated Pneumonia |
Q54383246 | Tumor necrosis factor alpha 308 G/A polymorphism and hepatocellular carcinoma risk in a Chinese population. |
Q34113904 | Tumor necrosis factor-alpha and polycystic ovarian syndrome: a clinical, biochemical, and molecular genetic study |
Q57641040 | Turning Toward Participants in Biobanking |
Q81887588 | Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes |
Q44136043 | Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin |
Q47700015 | Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy |
Q28215130 | Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2 |
Q50655830 | Two single-nucleotide polymorphisms in the DKK1 gene are associated with developmental dysplasia of the hip in the Chinese Han female population. |
Q36476815 | UCP2 I/D modulated change in BMI during a lifestyle modification intervention study in Japanese subjects |
Q47239950 | Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families? |
Q34011507 | Uncommon mutations and polymorphisms in the hemochromatosis gene |
Q40783094 | Underlying ambiguities in genetic privacy legislation |
Q84201173 | Understanding gene-environment interactions |
Q33721220 | Understanding genetic testing for Alzheimer disease: medical and epidemiological background |
Q33721241 | Understanding probabilistic risk in predisposition genetic testing for Alzheimer disease |
Q46185821 | Universal newborn screening for Hb H disease in California |
Q54410429 | Upregulation of Fecal Cytokeratin 19 Is Associated with Prognosis in Older Colorectal Cancer Patients |
Q88995036 | Upregulation of HOXA10 Protein Expression Predicts Poor Prognosis for Colorectal Cancer |
Q39347137 | Upregulation of miR-98 Inhibits Apoptosis in Cartilage Cells in Osteoarthritis |
Q34309892 | Uptake, time course, and predictors of risk-reducing surgeries in BRCA carriers |
Q93098017 | Urine-Based Liquid Biopsy for Nonurological Cancers |
Q48523854 | Use of Bone Morphogenetic Protein 15 Polymorphisms to Predict Ovarian Stimulation Outcomes in Infertile Brazilian Women |
Q83532375 | Use of ethnicity-specific sequence tag site markers for Y chromosome microdeletion studies |
Q46867261 | Use of free fetal DNA in prenatal noninvasive detection of fetal RhD status and fetal gender by molecular analysis of maternal plasma |
Q42696749 | Using Cost-Effectiveness Analysis to Quantify the Value of Genomic-Based Diagnostic Tests: Recommendations for Practice and Research |
Q42966047 | Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations |
Q33149054 | Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. |
Q37067078 | Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia |
Q91295512 | Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease |
Q42564323 | VAV3 Gene Polymorphism Is Associated with Paget's Disease of Bone |
Q47175623 | VEGF Polymorphisms Among Neovascular Age-Related Macular Degenerative Subjects in a Multiethnic Population. |
Q86627703 | VEGF gene polymorphisms and susceptibility to colorectal cancer |
Q38645579 | VEGFR2 Gene Polymorphism Correlates with Deep Venous Thrombosis Risk in Chinese Han Population |
Q51519228 | VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease. |
Q40745002 | VKORC1 -1639G/A and 1173 C/T Genetic Polymorphisms Influence Individual Differences in Warfarin Maintenance Dose |
Q46540226 | VNTR polymorphism of the DRD4 locus in different Pakistani ethnic groups |
Q46751607 | Validation of GNE:p.M712T identification by melting curve analysis |
Q50200051 | Validation of Next-Generation Sequencer for 24-Chromosome Aneuploidy Screening in Human Embryos. |
Q88459220 | Validation of a Chromosomal Microarray for Prenatal Diagnosis Using a Prospective Cohort of Pregnancies with Increased Risk for Chromosome Abnormalities |
Q50343721 | Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1. |
Q83510056 | Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C |
Q58193847 | Validation of dHPLC for Molecular Diagnosis of β-Thalassemia in Southern Italy |
Q39174283 | Validation of standards for quantitative assessment of JAK2 c.1849G>T (p.V617F) allele burden analysis in clinical samples |
Q98229125 | Validation of the Hemochromatosis (2SNP+) Direct EUROArray Assay for the Molecular Diagnosis of HFE-Related Hereditary Hemochromatosis |
Q57623820 | Validity and Utility of a LRRK2 G2019S Mutation Test for the Diagnosis of Parkinson's Disease |
Q80062517 | Variable penetrance and expressivity of the splice altering 5T sequence in the cystic fibrosis gene |
Q101118441 | Variants c.677 C>T, c.1298 A>C in MTHFR, and c.66 A>G in MTRR Affect the Occurrence of Recurrent Pregnancy Loss in Chinese Women |
Q90408302 | Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome |
Q57947781 | Variants of Uncertain Clinical Significance as a Result of BRCA1/2 Testing: Impact of an Ambiguous Breast Cancer Risk Message |
Q39172135 | Variants of the CDH1 (E-Cadherin) Gene Associated with Oral Clefts in the Thai Population. |
Q38853258 | Variation of matrix metalloproteinase 1 and 3 haplotypes and their serum levels in patients with rheumatoid arthritis and osteoarthritis |
Q36979515 | Variations in the PDCD6 gene are associated with increased uterine leiomyoma risk in the Chinese |
Q45343672 | Variations of the COL1A1 gene promoter and the relation to developmental dysplasia of the hip. |
Q73015976 | Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1 |
Q43689817 | Vascular behcet and mutations in thrombogenic genes: methylene tetrahydrofolate reductase, factor V, and prothrombin |
Q43428976 | Vascular endothelial growth factor (VEGF) gene polymorphisms and colorectal cancer: a meta-analysis of epidemiologic studies |
Q44221968 | Vascular endothelial growth factor +936 C/T gene polymorphism and glioma risk in a Chinese Han population |
Q84183369 | Vascular endothelial growth factor -634G/C polymorphism associated with osteonecrosis of the femoral head in a Chinese population |
Q44996631 | Vascular endothelial growth factor 936 c>T polymorphism increased oral cancer risk: evidence from a meta-analysis. |
Q54363931 | Verification of multiplex ligation-dependent probe amplification probes in the absence of positive samples. |
Q37767719 | Very low frequencies of Toll-like receptor 2 supposed-2029T and 2258A (RS5743708) mutant alleles in southern Brazilian critically ill patients: would it be a lack of worldwide-accepted clinical applications of Toll-like receptor 2 variants? |
Q95926480 | Visfatin and SREBP-1c mRNA Expressions and Serum Levels Among Egyptian Women with Polycystic Ovary Syndrome |
Q39244359 | Vitamin D receptor ApaI gene polymorphism and tuberculosis susceptibility: a meta-analysis |
Q43563830 | Vitamin D receptor BsmI polymorphism and osteoporosis risk: a meta-analysis from 26 studies |
Q36638586 | Vitamin D receptor gene BsmI and FokI polymorphisms in relation to ovarian cancer risk in the Polish population |
Q46271039 | Vitamin D receptor gene polymorphism and osteoporosis in the Turkish population |
Q51529957 | Vitamin D-Binding Protein Is a Potential Urinary Biomarker of Irbesartan Treatment Response in Patients with IgA Nephropathy. |
Q74741429 | Voluntary disclosure of BRCA1 mutation test results |
Q38723028 | WNT5A Promoter Methylation Is Associated with Better Responses and Longer Progression-Free Survival in Colorectal Cancer Patients Treated with 5-Fluorouracil-Based Chemotherapy |
Q48639175 | Web-site-based recruitment for research studies on abdominal aortic and intracranial aneurysms |
Q91841404 | Weighted Gene Co-Expression Network Analysis Reveals Six Hub Genes Involved in and Tight Junction Function in Pancreatic Adenocarcinoma and their Potential Use in Prognosis |
Q74741453 | What does my doctor think? Preferences for knowing the doctor's opinion among women considering clinical testing for BRCA1/2 mutations |
Q38986417 | Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes |
Q33721326 | Who should provide genetic education prior to gene testing? Computers and other methods for improving patient understanding |
Q55043226 | Whole Blood PCR Amplification with Pfu DNA Polymerase and Its Application in Single-Nucleotide Polymorphism Analysis. |
Q39734200 | Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy |
Q47291172 | Whole Exome Sequencing Identified a Novel IGFBP6 Variant in a Disc Degeneration Pedigree |
Q53020073 | Whole genome amplification on DNA from filter paper blood spot samples: an evaluation of selected systems. |
Q90076039 | Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy |
Q91629126 | Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases |
Q38140064 | Whole-genome sequencing and infectious disease: a novel application of sequencing technology |
Q39001971 | Whose Biobank? Should Biobanks Serve Research Interests or the Needs for Personalized Medicine? Analysis of the Hungarian Law. |
Q59154208 | Why Do People Choose Not to Have Screening for Hemochromatosis? |
Q87301355 | Will the wall come tumbling down? |
Q54442695 | Williams-Beuren syndrome: diagnosis by polymorphic markers. |
Q35621042 | Willingness to pay for genetic testing for Alzheimer's disease: a measure of personal utility |
Q46293701 | Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry |
Q53593990 | X-linked Menkes disease: first documented report of germ-line mosaicism. |
Q84370675 | X;7 translocation in an Indian woman with hypergonadotropic amenorrhea-a case report |
Q40734506 | XPG Gene Polymorphisms and the Risk of Gastric Cardia Adenocarcinoma |
Q81432235 | Y chromosome microdeletions in infertile males from Andhra Pradesh, South India |
Q28181333 | Y-chromosome DNA haplotypes in Jews: comparisons with Lebanese and Palestinians |
Q84548529 | ZNF804A rs1344706 variant and schizophrenia in a Romanian population from Cluj Napoca |
Q104610687 | lncRNA TINCR SNPs and Expression Levels Are Associated with Bladder Cancer Susceptibility |
Q54394299 | mRNA expressions of inducible nitric oxide synthase, endothelial nitric oxide synthase, and neuronal nitric oxide synthase genes in meningitis patients. |
Q93364638 | miR-146a rs2910164 Polymorphism and Risk of Papillary Thyroid Carcinoma: A Meta-Analysis |
Q91420234 | miR-148a-3p Suppresses the Proliferation and Invasion of Esophageal Cancer by Targeting DNMT1 |
Q93338721 | miR-21 Contributes to Human Amniotic Membrane-Derived Mesenchymal Stem Cell Growth and Human Amniotic Membrane-Derived Mesenchymal Stem Cell-Induced Immunoregulation |
Q53672283 | miR-26a promoted by interferon-alpha inhibits hepatocellular carcinoma proliferation and migration by blocking EZH2. |
Q64093258 | miRNA-24 Gene Sequence, DHFR -829C-T Genotypes, and Methotrexate Response in Mexican Patients with Rheumatoid Arthritis |
Q47902787 | miRNA-Related Polymorphisms in miR-423 (rs6505162) and PEX6 (rs1129186) and Risk of Esophageal Squamous Cell Carcinoma in an Iranian Cohort |
Q46407965 | p.Ala546 > Asp and p.Arg555 > Trp mutations of TGFBI gene and their clinical manifestations in two large Chinese families with granular corneal dystrophy type I. |
Q39822081 | p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease. |
Q54407212 | p53 Codon 72 Polymorphism and Gastric Cancer Risk in a Chinese Han Population |
Q58808658 | p53 Mutations, Polymorphisms, and Haplotypes in Pakistani Ethnic Groups and Breast Cancer Patients |
Q54301400 | p53 and risk of endometriosis in Indian women. |
Q64265416 | β-Adrenergic Receptor Gene Polymorphisms Are Associated with Cardiovascular Events But not All-Cause Mortality in Coronary Artery Disease Patients: A Meta-Analysis of Prospective Studies |
Q87374176 | β-catenin and K-ras mutations and RASSF1A promoter methylation in Taiwanese colorectal cancer patients |
Q92658078 | κ Opioid Receptor 1 Single Nucleotide Polymorphisms were Associated with the Methadone Dosage |
Q57910567 | “For All My Family's Sake, I Should Go and Find Out”: An Australian Report on Genetic Counseling and Testing Uptake in Individuals at High Risk of Breast and/or Ovarian Cancer |