Genetic Testing and Molecular Biomarkers

journal

Genetic Testing and Molecular Biomarkers is …
instance of (P31):
scientific journalQ5633421

External links are
P6981ACNP journal ID2847239
2724949
P8375Crossref journal ID4976
82548
P1250Danish Bibliometric Research Indicator (BFI) SNO/CNO8704
P1058ERA Journal ID2422
P236ISSN1090-6576
1557-7473
1945-0257
1945-0265
P1277JUFO ID56516
P1055NLM Unique ID101494210
9802546
P10283OpenAlex IDV96572642
P3181OpenCitations bibliographic resource ID103620
264452
P1156Scopus source ID22167
17700156201
P4616UniProt journal ID4182

P1240Danish Bibliometric Research Indicator level1
P8875indexed in bibliographic reviewScience Citation Index ExpandedQ104047209
ScopusQ371467
P123publisherMary Ann Liebert, Inc.Q6778890
P1476titleGenetic Testing and Molecular Biomarkers

Reverse relations

published in (P1433)
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
Q374217771q44-qter trisomy: clinical report and review of the literature.
Q4501906721st-Century Healthcare Policy and the Regulation of Laboratory-Developed Tests
Q407515075569G/A polymorphism of the HFE gene: no implications for C282Y genotyping in a hemochromatosis screening study of 65,238 individuals
Q46792043A 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.
Q51981356A 6-year experience demonstrates the utility of screening for both cytogenetic and FMR-1 abnormalities in patients with mental retardation.
Q91807348A Case-Control Study on Association of Ulcerative Colitis with FCGR2A Gene Polymorphisms in Chinese Patients
Q89890739A Case-Control Study on the Correlation Between Thymidylate Synthase Gene Polymorphisms and Raltitrexed Treatment Combined with Transcatheter Arterial Chemoembolization in Hepatocellular Carcinoma Treatment
Q47768245A Combined Study of SLC6A15 Gene Polymorphism and the Resting-State Functional Magnetic Resonance Imaging in First-Episode Drug-Naive Major Depressive Disorder
Q92613467A Comparative Study of ARHI Imprinted Gene Detection and Fine-Needle Aspiration Cytology in the Differential Diagnosis of Benign and Malignant Thyroid Nodules
Q49668020A Comparative Study on the Role of Xpert MTB/RIF in Testing Different Types of Spinal Tuberculosis Tissue Specimens
Q49873871A Crack in the Wall of Competition: Will Compassion Prevail?
Q112290538A Five-mRNA Expression Signature to Predict Survival in Oral Squamous Cell Carcinoma by Integrated Bioinformatic Analyses
Q84794465A G-to-T transversion at the splice acceptor site of dystrophin exon 14 shows multiple splicing outcomes that are not exemplified by transition mutations
Q47566718A Genetic Variant in miR-124 Decreased the Susceptibility to Esophageal Squamous Cell Carcinoma in a Chinese Kazakh Population
Q92366482A Hallmark-Based Six-Gene Expression Signature to Assess Colorectal Cancer and Its Recurrence Risk
Q92743141A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita
Q57234993A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin
Q102056204A Meta-Analysis of the Association Between the VEGF +936C>T Gene Polymorphism and Digestive System Cancer Susceptibility
Q35896862A 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
Q59548997A Missense Mutation in Exon 13 in BRCA2, c.7235G>A, Results in Skipping of Exon 13
Q29303555A Multiplex ARMS Test for 10 Cystic Fibrosis (CF) Mutations: Evaluation in a Prenatal CF Screening Program
Q64935078A Mutational Analysis of GJB2, SLC26A4, MT-RNA1, and GJB3 in Children with Nonsyndromic Hearing Loss in the Henan Province of China.
Q53297006A New Day Dawns for Direct-to-Consumer Marketing.
Q51062350A Nonsense ALMS1 Mutation Underlies Alström Syndrome in an Extended Mennonite Kindred Settled in North Mexico.
Q90295507A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories
Q90869820A Novel CDH1 Mutation Causing Reduced E-Cadherin Dimerization Is Associated with Nonsyndromic Cleft Lip With or Without Cleft Palate
Q89494997A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas
Q90682637A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family
Q99245891A Novel Mutation in the IL6R Gene Identified in a Family with Asthma Patients
Q91841412A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family
Q97556698A Novel Nonsense Mutation in the EXT2 Gene Identified in a Family with Hereditary Multiple Osteochondromas
Q91586543A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1
Q92509760A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia
Q50317097A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing.
Q91914491A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family
Q64387069A 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
Q50485300A PCR-RFLP assay for the A716T mutation in the WFS1 gene, a common cause of low-frequency sensorineural hearing loss.
Q48268937A PCR-RFLP test for simultaneous detection of two single-nucleotide insertions in the Connexin-26 gene promoter
Q58801519A Pilot C282Y Hemochromatosis Screening in Italian Newborns by TaqMan™ Technology
Q40201029A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood
Q87104166A Potential Role for Aromatase Levels in Coronary Heart Disease
Q90998690A Preliminary Study on Metadherin as a Potential Marker for Progression of Diffuse Large B Cell Lymphoma
Q46538670A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses
Q90790742A Role for Storytelling in Improving Consumer Understanding of Genetic Testing
Q104129542A Shared Susceptibility Locus in the p53 Gene for both Gastric and Esophageal Cancers in a Northwestern Chinese Population
Q42881063A Simple Allele-Specific Polymerase Chain Reaction Method to Detect the Gly143Glu Polymorphism in the Human Carboxylesterase 1 Gene: Importance of Genotyping for Pharmacogenetic Treatment
Q58193872A Single Strand Conformation Polymorphism-Based Carrier Test for Spinal Muscular Atrophy
Q54636233A Single multiplexed allele-specific polymerase chain reaction for simultaneous detection of alpha1-antitrypsin S and Z mutations.
Q87270219A Single-Nucleotide Polymorphism of miR-196a2T>C rs11614913 Is Associated with Hepatocellular Carcinoma in the Chinese Population
Q48013295A Study on the Role of Estrogen Receptor Gene Polymorphisms in Female Infertility
Q61454361A Tetra-Primer Amplification Refractory System Technique for the Cost-Effective and Novel Genotyping of Eight Single-Nucleotide Polymorphisms of the Catechol-O-Methyltransferase Gene
Q110764352A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family
Q54447163A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree.
Q37587888A call for participatory oversight
Q42284558A candidate gene study for the association of host single nucleotide polymorphisms with liver cirrhosis risk in chinese hepatitis B patients
Q54682775A combined allele-specific PCR and RFLP assay to detect the 35delG mutation in the Connexin 26 gene.
Q52580413A common 1317TC polymorphism in MTHFR can lead to erroneous 1298AC genotyping by PCR-RE and TaqMan probe assays.
Q48292997A comparative study on the cytogenetic activity of three benzodiazepines in vitro
Q78684515A cost-effective screening test for detecting AZF microdeletions on the human Y chromosome
Q34108725A cytogenetic study in a large population of intellectually disabled Indonesians
Q80757064A de novo reciprocal t(2;18) translocation with regular trisomy 21
Q36174297A delta-sarcoglycan gene polymorphism as a risk factor for hypertrophic cardiomyopathy.
Q47980843A duplex allele-specific amplification PCR to detect SMN1 deletion
Q54613077A fluorescent multiplex-DGGE screening test for mutations in the BRCA1 gene.
Q41452007A frequent large rearrangement in the CFTR gene in cystic fibrosis patients from Reunion Island
Q35181543A functional insertion/deletion polymorphism in the promoter region of the NFKB1 gene increases the risk of papillary thyroid carcinoma
Q46012620A functional polymorphism in MIR196A2 is associated with risk and progression of nasopharyngeal carcinoma in the Chinese population.
Q54337833A functional polymorphism in the epidermal growth factor gene is associated with risk for glioma in a Chinese population.
Q81468045A genetic history questionnaire-based system in primary prenatal care to screen for selected fetal disorders
Q44630879A genomic insight into the peopling of Manipur, India
Q39791829A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient.
Q47953614A gradient of NOS1 overproduction alleles in European and Mediterranean populations
Q36889826A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men.
Q46490942A haplotype of the SMTN gene associated with myocardial infarction in Japanese women
Q79771196A high-resolution polymerase chain reaction-sequence-specific primer HLA-B*27 typing set and its application in routine HLA-B27 testing
Q34222871A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach
Q56776880A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India
Q83924763A measure of truth in genetic testing
Q38261101A meta-analysis of the correlation between the HLA-DRB1*03 allele and chronic hepatitis B in the Han Chinese population
Q87292249A multiplex polymerase chain reaction method for the simultaneous detection of GSTM1, GSTT1, and GSTP1 polymorphisms
Q38355629A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations
Q35805662A mutation-sensitive switch assay to detect five clinically significant epidermal growth factor receptor mutations
Q44559895A nationwide genetic testing survey in Italy, year 2007.
Q48107115A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation.
Q45262046A new method for FMR1 gene methylation screening by multiplex methylation-specific real-time polymerase chain reaction
Q46941101A new, easy, and rapid high-throughput detection method for the common GJB2 (CX26), 35delG mutation
Q81347889A note on appropriate use of statistical tests of mutation rates from ordered groups
Q36638555A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family
Q48937719A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of onset: HapMap tag-single-nucleotide polymorphism analysis
Q38355625A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome
Q47331088A novel SNaPshot assay to detect genetic mutations related to iron metabolism.
Q46368558A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus
Q51036167A novel multiplex rt-PCR assay for the detection of four chromosomal translocations of leukemia.
Q45880585A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly
Q81718859A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses
Q84478693A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis
Q80757056A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses
Q83764073A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia
Q83532380A novel polymorphism in codon 25 of the KRAS gene associated with gallbladder carcinoma patients of the eastern part of India
Q38026591A novel splice site and two known mutations of androgen receptor gene in sex-reversed XY phenotype
Q37587924A novel tri-allelic insertion/deletion polymorphism in the promoter of p21(Waf1/Cip1) and the association with gastric cancer
Q36174302A novel variation of PLAGL1 in Chinese patients with isolated ventricular septal defect
Q51918698A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions.
Q38523999A philosophical critique of decision analysis as a tool in genetic testing
Q34112119A pilot study of hereditary breast and ovarian knowledge among a multiethnic group of Hispanic women with a personal or family history of cancer
Q36117526A pilot study on cytotoxic T lymphocyte-4 gene polymorphisms in urinary schistosomiasis
Q52936689A pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes.
Q54332814A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation.
Q54344393A polymerase chain reaction-restriction fragment length polymorphism method for screening ZNF804A gene polymorphism (rs1344706) in patients with schizophrenia: a significant association.
Q78178696A practical guide for the validation of genetic tests
Q77962887A primer for predicting risk of disease in HFE-linked hemochromatosis
Q46982969A proposed role for consumers and the general public as consumers of health care in community-wide genetic testing
Q39400734A rapid PCR-SSP assay for the hemochromatosis-associated Tyr250Stop mutation in the TFR2 gene
Q73717894A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR
Q79327686A rapid and noninvasive method for detecting tissue-limited mosaicism: detection of i(12)(p10) in buccal smear from a child with Pallister-Killian syndrome
Q84242142A 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
Q50488665A real-time polymerase chain reaction-based protocol for low/medium-throughput Y-chromosome microdeletions analysis.
Q43495825A report template for molecular genetic tests designed to improve communication between the clinician and laboratory
Q74210358A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations
Q73338759A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome
Q78178539A simple VNTR-PCR method for detecting maternal cell contamination in prenatal diagnosis
Q73717904A simple method of screening for the common connexin-26 gene 35delG mutation in nonsyndromic neurosensory autosomal recessive deafness
Q46897194A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification.
Q78178490A simple system for automated two-dimensional electrophoresis: applications to genetic testing
Q78684524A simplified method for the detection of Y chromosome microdeletions in infertile men using a multiplex sequence-tagged site-based amplification
Q34722075A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications
Q36789430A statewide survey of practitioners to assess knowledge and clinical practices regarding hereditary breast and ovarian cancer
Q51981352A strategy for fragile-X carrier screening.
Q54289464A study on genetic test of lactase persistence in relation to milk consumption in regional groups of India.
Q39958810A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population
Q80757069A tetra-primer polymerase chain reaction approach for the detection of JAK2 V617F mutation
Q36155805A typing system for the major histocompatibility complex class I chain related genes A and B using polymerase chain reaction with sequence-specific primers
Q78823870A very rare association of three mutations of the HFE gene for hemochromatosis
Q35064863ABCB1 C3435T polymorphism and the risk of coronary heart disease: a meta-analysis
Q35223988ABCB1 C3435T polymorphism and the risk of ischemic heart disease: a meta-analysis
Q38325834ABCC8 polymorphisms are associated with triglyceride concentration in type 2 diabetics on sulfonylurea therapy.
Q36353183ABL kinase domain mutations in patients with chronic myeloid leukemia in Jordan
Q91143834ABO Genotype and Blood Type Are Associated with Otitis Media
Q59277554ACE and AGTR1 Polymorphisms in Elite Rhythmic Gymnastics
Q54359984ACE gene polymorphism in premature neonates with respiratory distress syndrome.
Q38916315AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population
Q36720686ALOX5 is associated with tuberculosis in a subset of the pediatric population of North China
Q81693416APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations
Q50033297ATM, BCL2, and TGFβ Gene Polymorphisms as Radiotherapy Outcome Biomarkers in Head and Neck Squamous Cell Carcinoma Patients
Q87138485ATP7B Gene Mutations in Croatian Patients with Wilson Disease
Q40734476AXIN2 Polymorphisms and Their Association with Colorectal Cancer in Mexican Patients
Q51072861Aberrant Expression of miR-323a-5p in Patients with Refractory Epilepsy Caused by Focal Cortical Dysplasia.
Q28279636Aberrant apolipoprotein E expression and cognitive dysfunction in patients with poststroke depression
Q41192774Aberrant methylation of promoter region of SPINT2/HAI-2 gene: an epigenetic mechanism in hepatitis C virus-induced hepatocarcinogenesis
Q54527620Aberrations of chromosomes 9 and 22 in acute lymphoblastic leukemia cases detected by ES-fluorescence in situ hybridization.
Q87426619About sequence quality: impact on clinical applications
Q46464502Absence of H186R polymorphism in exon 4 of the APOBEC3G gene among North Indian individuals
Q46599521Absence of commonly reported leucine-rich repeat kinase 2 mutations in Eastern Indian Parkinson's disease patients
Q38352197Absence of the Kilifi mutation in the rhinovirus-binding domain of ICAM-1 in a Caucasian population
Q64929059Acceptance of neonatal genetic screening for hereditary hemochromatosis by informed parents.
Q81432181Accuracy of cancer family histories: comparison of two breast cancer syndromes
Q54374364Accuracy 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.
Q50752098Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.
Q40614768Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats
Q78178468Accurate, high-throughput "snapshot" detection of hMLH1 mutations by two-dimensional DNA electrophoresis
Q38884959Acquired Mutation of the Tyrosine Kinase JAK2V617F in Egyptian Patients with Myeloid Disorders
Q92670179Add Water and Serve: Liquid Biopsies Making Waves
Q43782292Addition of β-mercaptoethanol is a prerequisite for high-quality RNA isolation using QIAsymphony technology as demonstrated by detection of molecular aberrations in hematologic malignancies
Q51082511Additional Evidence Supports Association of Common Variants in COL11A1 with Increased Risk of Hip Osteoarthritis Susceptibility.
Q74613707Addressing consumer grievances in medicine: policies and practices of newborn screening programs in the United States
Q51945547Adiponectin gene haplotype is associated with preeclampsia.
Q33721346Advances in the molecular genetics of congenital structural heart disease
Q83861053Age differences in the relation between ACTN3 R577X polymorphism and thigh-muscle cross-sectional area in women
Q54093259Age-Specific Association of CCL5 Gene Polymorphism with Pulmonary Tuberculosis: A Case-Control Study.
Q50967222Aldosterone synthase gene (CYP11B2) -344C/T polymorphism contributes to the risk of recurrent cerebral ischemia.
Q54326721Allele and genotype frequencies of CYP2C9 within an Iranian population (Mazandaran).
Q54330566Allele and genotype frequencies of CYP3A4, CYP2C19, and CYP2D6 in Han, Uighur, Hui, and Mongolian Chinese populations.
Q51806631Allele and genotype frequencies of serotonin and dopamine transporter and receptor polymorphisms in a Norwegian population.
Q64913439Allele drop-out can occur in alleles differing by a single nucleotide and is not alleviated by preamplification or minor template increments.
Q38344948Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome
Q48000975Allele-specific amplification of exon 7 in the survival motor neuron (SMN) genes for molecular diagnosis of spinal muscular atrophy
Q86837309Allelic Frequency of a 24-bp Duplication in Exon 10 of the CHIT1 Gene in the General Iranian Population
Q44326886Allelic dropout in the ENG gene, affecting the results of genetic testing in hereditary hemorrhagic telangiectasia
Q46471844Allelic frequencies of the 35delG mutation of the GJB2 gene in different Brazilian regions
Q77480367Allelic loss analysis by capillary electrophoresis: an accurate, automated method for detection of deletions in solid tumors
Q46190060Allelic variation and haplotype structure of the dopamine receptor gene DRD2 in nine Indian populations
Q61945752Allograft Inflammatory Factor-1 Gene Polymorphisms in Patients with Rheumatoid Arthritis
Q54410432Alpha- and Beta-Synucleins mRNA Expression in Lymphocytes of Schizophrenia Patients
Q36353172Alpha-1-antitrypsin deficiency in Serbian adults with lung diseases.
Q73834630Amplification 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
Q52932351An Association Study Between Gene Polymorphisms of Folic Acid Metabolism Enzymes and Biochemical and Hormonal Parameters in Acromegaly.
Q50921546An Association Study of the SLC19A1 Gene Polymorphisms/Haplotypes with Idiopathic Recurrent Pregnancy Loss in an Iranian Population.
Q88536530An Evidence Framework for Genetic Testing
Q45938357An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.
Q93097991An Old Concept with a New Twist
Q81432223An RT-PCR-based strategy to estimate full-length CYP2D6 mRNA copy number
Q41906777An algorithm for genetic testing of Serbian patients with demyelinating Charcot-Marie-Tooth
Q47625378An allelic variant at the ATM locus is implicated in breast cancer susceptibility
Q50536485An analysis of hematological parameters to assess the prevalence of anemia in elderly subjects from Saudi Arabia.
Q51892020An anomalous haplotype distribution of the arrestin domain-containing 4 gene (ARRDC4) haplotypes in Caucasians.
Q78178526An efficient protocol for rare mutation genotyping in a large population
Q40639465An improved assay for genotyping the common Alu insertion in the tissue-type plasminogen activation gene PLAT.
Q53219730An insertion/deletion polymorphism at miRNA-122 binding site in the IL1A is associated with a reduced risk of cervical squamous cell carcinoma.
Q37686184An insertion/deletion polymorphism within the proximal promoter of EGLN2 is associated with susceptibility for gastric cancer in the Chinese population
Q48263895An intronic polymorphism of the hMLH1 gene contributes toward incomplete genetic testing for HNPCC.
Q53545734An investigation of the association of the H558R polymorphism of the SCN5A gene with idiopathic cardiac conduction disorders.
Q43265640An unusual melting curve on a LightCycler due to a new mutation in methylenetetrahydrofolate reductase
Q91590386Analyses 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
Q37785549Analysis of Azoospermia Factor Loci Polymorphisms Among Tunisian Infertile Men with Varicocele
Q48704756Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts
Q51562325Analysis of Cyclin-Dependent Kinase Inhibitor-2B rs1063192 Polymorphism in Saudi Patients with Primary Open-Angle Glaucoma.
Q35804238Analysis of DNA methylation in plasma for monitoring hepatocarcinogenesis
Q37790700Analysis of Educational Materials and Destruction/Opt-Out Initiatives for Storage and Use of Residual Newborn Screening Samples
Q34113891Analysis of FokI polymorphism of vitamin D receptor gene in intervertebral disc degeneration
Q59414057Analysis of Human CD36 Gene Sequence Alterations in the Oxidized Low-Density Lipoprotein-Binding Region Using Denaturing High-Performance Liquid Chromatography
Q91295497Analysis of IL17A and IL21 Expression in the Small Intestine of Celiac Disease Patients and Correlation with Circulating Thioredoxin Level
Q43556836Analysis of MEF2A mutations in a Chinese population with premature coronary artery disease
Q51626321Analysis of PTEN gene mutations in a Turkish patient with Cowden syndrome.
Q51518909Analysis of Polymorphism rs1900004 in Atonal bHLH Transcription Factor 7 in Saudi Patients with Primary Open Angle Glaucoma.
Q93060348Analysis of Polymorphisms in the MATN3 and DOT1L Genes and CTX-II Urinary Levels in Patients with Knee Osteoarthritis in a Northeast Mexican-Mestizo Population
Q87270714Analysis of Toll-Like Receptor 2 Polymorphism (rs5743704) in Saudi Patients with Primary Open-Angle Glaucoma
Q47372224Analysis of a large-scale screening of mitochondrial DNA m.1555A>G mutation in 2417 deaf-mute students in northwest of China
Q55069373Analysis of clinical indexes and RUNX3, TBKBP1, PPARGC1B polymorphisms in Chinese Han patients with ankylosing spondylitis.
Q80603304Analysis of cystic fibrosis gene mutations and associated haplotypes in the Croatian population
Q40413303Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever
Q36353178Analysis of polymorphisms in interleukin-10, interleukin-6, and interleukin-1 receptor antagonist in Mexican-Mestizo women with pre-eclampsia
Q54518364Analysis 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.
Q54399549Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module.
Q44042904Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss
Q52692172Analysis of the Impact of Common Polymorphisms of the FTO and MC4R Genes with the Risk of Severe Obesity in Saudi Arabian Population.
Q38410577Analysis of the Possible Persistent Genotoxic Damage in Workers Linked to the Ardystil Syndrome.
Q36602097Analysis of the Relationship Between ADIPOR1 Variants and the Susceptibility of Chronic Metabolic Diseases in a Northeast Han Chinese Population
Q93149747Analysis of the Yp11.2 Deletion Region of Phenotypically Normal Males with an AMELY-Null Allele in the Chinese Han Population
Q44415579Angelman syndrome methylation screening of 15q11-q13 in institutionalized individuals with severe mental retardation
Q53363991Angiotensin II type 1 receptor (AT1) gene A1166C is associated with the risk of hypertension.
Q84431099Angiotensin-converting enzyme gene polymorphism in patients with multiple sclerosis from Bosnia and Herzegovina
Q39241181Angiotensin-converting enzyme insertion/deletion gene polymorphism in a Tunisian healthy and acute myocardial infarction population
Q46840334Angiotensin-converting enzyme insertion/deletion gene polymorphism in lung cancer patients.
Q34491285Anonymous predictive testing for Huntington's disease in the United States
Q83318748Answering the hard questions: the Genetic Testing Registry and its request for information
Q54355573Apolipoprotein E gene polymorphism and the risk of intracerebral hemorrhage in the Chinese population.
Q28273356Apolipoprotein a5 gene polymorphism and risk for metabolic syndrome: a meta-analysis
Q73356681Apparent FMR1 allele instability in non-fragile X males
Q37886139Apparent 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
Q73356676Apparently unstable normal FMR1 alleles in nine developmentally delayed patients: implications for molecular diagnosis of the fragile X syndrome
Q93098011Application of Differentially Methylated Loci in Clinical Diagnosis of Trisomy 21 Syndrome
Q90314391Application of Single-Tube Tri-Primer ARMS-PCR to Detect the NFKB1 ATTG Insertion/Deletion Polymorphism
Q80603313Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory
Q50454989Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay.
Q40666787Application of population screening principles to genetic screening for adult-onset conditions
Q92592872Applications of Next-Generation Sequencing in Neoantigen Prediction and Cancer Vaccine Development
Q57643838Are they really incidental after all?
Q45330149Arg399Gln 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
Q90333988Arginase-1 Variants and the Risk of Familial Coronary Artery Disease in Subjects Originating from Pakistan
Q53232891Arrayed primer extension in the "array of arrays" format: a rational approach for microarray-based SNP genotyping.
Q51590513Arrayed primer extension: a robust and reliable genotyping platform for the diagnosis of single gene disorders: beta-thalassemia and thiopurine methyltransferase deficiency.
Q51604356Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology.
Q78178650Arylsulfatase A pseudodeficiency: altered kinetic and heat-inactivation properties
Q78178727Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation
Q45881455Assessment of a decision aid to assist genetic testing research participants in the informed consent process
Q81694667Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder
Q38065267Assessment of chromosomal aberrations and micronuclei in peripheral lymphocytes from tunisian hospital workers exposed to ionizing radiation
Q42969655Assessment of genetic damage in inflammatory, precancerous, and cancerous pathologies of the esophagus using the comet assay
Q36308148Assessment of individual susceptibility to baseline DNA and cytogenetic damage in a healthy Turkish population: evaluation with lifestyle factors.
Q100406470Association Analysis Between Common Variants of the TRPM1 Gene and Three Mental Disorders in the Han Chinese Population
Q50992425Association Analysis of Nonsyndromic Congenital Heart Disease and Tag Single Nucleotide Polymorphisms of TBX20 and Genes in the Ras-MAPK Pathway.
Q50914876Association Analysis of Single Nucleotide Polymorphisms in C1QTNF6, RAC2, and an Intergenic Region at 14q32.2 with Graves' Disease in Chinese Han Population.
Q49986826Association 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
Q47818413Association Between ADRB2 Genetic Polymorphisms and the Risk of Chronic Obstructive Pulmonary Disease: A Case-Control Study in a Chinese Population
Q54407208Association Between Angiotensin-Converting Enzyme Insertion/Deletion Genetic Polymorphism and Hypertension in a Sample of Lebanese Patients
Q36966576Association Between Apolipoprotein B XbaI Polymorphism and Coronary Heart Disease in Han Chinese Population: A Meta-Analysis
Q91295522Association Between C1q, TRAIL, and Tim-1 Gene Polymorphisms and Systemic Lupus Erythematosus
Q47708570Association Between Clusterin Gene Polymorphisms and Epilepsy in a Han Chinese Population
Q91282257Association Between Complement Factor C2/C3/CFB/CFH Polymorphisms and Age-Related Macular Degeneration: A Meta-Analysis
Q39990878Association Between Gasdermin A and Gasdermin B Polymorphisms and Susceptibility to Adult and Childhood Asthma Among Jordanians.
Q96581807Association Between Genetic Polymorphisms of CR2 Gene and the Risk of Steroid-Induced Osteonecrosis of the Femoral Head in the Chinese Han Male Population
Q34046156Association Between Human Hair Loss and the Expression Levels of Nucleolin, Nucleophosmin, and UBTF Genes
Q51686252Association Between Human Telomerase Reverse Transcriptase Gene Variations and Risk of Developing Breast Cancer.
Q38645665Association Between IL-17A +197 G/A Polymorphism and Cancer Risk: A Meta-analysis
Q36367815Association Between KCNQ1 Genetic Variants and Type 2 Diabetes in the Uyghur Population
Q91143829Association Between LMP-1, LMP-2, and miR-155 Expression as Potential Biomarker in Nasopharyngeal Carcinoma Patients: A Case/Control Study in Vietnam
Q89890738Association Between LOX-1, LAL, and ACAT1 Gene Single Nucleotide Polymorphisms and Carotid Plaque in a Northern Chinese Population
Q91313822Association Between MALAT1 and THRIL Polymorphisms and Precancerous Cervical Lesions
Q36302101Association Between MTHFR C677T Polymorphism and Methotrexate Treatment Outcome in Rheumatoid Arthritis Patients: A Systematic Review and Meta-Analysis
Q90998699Association Between Matrix Metalloproteinase-1, 2, 3 Polymorphisms and Oral Cancer Risk: A Meta-Analysis
Q91138578Association Between Period 3 Gene Polymorphisms and Adverse Effects of Antidepressants for Major Depressive Disorder
Q50555647Association Between Polymorphisms of DNA Repair Genes and Risk of Schizophrenia.
Q40104044Association Between Polymorphisms of the Mannose-Binding Lectin and Severity of Periportal Fibrosis in Schistosomiasis, in the Northeast of Brazil
Q38740989Association Between RET (rs1800860) and GFRA1 (rs45568534, rs8192663, rs181595401, rs7090693, and rs2694770) Variants and Kidney Size in Healthy Newborns.
Q89349272Association Between TGF-β1 Polymorphisms and Asthma Susceptibility Among the Chinese: A Meta-Analysis
Q33437597Association Between TNF-α -308G/A Polymorphism and Risk of Immune Thrombocytopenia: A Meta-Analysis
Q36601866Association Between Three SNPs and Thromboangiitis Obliterans in Xinjiang Uyghur Population
Q40695302Association Between Tissue Inhibitor of Metalloproteinase-3 Gene Methylation and Gastric Cancer Risk: A Meta-Analysis
Q40957566Association Between a Glucokinase Regulator Genetic Variant and Metabolic Syndrome in Taiwanese Adolescents
Q92864067Association Between an Interferon Regulatory Factor 6 Gene Polymorphism and Nonsyndromic Cleft Palate Risk
Q90843259Association Between the Angiotensin-Converting Enzyme Gene Insertion/Deletion Polymorphism and Avascular Necrosis of the Femoral Head
Q92743028Association Between the CYP4F2 Gene rs1558139 and rs2108622 Polymorphisms and Hypertension: A Meta-Analysis
Q31140103Association Between the FokI and ApaI Polymorphisms in the Vitamin D Receptor Gene and Intervertebral Disc Degeneration: A Systematic Review and Meta-Analysis
Q92743024Association Between the IL-10-1082G/A, IL-10-592A/C, and IL-10-819G/A Polymorphisms and Atopic Dermatitis Susceptibility: A Meta-Analysis
Q47855096Association 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
Q35901118Association Between the NFKB1-94ins/del ATTG Polymorphism (rs28362491) and Coronary Artery Disease: A Systematic Review and Meta-Analysis
Q90463338Association 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
Q87420727Association Between the Transforming Growth Factor Beta 1 Gene Polymorphisms and Turkish Patients with Nonsyndromic Cleft Lip With/Without Cleft Palate
Q36064944Association Study Between SLC15A4 Polymorphisms and Haplotypes and Systemic Lupus Erythematosus in a Han Chinese Population
Q90903868Association Study Reveals One Susceptibility Locus with Vitiligo in the Chinese Han Population
Q34976112Association analysis between the prostaglandin E synthase 2 R298H polymorphism and body mass index in 8079 participants of the KORA study cohort
Q36553922Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population
Q35865309Association and interaction of PPARα, δ, and γ gene polymorphisms with low-density lipoprotein-cholesterol in a Chinese Han population
Q46046874Association between -1562C>T polymorphism in the promoter region of matrix metalloproteinase-9 and coronary artery disease: a meta-analysis
Q85781257Association between ADAM33 polymorphisms and susceptibility with adult and childhood asthma among Jordanians
Q48189747Association between BDNF gene polymorphisms and attention deficit hyperactivity disorder in Korean children
Q85784790Association between CRP gene polymorphisms and the risk of preeclampsia in Han Chinese women
Q50728089Association between HTR1A gene polymorphisms and attention deficit hyperactivity disorder in Korean children.
Q37686215Association between IHC and MSI testing to identify mismatch repair-deficient patients with ovarian cancer
Q38170394Association between IL-6-174G/C polymorphism and risk of multiple sclerosis: a meta-analysis
Q37067012Association between NFKB1 -94 insertion/deletion ATTG polymorphism and risk of intracranial aneurysm
Q37277660Association between TGF-β1 polymorphisms and hepatocellular carcinoma risk: a meta-analysis
Q50720238Association between TPH2 gene polymorphisms and attention deficit hyperactivity disorder in Korean children.
Q34779809Association between adiponectin polymorphisms and the risk of colorectal cancer
Q51834921Association between catechol-O-methyltransferase gene polymorphism and attention-deficit hyperactivity disorder in Korean population.
Q54363934Association between cholesteryl ester transfer protein TaqIB variants and risk of coronary artery disease and diabetes mellitus in the population of western Iran.
Q38110911Association 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
Q45019380Association between dopamine Beta-hydroxylase gene polymorphisms and attention-deficit hyperactivity disorder in korean children
Q38917455Association between four resistin polymorphisms, obesity, and metabolic syndrome parameters in Tunisian volunteers
Q36308212Association between gene expression of metabolizing enzymes and esophageal squamous cell carcinomas in China
Q86027990Association between genetic variants of DNA repair genes and coronary artery disease
Q34893448Association between insulin-like growth factor binding protein-3 promoter polymorphism of -1590 C>A and lung cancer susceptibility in a Chinese Han population
Q38390131Association between interleukin-10-3575T>A (rs1800890) polymorphism and cancer risk
Q26852408Association between interleukin-6 gene polymorphisms and bone mineral density: a meta-analysis
Q33887921Association between monoamine oxidase gene polymorphisms and attention deficit hyperactivity disorder in Korean children
Q43572601Association between polymorphism of the tumor necrosis factor alpha-308 gene promoter and colon cancer in the Chinese population
Q54378991Association between polymorphisms in MTHFR and APOA5 and metabolic syndrome in the Greek population.
Q35098078Association between six genetic polymorphisms and colorectal cancer: a meta-analysis
Q53462400Association between the ABCA1-565C/T gene promoter polymorphism and coronary heart disease severity and cholesterol efflux in the Chinese Han population.
Q47909574Association between the ACTN3 R577X polymorphism and artistic gymnastic performance in Italy
Q34643050Association between the CTLA-4 +49A/G polymorphism and type 1 diabetes: a meta-analysis
Q86692640Association between the LCE3C_LCE3B deletion polymorphism and susceptibility to psoriasis: a meta-analysis of published studies
Q34252703Association between the MTHFR C677T polymorphism and recurrent pregnancy loss: a meta-analysis.
Q82610474Association between the PPARG gene polymorphism and the risk of diabetic nephropathy: a meta-analysis
Q37067030Association between the XRCC6 Promoter rs2267437 polymorphism and cancer risk: evidence based on the current literature
Q54779795Association between the c.3073A>C genetic polymorphism of the MDR1 gene and susceptibility to gastric cancer in the Chinese Han population.
Q87130600Association between the g.14461A>G genetic polymorphism of the TLR4 gene and type 2 diabetes mellitus risk in a Chinese population
Q37944347Association between tumor necrosis factor-α-308G/A polymorphism and obstructive sleep apnea: a meta-analysis
Q47781323Association between two functional fibrinogen-related polymorphisms and ischemic stroke: a case-control study
Q84611929Association between vascular endothelial growth factor + 936 genotype and acute respiratory distress syndrome in a Chinese population
Q54394493Association of (GT)n repeats promoter polymorphism of heme oxygenase-1 gene with serum bilirubin levels in healthy Indian adults.
Q37190353Association of -2518A>G promoter polymorphism in the monocyte chemoattractant protein-1 (MCP-1) gene with type 2 diabetes and coronary artery disease
Q36638595Association of -2549 insertion/deletion polymorphism of vascular endothelial growth factor with breast cancer in North Indian patients.
Q51566333Association of 1166A>C AT1R, -1562C>T MMP-9, ACE I/D, and CCR5Δ32 Polymorphisms with Abdominal Aortic Aneurysm in Croatian Patients.
Q103737521Association of ABCB1 and CYP450 Gene Polymorphisms and their DNA Methylation Status with Steroid-Induced Osteonecrosis of the Femoral Head in the Chinese Population
Q53833458Association of ACE and MDR1 Gene Polymorphisms with Steroid Resistance in Children with Idiopathic Nephrotic Syndrome.
Q84042729Association of ADRB1 gene polymorphism with atrial fibrillation
Q91727559Association of AMPK Pathway-Related Gene Polymorphisms with Symptomatic Intracranial Atherosclerotic Stenosis in a Chinese Han Population
Q91955823Association of ARID5B and IKZF1 Variants with Leukemia from Northern India
Q38887355Association of Angiotensin-Converting Enzyme ACE Gene Polymorphism with ACE Activity and Susceptibility to Vitiligo in Egyptian Population.
Q87066095Association of Apolipoprotein A5 Gene Polymorphisms with Metabolic Syndrome in the Korean Population
Q47586572Association of Apolipoprotein E Polymorphism with Impact on Overweight University Pupils
Q91070304Association 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
Q50560856Association of CCR2 (+190 G/A) Gene Variants and Ovarian Cancer Severity.
Q35888677Association of CD36 gene variants and metabolic syndrome in Iranians
Q52551349Association of Common Variants in TGFA with Increased Risk of Knee Osteoarthritis Susceptibility.
Q39380555Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt
Q90871980Association of Desmin Gene Variant rs1058261 with Cardiovascular Disease, the TAMRISK Study
Q54265508Association of E-cadherin single-nucleotide polymorphisms with the increased risk of breast cancer: a study in South Indian women.
Q46478433Association of EGFR and HER2 polymorphisms with risk and clinical features of thyroid cancer
Q89187013Association of EPHA3 Gene Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate
Q55060070Association of Endothelial Nitric Oxide Synthase Gene Polymorphism with Susceptibility and Nephritis Development of Henoch-Schönlein Purpura in Chinese Han Children.
Q41719178Association of Epstein Barr virus A73 gene polymorphism with nasopharyngeal carcinoma
Q92388349Association of Foxp3 and TGF-β1 Polymorphisms with Pre-Eclampsia Risk in Chinese Women
Q35093028Association of GCK -30G> a polymorphism with gestational diabetes mellitus and type 2 diabetes mellitus risk: a meta-analysis involving 18 case-control studies
Q36979538Association of GSTM1 and GSTT1 genes with the susceptibility to male infertility: result from a meta-analysis
Q92656536Association of Gene Polymorphisms in the Human MicroRNA-126 Gene with Plasma-Circulating MicroRNA-126 Levels and Acute Myocardial Infarction
Q100481083Association of Genetic Variation in a Wnt Signaling Pathway Gene (β-Catenin) with Susceptibility to Leukoaraiosis
Q90613448Association of High Mobility Group Box Protein B1 Gene Polymorphisms with Pneumonia Susceptibility and Severity
Q38811266Association of IL-10-1082A/G Polymorphism with Ischemic Stroke: Evidence from a Case-Control Study to an Updated Meta-Analysis
Q91930524Association of IL-13, S100B, and TLR-7 Gene Polymorphisms with Enterovirus 71 Infection in Hand, Foot, and Mouth Disease in China
Q36104073Association of IL-6 Promoter and Receptor Polymorphisms with Multiple Myeloma Risk: A Systematic Review and Meta-Analysis
Q39631705Association of Insulin-Like Growth Factor-1 Gene Polymorphisms with Different Types of Myopia in Egyptian Patients
Q86837655Association of Irisin and CRP Levels with the Radiographic Severity of Knee Osteoarthritis
Q41667962Association of KCNE1 genetic polymorphisms with atrial fibrillation in a Chinese Han population
Q93060337Association of Killer Immunoglobulin-Like Receptor and Human Leukocyte Antigen Class I Ligand with Recurrent Abortion in Saudi Women
Q51812846Association of Leukocyte Telomere Length and Mitochondrial DNA Copy Number in Children from Salamanca, Mexico.
Q94510778Association of Long-Chain Noncoding RNA H19 and MEG3 Gene Polymorphisms and Their Interaction with Risk of Osteoarthritis in a Chinese Han Population
Q54309866Association of MMP3-1171(5A>6A) polymorphism with lung cancer in Lebanon.
Q55059750Association of MSX1 c.*6C > T Variant with Nonsyndromic Cleft Lip With or Without Cleft Palate in Turkish Patients.
Q51566570Association of Matrilin-3 Gene Polymorphism with Temporomandibular Joint Internal Derangement.
Q39079146Association of Methylenetetrahydrofolate Reductase C677T and Cystathionine β-Synthase Polymorphisms in Cardiovascular Disease in the Algerian Population
Q104610700Association of Multiple Dopamine D3 Receptor Gene 3'UTR Polymorphisms with Susceptibility to Parkinson's Disease and Clinical Efficacy of Piribedil Therapy
Q34283906Association of NCAM1 polymorphisms with autism and parental age at conception in a Chinese Han population
Q38129113Association of P2X7 A1513C (rs3751143) gene polymorphism with risk of tuberculosis: evidence from a meta-analysis.
Q91220254Association of PAI-1 4G/5G Polymorphism with Ischemic Stroke in Chinese Patients with Type 2 Diabetes Mellitus
Q38852803Association 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
Q91247543Association of PAR-2 Gene Polymorphisms with the Inflammatory Response and Susceptibility to Knee Osteoarthritis in the Chinese Han Population
Q54381143Association of PON1 and APOA5 gene polymorphisms in a cohort of Indian patients having coronary artery disease with and without type 2 diabetes.
Q89166809Association of Polymorphisms in CYBA, SOD1, and CAT Genes with Type 1 Diabetes and Diabetic Peripheral Neuropathy in Children and Adolescents
Q36601860Association of Polymorphisms in Endothelial Nitric Oxide Synthesis and Renin-Angiotensin-Aldosterone System with Developing of Coronary Artery Disease in Bulgarian Patients.
Q40859196Association of Pre-miRNA-499 rs3746444 and Pre-miRNA-146a rs2910164 Polymorphisms and Susceptibility to Behcet's Disease
Q64985107Association of RETN and CAP1 SNPs, Expression and Serum Resistin Levels with Breast Cancer in Mexican Women.
Q54312918Association of S549N and IVS8-5T splice variants with bronchial asthma and its severity in Indian children.
Q87476226Association of SNP (-G1082A) IL-10 with increase in severity of periportal fibrosis in schistosomiasis, in the northeast of Brazil
Q89935410Association of Serum Lipoprotein-Associated Phospholipase A2 and A379V Gene Polymorphisms with Carotid Plaques
Q96227670Association of Single Nucleotide Polymorphisms of the IL-6, IL-10, and TNF-α Genes with Susceptibility to Gestational Diabetes Mellitus
Q40191269Association of Single-Nucleotide Polymorphism in the Hepcidin Promoter Gene with Susceptibility to Extrapulmonary Tuberculosis
Q37009393Association of TCF7L2 and ADIPOQ with body mass index, waist-hip ratio, and systolic blood pressure in an endogamous ethnic group of India
Q43259056Association of TLR4 single-nucleotide polymorphisms and sarcoidosis in Greek patients.
Q50984129Association of Three Single Nucleotide Polymorphisms in MTR and MTRR Genes with Lung Cancer in a Turkish Population.
Q53879294Association of V249I and T280M polymorphisms in the chemokine receptor CX3CR1 gene with early onset of coronary artery disease among North Indians.
Q92842758Association of VAMP8 rs1010 Polymorphism with Host Susceptibility to Pulmonary Tuberculosis in a Chinese Han Population
Q54401128Association of Vascular Endothelial Growth Factor -2578C/A Gene Polymorphism in Chinese Patients with Colon Cancer
Q34112144Association of Wnt1/beta-catenin with clinical pathological characteristics and prognosis of esophageal squamous cell carcinoma
Q35008061Association of XPC gene polymorphisms with susceptibility to prostate cancer: evidence from 3,936 subjects
Q38918144Association of ZAP70 and PTPN6, but Not BANK1 or CLEC2D, with inflammatory bowel disease in the Tunisian population.
Q88783762Association of a Chromosome Locus 9p21.3 CDKN2B-AS1 Variant rs4977574 with Hypertension: The TAMRISK Study
Q34780169Association of a methylene tetrahydrofolate reductase C677T polymorphism with several blood chemical levels in a Chinese population
Q83861058Association of a single-nucleotide polymorphism in the promoter region of the VEGF gene with the risk of renal cell carcinoma
Q54303639Association of androgen receptor, prostate-specific antigen, and CYP19 gene polymorphisms with prostate carcinoma and benign prostatic hyperplasia in a north Indian population.
Q84298135Association of angiotensin I converting enzyme polymorphism as genetic risk factor in benign prostatic hyperplasia and prostate cancer
Q82610188Association of angiotensin converting enzyme (insertion/deletion) gene polymorphism with essential hypertension in northern Indian subjects
Q54308566Association of epidermal growth factor +61 A/G polymorphism in Chinese patients with colon cancer.
Q37067080Association 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
Q45207506Association of estrogen receptor alpha gene polymorphisms and risk of fracture
Q54323031Association 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.
Q37143059Association of genetic polymorphisms in matrix metalloproteinase-9 and coronary artery disease in the Chinese Han population: a case-control study
Q34780200Association of genetic polymorphisms of EGFR with glioma in a Chinese population
Q37398193Association of genetic polymorphisms with warfarin dose requirements in Chinese patients
Q33705688Association of genetic variation of sodium taurocholate cotransporting polypeptide with chronic hepatitis B virus infection
Q39135631Association of genetic variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 diabetes mellitus in Tunisia.
Q37460212Association of glutathione S-transferase P1 (GSTP1) polymorphism with Tourette syndrome in Taiwanese patients
Q83318754Association of heme oxygenase-1 gene polymorphisms with essential hypertension and blood pressure in the Chinese Han population
Q84418841Association of interleukin-10 gene promoter polymorphism in allergic patients
Q82784670Association of interleukin-10-1082 G/G genotype with lower mortality of acute respiratory distress syndrome in a Chinese population
Q46328500Association of interleukin-6 -174 G>C promoter polymorphism with increased risk of type 2 diabetes mellitus patients with diabetic nephropathy in Turkey
Q39628362Association of killer cell immunoglobulin-like receptor and human leukocyte antigen-C genotype with dry eye disease in a Chinese Han population
Q35181540Association of luteinizing hormone chorionic gonadotropin receptor gene polymorphism (rs2293275) with polycystic ovarian syndrome
Q83038467Association of methylene tetrahydrofolate reductase C677T genotype with type 2 diabetes mellitus patients with and without renal complications
Q47731746Association of nicotinamide-N-methyltransferase gene rs694539 variant with patients with nonalcoholic steatohepatitis
Q38120826Association of p53 Arg72Pro polymorphism with esophageal cancer: a meta-analysis based on 14 case-control studies
Q45803407Association of paraoxonase1 gene Q192R polymorphism and apolipoprotein B in Asian Indian women with coronary artery disease risk
Q44580247Association of peroxisome proliferator-activated receptor γ polymorphisms and haplotypes with essential hypertension
Q102049616Association of rs2862851 in TGFA Gene with Peripheral TGFA Levels and the Severity of Knee Osteoarthritis in the Han Chinese Population
Q46437061Association of rs4331426 and rs2057178 with Risk of Tuberculosis: Evidence from a Meta-Analysis
Q86188750Association of rs7041 and rs4588 Polymorphisms of the Vitamin D Binding Protein and the rs10741657 Polymorphism of CYP2R1 with Vitamin D Status Among Jordanian Patients
Q24658281Association of smoking behavior with an odorant receptor allele telomeric to the human major histocompatibility complex
Q54164665Association of survivin promoter polymorphisms with inflammatory bowel disease and response to antitumor necrosis factor therapy.
Q96581336Association of the -629C>A (rs1800775) CETP Polymorphism with the Development of Essential Hypertension in Mexican Population
Q100532527Association of the 5HTTLPR Polymorphism with Obesity in Mexican Women with High Native American Ancestry
Q52944954Association of the ACE I/D gene polymorphisms with JAK2V617F-positive polycythemia vera and essential thrombocythemia.
Q36789363Association of the C677T polymorphism in the MTHFR gene with hemorrhagic stroke: a meta-analysis
Q38904216Association of the C677T polymorphism in the human methylenetetrahydrofolate reductase (MTHFR) gene with the genetic predisposition for type 2 diabetes mellitus in a Moroccan population
Q81202963Association of the CALM1 core promoter polymorphism with knee osteoarthritis in patients of Greek origin
Q91797093Association of the Collagen Type IV Alpha 1 Chain Gene rs3783107 GG Genotype with Hypertension, Asthma, and Eczema: The Tampere Adult Population Cardiovascular Risk Study
Q51759786Association 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.
Q96692441Association of the Genetic Polymorphisms rs6259 and rs727428 of the SHBG Gene with Polycystic Ovary Syndrome Risk: A Meta-Analysis
Q100380505Association of the IL-1B rs1143623 Polymorphism and Cancer Risk: A Meta-Analysis
Q89342909Association of the Interleukin-6 rs1800795 Polymorphism with Type 2 Diabetes Mellitus in the Population of the Island of Crete, Greece
Q41083784Association of the Polymorphism in Nucleobindin 2 Gene and the Risk of Metabolic Syndrome
Q85395737Association of the Polymorphism of TRAIL with the Risk and Severity of Lumbar Disc Degeneration in Chinese Han Population
Q43109650Association of the polymorphisms of vitamin D receptor and aggrecan genes with degenerative disc disease
Q36476775Association of uridine diphosphate-glucuronosyltransferase 2B gene variants with serum glucuronide levels and prostate cancer risk
Q53266828Association of vitamin D receptor gene polymorphisms with colon cancer.
Q30400805Association of β-Secretase Functional Polymorphism with Risk of Schizophrenia.
Q43999003Association study between apolipoprotein E gene polymorphism and diabetic nephropathy in a Taiwanese population
Q43736114Association study between the polymorphisms of the fat mass- and obesity-associated gene with the risk of intervertebral disc degeneration in the Han Chinese population
Q39118243Association study of MICA-TM polymorphism with inflammatory bowel disease in the South Tunisian population
Q36041685Association study of apolipoprotein L-I Lys166Glu and Ile244Met gene variants with obesity in Chinese subjects
Q28236311Association study of human VN1R1 pheromone receptor gene alleles and gender
Q46954720Association study of three microsatellite polymorphisms located in introns 1, 8, and 9 of DISC1 with schizophrenia in the Chinese Han population
Q38380599Associations Among Glutathione S-Transferase T1, M1, and P1 Polymorphisms and the Risk of Oral Leukoplakia
Q90120782Associations Between Genetic Polymorphisms in the VEGFA, ACE, and SOD2 Genes and Susceptibility to Diabetic Nephropathy in the Han Chinese
Q93070767Associations Between IL-10 Polymorphisms and Susceptibility to Melanoma, Basal Cell Carcinoma, and Squamous Cell Carcinoma: A Meta-Analysis
Q90026663Associations Between MTR A2756G, MTRR A66G, and TCN2 C776G Polymorphisms and Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate: A Meta-Analysis
Q89342903Associations Between TP53 and MDM2 Polymorphisms and the Follicle-Stimulating Hormone/Luteinizing Hormone Ratio in Infertile Women
Q52692896Associations Between Three CTLA-4 Polymorphisms and Hashimoto's Thyroiditis Risk: An Updated Meta-Analysis with Trial Sequential Analysis.
Q46217684Associations between TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis
Q40117053Associations between anticipated reactions to genetic test results and interest in genetic testing: will self-selection reduce the potential for harm?
Q36889798Associations between single-nucleotide polymorphisms and epidural ropivacaine consumption in patients undergoing breast cancer surgery
Q94935363Associations of Common Single Nucleotide Polymorphisms in miR-34b/c and miR-499 with Male Infertility Caused by Oligospermia or Azoospermia in the Chinese Population
Q88328754Associations of IL-1, 6, and 10 Gene Polymorphisms with Susceptibility to Recurrent Aphthous Stomatitis: Insights from a Meta-Analysis
Q54150356Associations of MicroRNA Polymorphisms (miR-146a, miR-196a2, and miR-499) with the Risk of Hypertension in the Korean Population.
Q51347144Associations of TNFα-308G/A and TNFα-238G/A Polymorphisms with Ischemic Stroke in East Asians and Non-East Asians: A Meta-Analysis.
Q38131082Associations of interleukin-4 receptor gene polymorphisms (Q551R, I50V) with rheumatoid arthritis: evidence from a meta-analysis.
Q54352610Associations 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.
Q33918807Associations of the single-nucleotide polymorphisms of the Mina gene with the development of asthma in Chinese Han children: a case-control study
Q78178521Asymptomatic Gaucher disease implications for large-scale screening
Q80521251Attitude toward genetic testing for cancer risk in Istanbul
Q60636521Attitudes Toward Genetic Testing in Patients At Risk for HNPCC/FAP and the German Population
Q91255906Attitudes Toward Psychiatric Genetic Testing and Research: A Comparative Study Between Denmark and Cuba
Q80521215Attitudes about and psychosocial outcomes of HFE genotyping for hemochromatosis
Q36789414Attitudes about regulation among direct-to-consumer genetic testing customers
Q48269180Attitudes and anticipated reactions to genetic testing for cancer among patients in Mexico City
Q46077316Attitudes 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
Q51022938Attitudes and knowledge about presymptomatic genetic testing among individuals at high risk for familial, early-onset Alzheimer's disease.
Q38816067Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.
Q40162123Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening
Q53039766Attitudes to genetic testing in families with multiple cases of bipolar disorder.
Q42646068Attitudes toward genetic testing for cancer risk after genetic counseling and decision support: a qualitative comparison between hereditary cancer types
Q49009133Attitudes toward genetic testing in a german population
Q36789382Audiologic and genetic features of the A3243G mtDNA mutation
Q88089309Authors' Response to Wong et al
Q57250763Automated Detection of Prevalent Mutations in BRCA1 and BRCA2 Genes, Using a Fluorogenic PCR Allelic Discrimination Assay
Q73356717Automated, PCR-RFLP genotyping of the urokinase gene
Q81693420Automatic scanning of interphase FISH for prenatal diagnosis in uncultured amniocytes
Q33828345Awareness and uptake of direct-to-consumer genetic testing among cancer cases, their relatives, and controls: the Northwest Cancer Genetics Network
Q85841217BCR-ABL1 kinase domain mutation analysis in an Irish cohort of chronic myeloid leukemia patients
Q54323882BHMT G742A and MTHFD1 G1958A polymorphisms and Down syndrome risk in the Brazilian population.
Q36553981BORIS, brother of the regulator of imprinted sites, is aberrantly expressed in hepatocellular carcinoma
Q47805719BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and ovarian cancer
Q80521224BRCA1 mutations in a population-based study of breast cancer in Stockholm County
Q78178731BRCA1 screening in patients with a family history of breast or ovarian cancer
Q56904426BRCA1/2 in high-risk African American women with breast cancer: providing genetic testing through various recruitment strategies
Q64044812BRCA2 gene mutations in Slovenian male breast cancer patients
Q82916521Barriers to genetic testing among persons at risk for alpha-1 antitrypsin deficiency
Q83658962Beast of Burden? Comments on the NIH Genetic Testing Registry
Q36368484Benefits and Risks of Sharing Genomic Information
Q99410373Beyond Cultural Competency Training and Diversity and Inclusion Statements: The Quality of Genetic Testing for Asian Americans
Q57640577Beyond Recommendation: Requiring Returning Findings to Research Participants
Q48390051Beyond genetic tests and biomarkers: what about therapeutic misconception?
Q73535673Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes
Q46455225Bilateral transverse sinus thrombosis secondary to a homozygous C677T MTHFR gene mutation
Q40290061Biobanking: Where Science and Society Meet
Q51470069Biochip-Based Genotyping Assay for Detection of Polymorphisms in Pigmentation Genes Associated with Cutaneous Melanoma.
Q90334078Bioinformatic Analysis Reveals Novel Immune-Associated Hub Genes in Human Membranous Nephropathy
Q36966491Bipartisan Genetic Research Privacy Protection Act Introduced
Q54494974Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene.
Q37587913Bisphosphonates and risk of subtrochanteric, femoral shaft, and atypical femur fracture: sensitivity and trim and fill studies
Q28143175Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing
Q78178566Breast cancer susceptibility testing: Part 1
Q80757040Buccal cell DNA extraction: yield, purity, and cost: a comparison of two methods
Q38134767C-reactive protein gene polymorphisms and myocardial infarction risk: a meta-analysis and meta-regression
Q47367568C/EBPβ Promotion of MMP3-Dependent Tumor Cell Invasion and Association with Metastasis in Colorectal Cancer
Q35967014C677T and A1298C polymorphisms of MTHFR gene and their relation to homocysteine levels in Turner syndrome
Q92997228CCAAT/Enhancer Binding Protein β-Mediated MMP3 Upregulation Promotes Esophageal Squamous Cell Cancer Invasion In Vitro and Is Associated with Metastasis in Human Patients
Q48000952CCR5-Delta32 allele frequencies in Ashkenazi Jews
Q54178160CD36 gene variants in early prediction of type 2 diabetes mellitus.
Q39157440CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening
Q47281958COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.
Q93210521CRISPR-Cas9: New Heights, New Hesitations
Q40516249CRP/IL-6/IL-10 Single-Nucleotide Polymorphisms Correlate with the Susceptibility and Severity of Community-Acquired Pneumonia
Q38850166CTLA-4 +49 G/A Polymorphism Confers Autoimmune Disease Risk: An Updated Meta-Analysis
Q36638561CTLA-4 polymorphisms and systemic lupus erythematosus: a comprehensive meta-analysis
Q56900397CTLA4 gene polymorphisms in children and adolescents with autoimmune thyroid diseases
Q34814581CYP1A1 gene polymorphisms and polycystic ovary syndrome risk: a meta-analysis and meta-regression
Q83562316CYP1A1, CYP2E1, and GSTM1 gene polymorphisms and susceptibility to colorectal and gastric cancer among Lebanese
Q56971150CYP2B6 gene single-nucleotide polymorphisms in an Italian population sample and relationship with nicotine dependence
Q54274861CYP2C8 polymorphism frequencies among Han, Uighur, Hui, and Mongolian Chinese populations.
Q39401669CYP2C9 and CYP2C19 Allele and Haplotype Distributions in Four Mestizo Populations from Western Mexico: An Interethnic Comparative Study.
Q46970144CYP2C9 and VKORC1 polymorphisms are differently distributed in the Brazilian population according to self-declared ethnicity or genetic ancestry
Q46448217CYP2D6 genotyping in natives and immigrants from the Emilia-Romagna Region (Italy).
Q47580059CYP2J2 -50 G/T and ADRB2 G46A gene polymorphisms in Saudi subjects with hypertension
Q49967487CYP3A Activity and Rivaroxaban Serum Concentrations in Russian Patients with Deep Vein Thrombosis
Q44671253Calcium release from sarcoplasmic reticulum is facilitated in human myotubes derived from carriers of the ryanodine receptor type 1 mutations Ile2182Phe and Gly2375Ala
Q51698530Calpain 10 SNP-44 gene polymorphism affects susceptibility to type 2 diabetes mellitus and diabetic-related conditions.
Q33721302Canavan disease: diagnosis and molecular analysis
Q34112137Cancer genetic risk assessment and referral patterns in primary care
Q80974235Cancer genetics evaluation: barriers to and improvements for referral
Q56996395Cancerous tissues in forensic genetic analysis
Q51068988Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.
Q45872076Candidate gene analyses by scanning or brute force fluorescent sequencing: a comparison of DOVAM-S with gel-based and capillary-based sequencing
Q38877395Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children
Q38857090Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population
Q37687779Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population
Q41872699Carrier rates of four single-gene disorders in Croatian Bayash Roma
Q45131122Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates
Q73834635Carrier screening for Gaucher disease in couples of mixed ethnicity
Q81158888Carrier screening for beta-thalassemia during pregnancy in India: a 7-year evaluation
Q34364674Carrier screening for cystic fibrosis among Maryland obstetricians before and after the 1997 NIH Consensus Conference
Q49058847Carrier screening for cystic fibrosis in a prenatal setting
Q40783090Carrier testing of children for two X-linked diseases: a retrospective evaluation of experience and satisfaction of subjects and their mothers
Q90774431Carrying the T Allele of the SNP rs574344, an eQTL of GSTM1, Contributes to Longevity in the Han Chinese Population
Q90333947Cartilage Oligomeric Matrix Protein Levels in Type 2 Diabetes Associated with Primary Knee Osteoarthritis Patients
Q30643379Case-specific, breakpoint-spanning DNA probes for analysis of single interphase cells
Q51853185Catechol-O-methyltransferase gene polymorphisms are not associated with multisomatoform disorder in a group of German multisomatoform disorder patients and healthy controls.
Q33721336Caught in the middle again: professional ethical considerations in genetic testing for health risks
Q39203500Cell line identity finding by fingerprinting, an optimized resource for short tandem repeat profile authentication
Q47663147Celtic origin of the C282Y mutation of hemochromatosis
Q46048831Central retinal vein occlusion secondary to clomiphene treatment in a male carrier of factor V Leiden
Q80521210Certificates of confidentiality
Q35877556Certificates of confidentiality in research: rationale and usage
Q40089999Changing of the Guard at GTMB.
Q43926476Characteristics of dystrophin gene mutations among Chinese patients as revealed by multiplex ligation-dependent probe amplification
Q59548809Characterization of Common BRCA1 and BRCA2 Variants
Q128998276Characterization of Prognostic Apoptosis-Related Gene Signature to Evaluate Glioma Immune Microenvironment and Experimental Verification
Q54394490Characterization of Y-chromosomal short tandem repeat markers in Pakistani populations.
Q73535693Characterization of a novel D1S80 pseudoallele
Q34121260Characterization of an interstitial deletion del(13)(q22q32) using microdissection and sequential FISH and G-banding
Q47355683Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25.
Q54560284Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.
Q78178615Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease
Q47730723Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia
Q80521229Characterization of two novel BRCA1 germ-line mutations involving splice donor sites
Q54288070Childhood obesity and the role of dopamine D2 receptor and cannabinoid receptor-1 gene polymorphisms.
Q46728110Cholesterol 7alpha-hydrolase (CYP7A1) c.-278A>C promoter polymorphism in gallstone disease patients
Q42924066Cholesteryl Ester Transfer Protein Taq1B Polymorphism in an Angiographically Assessed Turkish Population: No Effects on Coronary Artery Disease Risk
Q44274019Chromogenic Assay for Lung Cancer-Related EGFR Exon 19 Hotspot Deletion Mutations
Q37773991Chromosomal distribution of disease genes in the human genome
Q28187093Chromosome 10
Q28143438Chromosome 13
Q83626446Chromosome 15q21-22-related polymorphisms and haplotypes are associated with susceptibility to type-2 diabetic nonproliferative retinopathy
Q28190289Chromosome 5
Q28204222Chromosome 6
Q28221244Chromosome 7
Q28215137Chromosome 8
Q39927263Chromosome instability in patients with chronic renal failure
Q90769115Circular RNAs as Diagnostic Biomarkers for Osteoarthritis
Q47782651Circulating Long Noncoding RNAs as Potential Biomarkers of Sepsis: A Preliminary Study.
Q45892221Circulating miRNA-20a and miRNA-203 for screening lymph node metastasis in early stage cervical cancer
Q104514696Clinical Effect of Driver Mutations of KRAS, CDKN2A/P16, TP53, and SMAD4 in Pancreatic Cancer: A Meta-Analysis
Q91538512Clinical Exome Sequencing Identifies a Frameshift Mutation Within the STRC Gene in a United Arab Emirates Family with Profound Nonsyndromic Hearing Loss
Q96770186Clinical Exome Sequencing Identifies a Novel Mutation of the GREB1L Gene in a Chinese Family with Renal Agenesis
Q104139155Clinical Significance of POM121 Expression in Lung Cancer
Q38844665Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations
Q35376490Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes
Q74741445Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: a survey of genetic counseling practice
Q84454284Clinical relevance of vitamin C among lead-exposed infertile men
Q45211692Clinical significance of cyclophilin a expression in esophageal squamous cell carcinoma
Q38446472Clinical, 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
Q92274971Clinicopathologic Features and the Prognostic Implications of Long Noncoding RNA HOTAIRM1 in Non-Small Cell Lung Cancer
Q90869814Clinicopathological Significance of Decreased Expression of the Tumor Inhibitor Gene PDCD5 in Osteoclastoma
Q100378671Clinicopathological and Prognostic Role of Programmed Cell Death-1 in Patients with Hepatocellular Carcinoma: A Systematic Review and Meta-Analysis
Q77962869Closing the gaps in genetics legislation and policy: a report by the new york state task force on life and the law
Q54781801Co-occurrence of sporadic parkinsonism and late-onset Alzheimer's disease in a Brazilian male with the LRRK2 p.G2019S mutation.
Q97891254Coexistence of Fragile-X Syndrome, 8p23.1 Deletion, and Balanced Translocation t(7;10)(p10;q24) in a Single Family
Q64043447Collaboration: the foundation for success in rare disease genetic test development
Q54238064Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.
Q37196260Colorectal cancer cases and relatives of cases indicate similar willingness to receive and disclose genetic information.
Q36041678Colorectal cancer survivors' interest in genetic testing for hereditary cancer: implications for universal tumor screening
Q81468032Combination of Hb Knossos [Cod 27 (G-T)] and IVSII-745 (C-G) in a Turkish patient with beta-thalassemia major
Q58193533Combinatorial Sequencing-by-Hybridization: Analysis of the NF1 Gene
Q73834612Combine-ARMS: a rapid and cost-effective protocol for molecular characterization of beta-thalassemia in Malaysia
Q58193536Combined Test for UGT1A1 –3279T→G and A(TA)nTAA Polymorphisms Best Predicts Gilbert's Syndrome in Italian Pediatric Patients
Q84431107Combined 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
Q43265639Combined hepatic lipase -514C/T and cholesteryl ester transfer protein I405V polymorphisms are associated with the risk of coronary artery disease
Q85082187Come together, right now!
Q51963732Comment: How many are too many when discussing triplet repeats in the FMR1 gene and the Fragile X syndrome?
Q79733841Commentary: considering family covenants
Q83107079Common European mitochondrial haplogroups in the risk for psoriasis and psoriatic arthritis
Q44590504Common Mediterranean fever gene mutations in the Azeri Turkish population of Iran
Q85380737Common RASGRP1 Gene Variants That Confer Risk of Type 2 Diabetes
Q52371678Common Variants in ALPL Gene Contribute to the Risk of Kidney Stones in the Han Chinese Population.
Q98154861Common Variants in ARG1 Gene Contributed to the Risk of Dilated Cardiomyopathy in the Han Chinese Population
Q45970795Common genetic polymorphisms in the ABCB1 gene are associated with risk of major depressive disorder in male Portuguese individuals.
Q54292606Common genetic variants of the BMP4, BMPR1A, BMPR1B, and ACVR1 genes, left ventricular mass, and other parameters of the heart in newborns.
Q35115381Common polymorphisms in the interleukin-6 gene and myocardial infarction risk: a meta-analysis
Q78178497Communicating chromosome rearrangements and their outcomes using simple computer-generated color ideograms
Q42622464Communicating familial hypercholesterolemia genetic information within families
Q38097962Companion diagnostic testing for targeted cancer therapies: an overview
Q50240192Companion diagnostics: the next step in personalized clinical care.
Q87791438Companions: tests and drug for better healthcare
Q82206100Comparative study of three PCR-based copy number variant approaches, CFMSA, M-PCR, and MLPA, in 22q11.2 deletion syndrome
Q81468062Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification
Q50738010Comparison between the polymerase chain reaction-based screening and the Southern blot methods for identification of fragile X syndrome.
Q47855430Comparison of KRAS mutation tests in colorectal cancer patients.
Q48001033Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy.
Q47222360Comparison of Suitability of the Most Common Ancient DNA Quantification Methods
Q81352522Comparison 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
Q78178622Comparison of enzyme mismatch cleavage and chemical cleavage of mismatch on a defined set of heteroduplexes
Q40806863Comparison of the Artus RotorGene and COBAS Ampliprep/COBAS TaqMan Platforms for the Detection of Cytomegalovirus: Experience of a Tertiary Care Center
Q43265114Comparison of the cytogenetic and molecular analyses in the assessment of imatinib response in chronic myelocytic leukemia
Q87053562Comparison 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
Q40425885Comparison of the results of PCR-RFLP and reverse hybridization methods used in molecular diagnosis of FMF.
Q80080603Comparison of the validity of preimplantation genetic diagnosis for embryo chromosomal anomalies by fluorescence in situ hybridization on one or two blastomeres
Q43880314Complement factor H variant p.Y402H in pseudoxanthoma elasticum patients
Q84360869Complete FXN deletion in a patient with Friedreich's ataxia
Q51963734Compound heterozygosity at the FMR1 gene.
Q93097997Comprehensive Evaluation of the Factors Affecting Plasma Circulating Cell-Free DNA Levels and Their Application in Diagnosing Nonsmall Cell Lung Cancer
Q40330607Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a "heterozygote advantage" in Turkey?
Q44891502Comprehensive analysis of genetic polymorphisms in the interleukin-10 promoter: implications for immune regulation in specific ethnic populations
Q38226935Comprehensive evaluation of the cytotoxic T-lymphocyte antigen-4 gene polymorphisms in risk of bone sarcoma
Q78823851Comprehensive genetic counseling for families at risk for HNPCC: impact on distress and perceptions
Q46534565Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography
Q36107840Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns
Q38381786Confidentiality in Biobanking Research: A Comparison of Donor and Nondonor Families' Understanding of Risks
Q50492722Connexin-26 gene analysis in hearing-impaired newborns.
Q50482902Connexin-30 deletion analysis in connexin-26 heterozygotes.
Q51032532Considerations and recommendations for a new molecular diagnostic algorithm for the myeloproliferative neoplasms.
Q42697686Considering the Benefits and Risks of Research Participants' Access to Sequence Data
Q54636241Constitutional and somatic RB1 mutation spectrum in nonfamilial unilateral and bilateral retinoblastoma in India.
Q84418838Consumer perceptions of genetic testing
Q36225319Consumer perspectives on genetic testing for psychiatric disorders: the attitudes of veterans with posttraumatic stress disorder and their families
Q33888377Contrasting the ethical perspectives of biospecimen research among individuals with familial risk for hereditary cancer and biomedical researchers: implications for researcher training.
Q39247237Contribution of JAK2 and STAT3 variants to the genetic susceptibility of recurrent spontaneous miscarriage in a Tunisian population.
Q38901718Contribution of eNOS variants to the genetic susceptibility of coronary artery disease in a Tunisian population.
Q39201467Contributions of IKZF1, DDC, CDKN2A, CEBPE, and LMO1 Gene Polymorphisms to Acute Lymphoblastic Leukemia in a Yemeni Population
Q33978777Coordination of TP53 abnormalities in breast cancer: data from analysis of TP53 polymorphisms, loss of heterozygosity, methylation, and mutations
Q90625767Copy Number Variation in MUC5AC and Susceptibility to Allergic Rhinitis: A Low-Coverage Whole-Genome Sequencing and Validation Cohort Study
Q84850043Copy number variation and incomplete linkage disequilibrium interfere with the HCP5 genotyping assay for abacavir hypersensitivity
Q51753526Cornelia de Lange syndrome: a case study.
Q57721696Correction
Q90120778Correction 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
Q91595234Correction 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
Q35202248Correlates of the FTO gene variant (rs9939609) and growth of American Indian infants
Q50222757Correlation Between Mitochondrial DNA Content Measured in Myocardium and Peripheral Blood of Patients with Non-Ischemic Heart Failure.
Q92116672Correlation Between Single Nucleotide Polymorphisms at the 3'-UTR of the NFKB1 Gene and Acute Kidney Injury in Sepsis
Q96582117Correlation Between Single Nucleotide Polymorphisms of an miRNA Binding Site in the 3'UTR of PTEN and Risk of Cervical Cancer Among the Han Chinese
Q89935377Correlation Between Single Nucleotide Polymorphisms of the rs664589 Locus in the Long-Chain Noncoding RNA Lung Adenocarcinoma Metastasis-Associated Gene 1, Hypertension, and Its Mechanism
Q50594732Correlation between NAT2 gene polymorphism and cirrhotic portal hypertension in the Chinese population.
Q84947231Correlation between common genetic variants and risk factors associated with prediction of cardiovascular diseases in dyslipidemic patients
Q50602757Correlation of ECR1 A3650G polymorphism with neonatal respiratory distress syndrome.
Q39089430Correlations 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
Q51090044Correlations Between LP-PLA2 Gene Polymorphisms and Susceptibility and Severity of Acute Pancreatitis in a Chinese Population.
Q35127135Correlations of ANP genetic polymorphisms and serum levels with ischemic stroke risk: a meta-analysis
Q58672299Counseling by computer: breast cancer risk and genetic testing. Developed by the University of Wisconsin-Madison Department of Medicine and the Program in Medical Ethics
Q73561056Criteria for newborn screening
Q49986862Crohn's Disease Candidate Gene Alleles Predict Time to Progression from Inflammatory B1 to Stricturing B2, or Penetrating B3 Phenotype
Q51336396Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population.
Q50745715Cross-Validation of High-Resolution Melting Analysis-Based Genotyping Platform.
Q45399093Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population.
Q49668003Curcumin Suppresses In Vitro Proliferation and Invasion of Human Prostate Cancer Stem Cells by Modulating DLK1-DIO3 Imprinted Gene Cluster MicroRNAs
Q38206225Current status of the use of single-nucleotide polymorphisms in forensic practices.
Q35158659Cx37 C1019T polymorphism may contribute to the pathogenesis of coronary heart disease
Q33721318Cystic fibrosis carrier population screening: a review
Q46385197Cystic fibrosis carrier screening in obstetric clinical practice: knowledge, practices, and barriers, a decade after publication of screening guidelines
Q50143496Cystic 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
Q77480341Cystic fibrosis carrier screening: steps in the development of a mutation panel
Q84769570Cystic 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
Q33721312Cystic fibrosis in Jews: frequency and mutation distribution
Q77480345Cystic fibrosis mutation testing in Italy
Q81352528Cystic fibrosis newborn screening: a pilot study to maximize carrier screening
Q39011246Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia
Q73561072Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508
Q35609439Cytochrome 4A11 Genetic Polymorphisms Increase Susceptibility to Ischemic Stroke and Associate with Atherothrombotic Events After Stroke in Chinese
Q39621412Cytochrome P450 (CYP3A4*18) and glutathione-S-transferase (GSTP1) polymorphisms in a healthy Tunisian population
Q39881244Cytochrome P4502E1 (CYP2E1) genetic polymorphisms in a Lebanese population: frequency distribution and association with morbid diseases
Q39304923Cytogenetic activity of diazepam in normal human lymphocyte cultures
Q43107324Cytogenetic activity of newly synthesized 1,5-benzodiazepines in normal human lymphocyte cultures
Q51552104Cytogenetic 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.
Q38858056Cytogenetic analysis of 5572 patients referred for suspected chromosomal abnormalities in Morocco
Q43213018Cytogenetic and antineoplastic effects of modified steroidal alkylators
Q84570594Cytogenetic damage after ischemia and reperfusion
Q54321555Cytokine gene polymorphisms in the susceptibility to acute coronary syndrome.
Q44842099Cytotoxic T-lymphocyte antigen-4 +49G/A polymorphism is associated with increased risk of osteosarcoma
Q54269032Cytotoxic T-lymphocyte antigen-4 genetic variants and risk of Ewing's sarcoma.
Q34641619Cytotoxic T-lymphocyte antigen-4 polymorphisms and susceptibility to Ewing's sarcoma
Q44574894D18S880 microsatellite polymorphism of carnosinase gene and diabetic nephropathy: a meta-analysis
Q89716704DEFB4A Promoter Polymorphism Is Associated with Chronic Periodontitis: A Case-Control Study
Q36720665DHFR 19-bp deletion and SHMT C1420T polymorphisms and metabolite concentrations of the folate pathway in individuals with Down syndrome
Q54421039DHPLC analysis of adenomatous polyposis coli (APC) mutations using ready-to-use APC plates: simple detection of multiple base pair deletion mutations.
Q38373906DNA Methylome Profiling on the Infinium HumanMethylation450 Array from Limiting Quantities of Genomic DNA from a Single, Small Archived Bloodspot
Q34021177DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities.
Q82626872DNA copy number changes and immunophenotype pattern in karyotypically normal acute myeloid leukemia patients from an Indian population
Q38081199DNA methylation biomarkers of stool and blood for early detection of colon cancer
Q53274835DNA repair gene XRCC3 T241M polymorphism and bladder cancer risk in a Chinese population.
Q39423474DNA repair gene polymorphisms at XRCC1 (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population: interethnic variation and functional prediction.
Q51748357DNA repair gene variants in migraine.
Q41748000DNA repair genes XRCC1 and ERCC1 polymorphisms and the risk of sporadic breast cancer in Han women in the Gansu Province of China
Q48724609DNA repair genes in Parkinson's disease
Q30482861DNA-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.
Q51828104Dangerous Liaisons: Connecting CRISPR/Cas9 to Clinical Science.
Q42646366Data Sharing as the New Norm: What About the People Part?
Q51038451De novo produced anti-human leukocyte antigen antibodies relation to alloimmunity in patients with chronic renal failure.
Q40658424Debunking the Myth of the Genetic Superman
Q53230104Decision analysis and Alzheimer disease: three case studies.
Q46750813Decision analysis of prenatal testing for chromosomal disorders: what do the preferences of pregnant women tell us?
Q51697545Decorin Genotypes, Serum Glucose, Heart Rate, and Cerebrovascular Events: The Tampere Adult Population Cardiovascular Risk Study.
Q39719014Deep Sequencing of Cell-Free Peripheral Blood DNA as a Reliable Method for Confirming the Diagnosis of Myelodysplastic Syndrome
Q41687393Defining dementia: social and historical background of Alzheimer disease
Q53413328Deiodinases, Organic Anion Transporter Polypeptide Polymorphisms, and Thyroid Hormones in Patients with Myocardial Infarction.
Q78178504Deleterious mutations of both BRCA1 and BRCA2 in three siblings
Q81347852Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR
Q54484594Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality.
Q81826211Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families
Q73535697Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations
Q84042720Delta-sarcoglycan gene polymorphism frequency in Amerindian and Mestizo populations of Mexico
Q78178619Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders
Q79327678Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A
Q73356709Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients
Q33150741Denaturing high-performance liquid chromatography quickly and reliably detects cardiac ion channel mutations in long QT syndrome
Q59416417Description of the First Two Seemingly Unrelated Greek Cypriot Families with a Common C618R RET Proto-Oncogene Mutation
Q89972589Design and Evaluation of a Method for Testing Polymorphisms of Folate-Related Genes Using the Luminex Liquichip System
Q47913123Design 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
Q54459935Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.
Q93098003Design of a Targeted Sequencing Assay to Detect Rare Mutations in Circulating Tumor DNA
Q91192644Detection of BRAFV600E Mutation in Melanoma Patients by Digital PCR of Circulating DNA
Q34011501Detection of C282Y and H63D in the HFE gene
Q36789391Detection of CEBPA double mutants in acute myeloid leukemia using a custom gene expression array
Q45368193Detection of Epstein-Barr virus DNA in serum or plasma for nasopharyngeal cancer: a meta-analysis
Q40393954Detection of MEFV gene mutations in patients with inflammatory bowel disease
Q44558751Detection of PAX2 deletions and duplications using multiplex ligation-dependent probe amplification
Q92746283Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden
Q86389634Detection of Turner Syndrome by quantitative PCR of SHOX and VAMP7 genes
Q48000927Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for fragile X syndrome
Q73535678Detection of an unusual combination of mutations in the HFE gene for hemochromatosis
Q87265453Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing
Q84454269Detection of deletions/duplications in α-globin gene cluster by multiplex ligation-dependent probe amplification
Q43199270Detection 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
Q46083232Detection of mitochondrial DNA mutations in nonmuscle invasive bladder cancer
Q36720677Detection of mutant NPM1 mRNA in acute myeloid leukemia using custom gene expression arrays
Q45888031Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification
Q43296458Detection of non-DeltaGT NCF-1 mutations in chronic granulomatous disease
Q53404884Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCR.
Q54667695Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR.
Q39122940Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.
Q77962898Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay
Q78178608Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system
Q39765504Detection of somatic mutations and germline polymorphisms in mitochondrial DNA of uterine fibroids patients
Q54613074Detection of spinal muscular atrophy carriers by nested polymerase chain reaction of single sperm cells.
Q43858338Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss
Q48287595Detection of the G-->T polymorphism at the Sp1 binding site of the collagen type I alpha 1 gene by a novel ARMS-PCR method
Q47717882Detection of the TLR4 1196C>T polymorphism by mismatched-polymerase chain reaction using plasmid DNA as internal control in restriction fragment length polymorphism assays.
Q35888683Detection of thrombophilic mutations related to spontaneous abortions by a multiplex SNaPshot method
Q87317709Detection of β-Thalassemia Mutations Using TaqMan Single Nucleotide Polymorphism Genotyping Assays
Q33331447Determination of HER-2/Neu status in hepatocellular carcinoma cases
Q28304495Determination of O⁶-methylguanine DNA methyltransferase promoter methylation in non-small cell lung cancer
Q43040984Determination of hepatitis C virus genotypes in pruritus patients in saudi arabia
Q44254568Determination of melting temperature for variant detection using dHPLC: a comparison between an empirical approach and DNA melting prediction software
Q46669740Developing genetic privacy legislation: the South Carolina experience
Q37982098Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence?
Q54780629Developing the Scientific Infrastructure to Produce Ethnogenetically-Specific Personalized Medicine.
Q91538540Development and Cross-Validation of High-Resolution Melting Analysis-Based Cardiovascular Pharmacogenetics Genotyping Panel
Q40388514Development and Validation of a New Molecular Diagnostic Assay for Detection of Myotonic Dystrophy Type 2.
Q46373639Development and pilot evaluation of novel genetic educational materials designed for an underserved patient population
Q50765331Development and pilot testing of a decision aid for men considering genetic testing for breast and/or ovarian cancer-related mutations (BRCA1/2).
Q80974258Development and preliminary validation of the cancer family impact scale for colorectal cancer
Q49967491Development of a Polymerase Chain Reaction/Ligase Detection Reaction Assay for Detection of CYP2C19 Polymorphisms
Q93364644Development of a Simple and Cost-Effective Method Based on T7 Endonuclease Cleavage for Detection of Single Nucleotide Polymorphisms
Q47565286Development of a Targeted Next-Generation Sequencing Assay to Detect Diagnostically Relevant Mutations of JAK2, CALR, and MPL in Myeloproliferative Neoplasms
Q49967505Development of a Trio of Potential Biomarkers for Cancer Prognosis
Q36110695Development of a brochure for increasing awareness of inherited breast cancer in black women.
Q44793038Development of a high-resolution melting analysis for the detection of the SF3B1 mutations
Q73015982Development of a highly accurate, rapid PCR-RFLP genotyping assay for the methylenetetrahydrofolate reductase gene
Q40321138Development of a method to control the RNA extraction and reverse transcription steps for the detection of dengue virus present in human blood samples
Q45854149Development of a nonfluorescent multiplex semiquantitative polymerase chain reaction to confirm rearrangements detected by array-comparative genomic hybridization
Q51298299Development of an oligochip for genotyping human leukocyte antigen-B51 and its clinical application.
Q46676624Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.
Q84769558Diagnosis of Down syndrome and detection of origin of nondisjunction by short tandem repeat analysis
Q54459914Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay.
Q78178626Diagnosis of ataxia telangiectasia with the glycophorin A somatic mutation assay
Q84242147Diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening evaluation for SMN1 deletions and intragenic mutations
Q44103043Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol
Q96222497Diagnostic Potential of MicroRNAs as Biomarkers in the Detection of Preeclampsia
Q89166851Diagnostic Value of the Survivin Autoantibody in Four Types of Malignancies
Q38123525Diagnostic accuracy of glycosylated hemoglobin in chinese patients with gestational diabetes mellitus: a meta-analysis based on 2,812 patients and 5,918 controls
Q45814522Diagnostic and prognostic scoring system for prostate cancer using urine and plasma biomarkers
Q80080574Diagnostic genetic testing for hereditary breast and ovarian cancer in cancer patients: women's looking back on the pre-test period and a psychological evaluation
Q35192310Diagnostic significance of serum osteopontin level for pancreatic cancer: a meta-analysis
Q80080591Diagnostic test for Y chromosome microdeletion screening in male infertility
Q36789409Diagnostic value of circulating microRNAs for lung cancer: a meta-analysis
Q87068723Diagnostics are the vanguard of medicine
Q90869762Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing
Q40579613Differences between African Americans and Whites in their attitudes toward genetic testing for Alzheimer's disease
Q36218985Different Contributions of CDKAL1, KIF21B, and LRRK2/MUC19 Polymorphisms to SAPHO Syndrome, Rheumatoid Arthritis, Ankylosing Spondylitis, and Seronegative Spondyloarthropathy
Q79186938Different genes and polymorphisms affecting high-density lipoprotein cholesterol levels in Greek familial hypercholesterolemia patients
Q40425478Different intrafamilial clinical presentation of FMF mutation carriers
Q104129571Differential Expression of miR-21, miR-23a, and miR-27a, and Their Diagnostic Significance in Egyptian Colorectal Cancer Patients
Q42966045Differential methylation as a cause of allele dropout at the imprinted GNAS locus
Q36041632Differentiation of African components of ancestry to stratify groups in a case-control study of a Brazilian urban population.
Q45063084Direct-to-Consumer Genetic Testing and Orphan Drug Development
Q38575107Direct-to-consumer genetic testing: a systematic review of european guidelines, recommendations, and position statements.
Q82890863Direct-to-consumer marketing of genetic tests: access does not reflect clinical utility
Q45302399Disclosure of Huntington's disease to family members: the dilemma of known but unknowing parties
Q36052698Disclosure of genetic information obtained through research
Q42670688Disclosure of personal medical information: differences among parents and affected adults for genetic and nongenetic conditions
Q47327771Discovery of children's carrier status for recessive genetic disease: some ethical issues
Q51746462Discrepancies between estimated and perceived risk of cancer among individuals with hereditary nonpolyposis colorectal cancer.
Q44372801Discrepancy between initial high expression of interest in clinical cancer genetic testing and actual low uptake in an Asian population
Q54302887Discrepancy in the frequency of Y chromosome microdeletions among Iranian infertile men with azoospermia and severe oligozoospermia.
Q28143171Disease genes and chromosomes: disease maps of the human genome
Q28202026Disease genes and chromosomes: disease maps of the human genome
Q28142265Disease genes and chromosomes: disease maps of the human genome. Chromosome 14
Q28144859Disease genes and chromosomes: disease maps of the human genome. Chromosome 15
Q28143186Disease genes and chromosomes: disease maps of the human genome. Chromosome 16
Q28143158Disease genes and chromosomes: disease maps of the human genome. Chromosome 17
Q28143162Disease genes and chromosomes: disease maps of the human genome. Chromosome 18
Q28143166Disease genes and chromosomes: disease maps of the human genome. Chromosome 19
Q28143183Disease genes and chromosomes: disease maps of the human genome. Chromosome 21
Q28143156Disease genes and chromosomes: disease maps of the human genome. Chromosome 22
Q28248351Disease genes and chromosomes: disease maps of the human genome. Chromosome 4
Q28215906Disease genes and chromosomes: disease maps of the human genome. Chromosome 9
Q28141806Disease genes and chromosomes: disease maps of the human genome.Chromosome 12
Q51818334Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology.
Q42324494Distribution of CYP2D6 and CYP2C19 polymorphisms associated with poor metabolizer phenotype in five Amerindian groups and western Mestizos from Mexico.
Q54473731Distribution of cytokine gene polymorphisms in the general Lebanese population: the first report.
Q39909878Distribution of glutathione S-transferase T1 and M1 genes polymorphisms in North East Indians: a potential report
Q34967760Distribution of killer cell immunoglobulin-like receptor (KIR) genotypes in patients with familial Mediterranean fever.
Q84794461Distribution of polymorphisms in cytochrome P450 2B6, histocompatibility complex P5, chemokine coreceptor 5, and interleukin 28B genes in inhabitants from the central area of Argentina
Q36308201Distribution of the IL-1RN, IL-6, IL-10, INF-γ, and TNF-α Gene Polymorphisms in the Mexican Population.
Q53474737Do inherited disease genes have distinguishing functional characteristics?
Q35865197Do the aryl hydrocarbon receptor interacting protein variants (Q228K and Q307R) play a role in patients with familial and sporadic hormone-secreting pituitary adenomas?
Q40415673Does genetic counseling have any impact on management of breast cancer risk?
Q44103039Does prenatal screening for 5,10-methylenetetrahydrofolate reductase (MTHFR) mutations in high-risk neural tube defect pregnancies make sense?
Q51364715Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?
Q59423409Does the Level of WT1 Expression Predict the Outcome in Philadelphia-Negative Myeloproliferative Neoplasms?
Q57643387Don't just invite us to the table: authentic community engagement
Q35888712Donation intentions for cancer genetics research among African Americans
Q39084098Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy
Q35693739Down syndrome: parental origin, recombination, and maternal age.
Q93124227Downregulated Expression of Chromobox Homolog 7 in Hepatocellular Carcinoma
Q96581378Downregulation of Collagen COL4A6 Is Associated with Prostate Cancer Progression and Metastasis
Q38887098Downregulation of VANGL1 inhibits cellular invasion rather than cell motility in hepatocellular carcinoma cells without stimulation
Q91930560Dual-Targeting of miR-124-3p and ABCC4 Promotes Sensitivity to Adriamycin in Breast Cancer Cells
Q80757032Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family
Q51648682Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases.
Q90656859Dysregulation of the Urothelial Cancer Associated 1 Long Noncoding RNA Promotes Proliferation of Vascular Smooth Muscle Cells by Modulating Expression of P27KIP1/CDK2
Q51429911Dystrophin gene mutation analysis in Iranian males and females using multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification methods.
Q53974954Dystrophin point mutation screening using a multiplexed protein truncation test.
Q74210406Early detection of genetic hemochromatosis: should all young adults be offered the genetic test?
Q50440001Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population.
Q34439851Ebola hemorrhagic fever: genetic biomarkers and vaccine development
Q38046258Economic evaluations conducted for assessment of genetic testing technologies: a systematic review
Q83095616Ectonucleotide pyrophosphatase/phosphodiesterase 1 K173Q polymorphism is associated with diabetic nephropathy in the Taiwanese population
Q50745719Ectopic High Expression of E2-EPF Ubiquitin Carrier Protein Indicates a More Unfavorable Prognosis in Brain Glioma.
Q78823835Editor's comment: colon cancer carrier screening enters the genetic testing arena
Q44238737Education may improve the underutilization of genetic services by Middle Eastern primary care practitioners
Q38380148Effect of ATM-111 (G>A) Polymorphism on Cancer Risk: A Meta-Analysis
Q39038584Effect of Interleukin-27 Genetic Variants on Atrial Fibrillation Susceptibility
Q53670904Effect of benzene exposure on fertility of male workers employed in bulk drug industries.
Q46407959Effect of cyclosporin A and tacrolimus on sister chromatid exchange frequency in renal transplant patients
Q28299523Effect of estrogen receptor β A1730G polymorphism on ABCA1 gene expression response to postmenopausal hormone replacement therapy
Q87486242Effect 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
Q35115336Effects of MTHFR genetic polymorphisms on toxicity and clinical response of irinotecan-based chemotherapy in patients with colorectal cancer
Q38126071Effects of OPRM1 A118G polymorphism on epidural analgesia with fentanyl during labor: a meta-analysis
Q90754000Effects of a Polymorphism in the Promoter Region of the Follicle-Stimulating Hormone Subunit Beta (FSHB) Gene on Female Reproductive Outcomes
Q38398512Effects of interleukin-10 polymorphisms (rs1800896, rs1800871, and rs1800872) on breast cancer risk: evidence from an updated meta-analysis
Q53868338Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.
Q34190912Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.
Q73742280Efficient mutation detection in mismatch repair genes using a combination of single-strand conformational polymorphism and heteroduplex analysis at a controlled temperature
Q49423618Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria
Q73338754Elastin region deletions in Williams syndrome
Q53091643Elevated Levels of Protein Disulfide Isomerase and Binding Immunoglobulin Protein Implicated in Spinal Cord Injury Paraplegia Patients with Pressure Ulcers.
Q46327793Elevated Serum Level of CA125 Is a Biomarker That Can Be Used to Alter Prognosis Determined by BRCA Mutation and Family History in Ovarian Cancer
Q97676514Elucidation of the Mechanism by Which a ADAMTS5 Gene MicroRNA-Binding Site Single Nucleotide Polymorphism Affects the Risk of Osteoarthritis
Q34439845Endothelial lipase-384A/C polymorphism is associated with acute coronary syndrome and lipid status in elderly Uygur patients in Xinjiang
Q36092727Endothelial nitric oxide synthase (G894T) gene polymorphism in a random sample of the Egyptian population: comparison with myocardial infarction patients
Q28259108Endothelial nitric oxide synthase gene polymorphisms and the risk of diabetic nephropathy in type 2 diabetes mellitus
Q56775892Engaging research participants and building trust
Q37142951Enhanced primer selection and synthetic amplicon templates optimize high-resolution melting analysis of single-nucleotide polymorphisms in a large population
Q83038472Epidermal growth factor +61 G/A polymorphism and the risk of hepatocellular carcinoma in a Chinese population
Q34361442Epidermal growth factor 61A>G polymorphism is associated with risk of hepatocellular carcinoma: a meta-analysis
Q50890894Epigenetic Changes of the ESR1 Gene in Breast Tissue of Healthy Women: A Missing Link with Breast Cancer Risk Factors?
Q40578486Epigenetics and Racial Health Inequities
Q33721286Establishing criteria for a carrier detection panel: lessons from the Ashkenazi Jewish model
Q78178646Estimated contribution of known ataxia genes in ataxia patients undergoing DNA testing
Q98215229Estimates of European American Ancestry in African Americans Using HFE p.C282Y
Q50626570Estimation 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.
Q57417529Estrogen Receptor 2 Polymorphism and Carotid Intima-Media Thickness
Q47717898Estrogen receptor beta gene variant is associated with vascular dementia in elderly women
Q35036602Ethnic differences in the association of thrombophilic polymorphisms with obstetric complications in Slovak and Roma (Gypsy) populations
Q46356037Ethnic differences in the frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in healthy Israeli populations
Q43932099Ethnic differences in the frequency of the cardioprotective C679X PCSK9 mutation in a West African population
Q56785058Evaluating online direct-to-consumer marketing of genetic tests: informed choices or buyers beware?
Q48017414Evaluating the Association of Common Variants of the SLC44A4 Gene with Ulcerative Colitis Susceptibility in the Han Chinese Population
Q37567826Evaluating the psychological effects of genetic testing in symptomatic patients: a systematic review
Q91571873Evaluation of Association of Vitamin D Receptor Genetic Polymorphism with Severe Chronic Periodontitis in an Ethnic Tamilian Population
Q54394488Evaluation of Aurora-A gene polymorphism and esophageal cancer risk in a South Indian population.
Q93097979Evaluation of Biochemical Parameters Present in the Saliva of Patients with Chronic Periodontitis: Results from a Meta-Analysis
Q56980491Evaluation of Common Variants in Matrix Metalloproteinase-9 Gene with Lumbar Disc Herniation in Han Chinese Population
Q95926424Evaluation of Common Variants in the AKNA Gene and Susceptibility to Knee Osteoarthritis Among the Han Chinese
Q96227674Evaluation of Endocan and Tumor Necrosis Factor-α as Inflammatory Biomarkers in Type 2 Diabetes and Periodontal Disease
Q92366462Evaluation of Ficolin-3 as a Potential Prognostic Serum Biomarker in Chinese Patients with Esophageal Cancer
Q34439986Evaluation 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
Q33705286Evaluation of MYOC, ACAN, HGF, and MET as candidate genes for high myopia in a Han Chinese population
Q51068992Evaluation of a Panel of Single-Nucleotide Polymorphisms in miR-146a and miR-196a2 Genomic Regions in Patients with Chronic Periodontitis.
Q44487287Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan
Q47717860Evaluation 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
Q84086207Evaluation 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
Q50488169Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.
Q53210917Evaluation 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.
Q33721235Evaluation of genetic tests: APOE genotyping for the diagnosis of Alzheimer disease
Q30580926Evaluation of genotype data in clinical risk assessment: methods and application to BRCA1, BRCA2, and N-acetyl transferase-2 genotypes in breast cancer
Q54323917Evaluation of glutathione S-transferase P1 polymorphisms (Ile105Val and Ala114Val) in patients with small cell lung cancer.
Q37277638Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance.
Q94606520Evaluation of the Genetic Association and mRNA Expression of the COL1A1, BMP2, and BMP4 Genes in the Development of Otosclerosis
Q51566391Evaluation of the IL1 Gene Cluster Single Nucleotide Polymorphisms in Primary Open-Angle Glaucoma Pathogenesis.
Q91846042Evaluation of the Relationship Between Common Variants in the TLR-9 Gene and Hip Osteoarthritis Susceptibility
Q34978005Evaluation of the SMN and NAIP genes in a family: homozygous deletion of the SMN2 gene in the fetus and outcome of the pregnancy
Q36408110Evaluation of the association between the ADRA2A genetic polymorphisms and type 2 diabetes in a Chinese Han population
Q38852800Evaluation of the contribution of renin angiotensin system polymorphisms to the risk of coronary artery disease among Tunisians.
Q54655246Evaluation 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.
Q50783654Evaluation of the human fragile X mental retardation 1 polymerase chain reaction reagents to amplify the FMR1 gene: testing in a clinical diagnostic laboratory.
Q73742306Evaluation of the prothrombin gene polymorphism in patients with advanced retinopathy of prematurity
Q59416418Evidence 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
Q43416900Evidence for contribution of the y chromosome in atherosclerotic plaque occurrence in men.
Q28236475Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution
Q39103293Evidence from a Ghanaian population of known African descent to support the proposition that hemochromatosis is a Caucasian disorder
Q40540252Evolution of Hereditary Breast Cancer Genetic Services: Are Changes Reflected in the Knowledge and Clinical Practices of Florida Providers?
Q48067021Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients
Q52864171Exon deletions and duplications in BRCA1 detected by semiquantitative PCR.
Q88732418Expanded Carrier Screening and Its Implications on Genetic Testing Protocols
Q87301352Expanding the Scope of our Journal to Include Molecular Diagnostics for Infectious Diseases
Q93060342Experimental Study and Clinical Observation on the Improvement Effect of Lienal Polypeptide on Blood Toxicity and Immune Injury Induced by Radiotherapy
Q34077824Explaining behavior change after genetic testing: the problem of collinearity between test results and risk estimates
Q92274873Exploration of the Serum Interleukin-17 and Interleukin-27 Expression Levels in Children with Bronchial Asthma and Their Correlation with Indicators of Lung Function
Q82545329Exploring priorities for public health genomics
Q91480950Expression Analysis of PVT1, CCDC26, and CCAT1 Long Noncoding RNAs in Acute Myeloid Leukemia Patients
Q53476912Expression Levels of miR-30a-5p in Papillary Thyroid Carcinoma: A Comparison Between Serum and Fine Needle Aspiration Biopsy Samples.
Q87413535Expression level of miR-93 in formalin-fixed paraffin-embedded tissues of breast cancer patients
Q50706022Expression of Circulating miR-17-92 Cluster and HDAC9 Gene in Atherosclerotic Patients with Unstable and Stable Carotid Plaques.
Q53174831Expression of Egfl7 and miRNA-126-5p in Symptomatic Carotid Artery Disease.
Q93389624Expression of Survivin and Its Splice Variants in Pediatric Acute Lymphoblastic Leukemia
Q89708482Expression of the Chemokine Receptor CXCR3 Correlates with Dendritic Cell Recruitment and Prognosis in Gastric Cancer
Q92509153FBXW7 Mutations Promote Cell Proliferation, Migration, and Invasion in Cervical Cancer
Q43449148FDA and CLIA oversight of advanced diagnostics and biomarker tests
Q86176568FDA's framework for regulatory oversight of LDTs
Q38203625FGB 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
Q48000996FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing
Q51847782FMR1 protein expression in blood smears for fragile X syndrome diagnosis in a Mexican population sample.
Q73356700FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation
Q59690751Facioscapulohumeral Muscular Dystrophy Type 1A in Northwestern Tuscany: A Molecular Genetics-based Epidemiological and Genotype–Phenotype Study
Q84232940Factor V Leiden and the risk of venous thrombosis, myocardial infarction, and stroke: a case-control study in Venezuela
Q77962880Factor V Leiden mutation screened by PCR and detected with lanthanide-labeled probes
Q80062520Factors associated with an individual's decision to withdraw from genetic testing for breast and ovarian cancer susceptibility: implications for counseling
Q34774054Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations
Q44232913False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy
Q81347857False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by Southern blot analysis: the role of neutral polymorphisms
Q40576728Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus
Q51837885Familial Subtelomeric Rearrangement of Chromosomes 19 and 20: A New Contribution to Partial Distal 19q Trisomy
Q74498032Familial dysautonomia and the expansion of the Ashkenazi Jewish carrier screening panel
Q81432210Fanconi anemia: contribution of molecular analyses to the identification of bone marrow graft donors and the study of chimerism in grafted patients
Q33721308Fanconi anemia: genetic testing in Ashkenazi Jews
Q38398112Fas -670A/G (rs1800682) polymorphism and digestive cancer risk in Asians: a meta-analysis
Q84931960Fas, Fas Ligand, and vitamin D Receptor FokI gene polymorphisms in patients with type 1 diabetes mellitus in the Aegean region of Turkey
Q47761973Fibroblast growth factor receptor 4 polymorphisms are associated with coronary artery disease
Q43604484Filaggrin mutations in a Western siberian population and their association with atopic dermatitis in children
Q73338750Fine mapping of progressive pseudorheumatoid dysplasia: a tool for heterozygote identification
Q52004196Fine 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.
Q73834609First BRCA1 and BRCA2 gene testing implemented in the health care system of Stockholm
Q43502110First report on HLA-DPB1 gene allelic distribution in the general Lebanese population
Q88755123Five Common Functional Polymorphisms in microRNAs and Susceptibility to Breast Cancer: An Updated Meta-Analysis
Q91761398Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis
Q33705889Five common haplotype-tagging variants of adiponectin (ADIPOQ) and cancer susceptibility: a meta-analysis
Q56770004Five principles: returning genetic testing results to research participants
Q48711760Five-locus HLA typing of hematopoietic stem cell donor volunteers using PCR sequence specific primers
Q92592854Flexi-Myo Panel Strategy: Genomic Diagnoses of Myopathies and Muscular Dystrophies by Next-Generation Sequencing
Q36367670Flotillin-2 Gene Is Associated with Coronary Artery Disease in Chinese Han Population
Q80603336Focus group approach for developing written patient information in oncogenetics
Q53095862Folate gene polymorphisms MTR A2756G, MTRR A66G, and BHMT G742A and risk for coronary artery disease: a meta-analysis.
Q39041032Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women.
Q78684528Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands
Q38884044Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews
Q35752177Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing.
Q90682648Free at Last? Discussing the Future of Forensic Genealogy
Q30728592Free the Data
Q30456850Free the data: the end of genetic data as trade secrets
Q38992098Frequencies of CYP3A5*1/*3 variants in a Moroccan population and effect on tacrolimus daily dose requirements in renal transplant patients
Q45559571Frequencies of Four ATP-Binding Cassette Transporter G8 Polymorphisms in Patients with Ischemic Vascular Diseases
Q39358084Frequencies of promoter pentanucleotide (TTTTA)n of CYP11A gene in European and North African populations
Q44928014Frequencies of three CYP2D6 nonfunctional alleles (CYP2D6*3, *4, and *6) within an Iranian population (Mazandaran).
Q35693733Frequency 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
Q79186930Frequency of CARD15 polymorphisms in patients with Crohn's disease from Toledo, Spain: genotype-phenotype correlation
Q39131868Frequency of CCR5 Gene 32-bp deletion in Pakistani ethnic groups
Q81432207Frequency of HFE H63D, S65C, and C282Y mutations in patients with iron overload and controls from Toledo, Spain
Q39505648Frequency of IL28B rs12979860 single-nucleotide polymorphism alleles in newborn infants and in patients with chronic hepatitis C in Morocco
Q46308235Frequency of certain single-nucleotide polymorphisms and duplication of CYP2D6 in the Jordanian population
Q84485540Frequency of five important CYP2D6 alleles within an Iranian population (Eastern Azerbaijan)
Q78823865Frequency of hemochromatosis C282Y and H63D mutations in Sardinia
Q42938225Frequency of prothrombotic risk factors in patients with deep venous thrombosis and controls: their implications for thrombophilia screening in Chilean subjects
Q39694144Frequency 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.
Q55054375Frequency of uridine monophosphate synthase Gly(213)Ala polymorphism in Caucasian gastrointestinal cancer patients and healthy subjects, investigated by means of new, rapid genotyping assays.
Q36312046From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation
Q85279818From base Pairs to bedside…and beyond
Q83686980From bench to practice to population health impact: barriers to realizing the public health and clinical promise of basic scientific discovery
Q54280606Full-gene-sequencing analysis of N-acetyltransferase-2 in an adult Indian population.
Q39860321Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene
Q36225253Functional gene polymorphism of matrix metalloproteinase-1 is associated with benign hyperplasia of myo- and endometrium in the Russian population
Q38494660Functional network analysis with the subcellular location and gene ontology information in human allergic asthma
Q35008057Functional polymorphisms in surfactant protein genes and chronic obstructive pulmonary disease risk: a meta-analysis
Q24316460Future of Microbiomes Through the National Microbiome Initiative
Q39052173G2019S mutation of the leucine-rich repeat kinase 2 gene in a cohort of Egyptian patients with Parkinson's disease
Q45931449G6PD Mediterranean S188F codon mutation is common among Saudi sickle cell patients and increases the risk of stroke.
Q45025093GATA4 mutations in 357 unrelated patients with congenital heart malformation
Q84242138GATA4 specific nonsynonymous single-nucleotide polymorphisms in congenital heart disease patients of Mysore, India
Q87736355GINA and ADA: New Rule Seriously Dents Previous Protections
Q43826783GJB2 allele variants and the associated audiologic features identified in Chinese patients with less severe idiopathic hearing loss
Q50478281GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.
Q50442173GJB2 mutations in patients with nonsyndromic hearing loss from Croatia.
Q47897219GLIS3 and TYK2 Single Nucleotide Polymorphisms Are Not Associated with Dermatomyositis/Polymyositis in Chinese Han Population
Q53265337GNAS1 (Gαs) gene T393C polymorphism and renal cell carcinoma risk in a North Indian population: a case-control study.
Q54473307GPR143 mutational analysis in two Italian families with X-linked ocular albinism.
Q47352204GSTM1 and GSTT1 Gene Polymorphisms, Gene-Gene Interaction, and Esophageal Carcinoma Risk: Evidence from an Updated Meta-Analysis
Q97549466GTMB Policy on Database-Derived Articles
Q33721290Gaucher disease: gene frequencies and genotype/phenotype correlations
Q45297107Gender differences in attitudes among those at risk for Huntington's disease
Q36476832Gender, body mass index, and PPARγ polymorphism are good indicators in hyperuricemia prediction for Han Chinese
Q46526127Gender-Specific Association Between FGFR4 Gly388Arg Gene Variants and Hypertension
Q51355837Gender-specific association of methylenetetrahydrofolate reductase gene polymorphisms with sporadic amyotrophic lateral sclerosis.
Q95310927Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates
Q58061415Gene 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
Q104610667Gene Environment Interactions Between the COL9A1 Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus
Q92746379Gene Expression of the Circulating Long Noncoding RNA H19 and HOTAIR in Egyptian Colorectal Cancer Patients
Q53812582Gene Polymorphisms in the RANKL/RANK/OPG Pathway Are Associated with Type 2 Diabetes Mellitus in Southern Han Chinese Women.
Q54391634Gene expression and promoter region polymorphisms of interleukin-10 in meningitis patients.
Q64988478Gene 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.
Q56658695Gene polymorphisms and sport attitude in Italian athletes
Q33153437Gene sequencing in neonates and infants with the long QT syndrome.
Q84211445Gene-gene interactions among genetic variants from obesity candidate genes for nonobese and obese populations in type 2 diabetes
Q64869626Genetic Analysis of LRRK1 and LRRK2 Variants in Essential Tremor Patients
Q40540189Genetic Analysis of the ZNF512B, SLC41A1, and ALDH2 Polymorphisms in Parkinson's Disease in the Iranian Population.
Q87487202Genetic Association Between IL-21 Polymorphisms and Cryptorchidism in a Chinese Han Population
Q88752561Genetic Association Study Between the COL11A1 and COL18A1 Genes and High Myopia in a Han Chinese Population
Q40588693Genetic Association of PARP15 Polymorphisms with Clinical Outcome of Acute Myeloid Leukemia in a Korean Population
Q50067433Genetic Association of the Norepinephrine Transporter Gene G1287A Polymorphism with Risk of Schizophrenia: A Case-Control Study and Meta-Analysis
Q48207156Genetic Associations and Interactions Between the NR3C1 (GR) and NR3C2 (MR) Genes and Aggressive Behavior in a Central South Chinese Han Population
Q91322592Genetic Distribution of the LTA +252 A>G and TNFA -308 G > A Polymorphisms in the Moroccan Population
Q88918686Genetic Information Nondiscrimination Act and the Affordable Care Act: When Two Is Better Than One
Q54171393Genetic Modifiers in β-Thalassemia Intermedia: A Study on 102 Iraqi Arab Patients.
Q89166849Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort
Q38747625Genetic Polymorphism of Drug-Metabolizing Enzymes CYP2C9 and CYP2C19 in Moroccan Population
Q41268009Genetic Polymorphism of the Serotonin Transporter Gene, SLC6A4 rs16965628, Is Associated with Obsessive Compulsive Disorder
Q47308128Genetic Polymorphisms in PRM1, PRM2, and YBX2 Genes are Associated with Male Factor Infertility
Q47663718Genetic Polymorphisms of Cytochrome P450 Enzymes and Transport Proteins in a Russian Population and Three Ethnic Groups of Dagestan.
Q92896583Genetic Polymorphisms of miR-149 Associated with Susceptibility to Both Pulmonary and Extrapulmonary Tuberculosis
Q91371525Genetic Polymorphisms on 4q21.1 Contributed to the Risk of Hashimoto's Thyroiditis
Q90753996Genetic Predisposition to Unexplained Recurrent Pregnancy Loss: Killer Cell Immunoglobulin-Like Receptor Gene Polymorphisms as Potential Biomarkers
Q92116689Genetic Susceptibility to Systemic Sclerosis in the Greek-Cypriot Population: A Pilot Study
Q91192788Genetic Testing Across Young Hispanic and Non-Hispanic White Breast Cancer Survivors: Facilitators, Barriers, and Awareness of the Genetic Information Nondiscrimination Act
Q87325703Genetic Testing and the Workplace
Q45300383Genetic Testing for Huntington's Disease: How Is the Decision Taken?
Q57694666Genetic Testing for Women Previously Diagnosed with Breast/Ovarian Cancer: Examining the Impact of BRCA1 and BRCA2 Mutation Searching
Q91577263Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing
Q58532094Genetic Tests Need the Human Variome Project
Q88472787Genetic Variant Q63R of Cannabinoid Receptor 2 Causes Differential ERK Phosphorylation in Human Immune Cells
Q90120774Genetic 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
Q36367726Genetic Variants in Six-Transmembrane Epithelial Antigen of Prostate 4 Increase Risk of Developing Metabolic Syndrome in a Han Chinese Population
Q100380487Genetic Variants of the MTMR9 Gene Are Associated with NonSpecific Intellectual Disability: A Family-Based Association Study
Q73356720Genetic analyses of male breast cancer in Israel
Q46534577Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening
Q77962902Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity
Q54255902Genetic and Clinical Analyses of Southern Chinese Children with Peutz-Jeghers Syndrome.
Q102384881Genetic and Disability Discrimination During COVID-19
Q47256680Genetic and Environmental Biomarkers Associated with Triglyceride Levels in Two Groups of Slovak Women.
Q91571917Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Q37190345Genetic associations with hypertension: meta-analyses of six candidate genetic variants
Q38293255Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel
Q78178579Genetic counseling for BRCA1/BRCA2 testing
Q47589864Genetic counseling issues in Latinos
Q57155738Genetic counseling: a medical approach
Q40081240Genetic diagnosis in infertile men with numerical and constitutional sperm abnormalities
Q38888190Genetic differentiation and origin of the Jordanian population: an analysis of Alu insertion polymorphisms
Q53514581Genetic discrimination and screening for hemochromatosis: then and now.
Q41687398Genetic discrimination: who is really at risk?
Q78178544Genetic diseases and testing in Ashkenazi Jews: Part 1
Q47216832Genetic epidemiology of cancer predisposition DNA repair genes is probably related with ancestral surviving under adverse environmental conditions
Q34517626Genetic hemochromatosis, a Celtic disease: is it now time for population screening?
Q34011496Genetic hemochromatosis: detection, management, and population screening
Q78178445Genetic information must remain private to prevent discrimination, spur research
Q82206072Genetic information nondiscrimination act insurance protections issued
Q50483258Genetic laboratory practices related to testing of the GJB2 (Connexin-26) gene in the United States in 1999 and 2000.
Q78178508Genetic polymorphism of CYP2E1, ADH2, and ALDH2 in Mexican-Americans
Q81432215Genetic polymorphism of MJD1 alleles and molecular analysis of SCA3 patients from Rio de Janeiro, Brazil
Q51405389Genetic polymorphism of estrogen metabolizing enzymes in Siberian women with breast cancer.
Q39102768Genetic polymorphism of matrix metalloproteinase-1 and coronary artery disease susceptibility: a case-control study in a Han Chinese population
Q51731976Genetic polymorphisms in the UGT1A1 gene and breast cancer risk in Greek women.
Q36092754Genetic polymorphisms of CYP2C8 in the Czech Republic
Q45897327Genetic polymorphisms of glutathione S-transferase P1 and bladder cancer susceptibility in a Chinese population
Q83364068Genetic polymorphisms of p53 codon 72 and bladder cancer susceptibility: a hospital-based case-control study
Q34113879Genetic polymorphisms of platelet receptors in patients with acute myocardial infarction and resistance to antiplatelet therapy
Q30233706Genetic protocols review by Institutional Review Boards at National Cancer Institute-designated cancer centers
Q78178428Genetic risk assessment and insurance
Q46938021Genetic screening for two LRRK2 mutations in French patients with idiopathic Parkinson's disease
Q47805708Genetic screening of targeted subpopulations: the role of communal discourse in evaluating sociocultural implications
Q38938687Genetic screening of the G2019S mutation of the LRRK2 gene in Southwest European, North African, and Sephardic Jewish subjects
Q81456163Genetic testing
Q58674009Genetic testing and Alzheimer disease: recommendations of the Stanford Program in Genomics, Ethics, and Society
Q82841148Genetic testing and biomarkers in the new decade
Q78178437Genetic testing and health insurance practices: an industry perspective
Q38236678Genetic testing and native peoples: the call for community-based participatory research
Q73038261Genetic testing directory
Q78178574Genetic testing for breast cancer susceptibility: frequency of BRCA1 and BRCA2 mutations
Q52206256Genetic testing for breast-ovarian cancer susceptibility: a regional trial.
Q53533563Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.
Q79327688Genetic testing for hemochromatosis: attitudes and acceptability among young and older adults
Q84181535Genetic testing for inflammatory bowel disease: focus group analysis of patients and family members
Q80603331Genetic testing for late-onset diseases: effect of disease controllability, test predictivity, and gender on the decision to take the test
Q78178592Genetic testing for male infertility: a postulated role for mutations in sperm nuclear matrix attachment regions
Q33997309Genetic testing for the susceptibility to alcohol dependence: interest and concerns in an African American population
Q39983414Genetic testing of stored biological samples: views of 570 U.S. workers
Q34239169Genetic testing registry launched
Q33721265Genetic testing, Alzheimer disease, and long-term care insurance
Q37277633Genetic variability of inflammatory genes in the Brazilian population
Q86451344Genetic variant of single-nucleotide polymorphism is associated with risk of esophageal squamous cell carcinoma
Q45946955Genetic variants in fibrinolytic system-related genes in infertile women with and without endometriosis.
Q87884630Genetic variants in the PNPLA3 gene are associated with nonalcoholic steatohepatitis
Q53514312Genetic variants in the tumor necrosis factor-related apoptosis-inducing ligand and death receptor genes contribute to susceptibility to bladder cancer.
Q54659256Genetic variants of matrix metalloproteinase (MMP2) gene influence metabolic syndrome susceptibility.
Q49034905Genetic variants of potassium voltage-gated channel genes (KCNQ1, KCNH2, and KCNE1) affected the risk of atrial fibrillation in elderly patients
Q36638582Genetic variation in the OX40L/OX40 system and plasma lipid and lipoprotein levels in a Chinese hypertriglyceridemic population
Q48030206Genetic variation of TLR2 and TLR4 among the Saudi Arabian population: insight into the evolutionary dynamics of the Arabian Peninsula
Q87292186Genetic variations in the xenobiotic-metabolizing enzymes CYP1A1, CYP1A2, CYP2C9, CYP2C19 and susceptibility to colorectal cancer among Turkish people
Q50590612Genetic variations of VEGF gene were associated with tetralogy of fallot risk in a Chinese Han population.
Q92388359Genetics Is Forging New Frontiers in Mental Health Care: A Patient-Centered Collaborative Approach Will Smooth the Journey
Q35682527Genetics providers and the family covenant: connecting individuals with their families
Q24615511Genetics, environment, and diabetes-related end-stage renal disease in the Canary Islands
Q91611199Genome-Wide mRNA-Seq Profiling Reveals that LEF1 and SMAD3 Regulate Epithelial-Mesenchymal Transition Through the Hippo Signaling Pathway During Palatal Fusion
Q43171548Genomic and linguistic affinities: a study of allelic and haplotype diversity at DRD2 locus among the tribes of Gujarat, western India
Q30573833Genomics education for the public: perspectives of genomic researchers and ELSI advisors
Q81352526Genotype-based screening for hereditary hemochromatosis: II. Attitudes toward genetic testing and psychosocial impact--a report from a German pilot study
Q40361971Genotype-phenotype correlation in patients with familial Mediterranean fever in East Anatolia (Turkey).
Q30868904Genotyping data and novel haplotype diversity of STR markers in the SLC26A4 gene region in five ethnic groups of the Iranian population.
Q50451300Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss.
Q54323027Genotyping the CRHR1 rs242939 (A>G) polymorphism by a one-step tetra primer-amplification refractory mutation system-polymerase chain reaction.
Q34385384Genotyping the GGGCGG tandem repeat promoter polymorphism in the 5-lipoxygenase enzyme gene (ALOX5) by pyrosequencing assay.
Q28144308Geography of HFE C282Y and H63D mutations
Q51184880Germinal mosaicism in a sample of families with Duchenne/Becker muscular dystrophy with partial deletions in the DMD gene.
Q40415679Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer
Q83524552Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population
Q46109006Glutathione S-transferase M1 and T1 gene polymorphisms and risk of hypertension in tea garden workers of North-East India
Q43254059Glutathione S-transferase M1 and T1 genes and susceptibility to chronic myeloid leukemia: a meta-analysis
Q45169002Glyoxalase I and aldose reductase gene polymorphisms and susceptibility to carotid atherosclerosis in type 2 diabetes
Q54394294HER-2/neu gene codon 655 (Ile/Val) polymorphism in breast carcinoma patients.
Q78178747HER-2/neu oncogene amplification in cervical cancer studied by fluorescent in situ hybridization
Q39116537HER2 polymorphisms and breast cancer in Tunisian women
Q81468041HFE C282Y homozygotes aged 25-29 years at HEIRS Study initial screening
Q73717908HFE alleles in an Irish cystic fibrosis population
Q64977762HFE genotype frequencies in consecutive reference laboratory specimens: comparisons among referral sources and association with initial diagnosis.
Q38142323HIF-1α C1772T polymorphism and gastrointestinal tract cancer risk: a meta-analysis and meta-regression analysis
Q51337949HLA B27 subtype distribution among patients with ankylosing spondylitis in eastern Turkey.
Q91846056HLA-DQ Typing Kits in Diagnosis and Screening for Celiac Disease
Q34780228Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population
Q33888421Haplotype analysis of the XRCC1 gene and laryngeal cancer
Q46077319Haplotype diversity and linkage disequilibrium at DRD2 locus--a study on four population groups of Andhra Pradesh, India
Q84211456Haplotype of the C61G BRCA1 mutation in Polish and Jewish individuals
Q83532372Haplotype structures of common variants of CYP2C8, CYP2C9, and ADRB1 genes in a South Indian population
Q36041704Haptoglobin 2-2 genotype is associated with increased risk of type 2 diabetes mellitus in northern Chinese
Q84299442Haptoglobin genotypes in sickle-cell disease
Q53709775Harnessing the Power of Next-Generation Sequencing.
Q34405743Health-care referrals from direct-to-consumer genetic testing
Q52034631Health-related quality-of-life assessment of prenatal diagnosis: chorionic villi sampling and amniocentesis.
Q53249656Helicobacter pylori infection and MDM2 SNP309 association with gastric cancer susceptibility.
Q51435891Hemoglobin Showa-Yakushiji: a common β thalassemia mutation among the Agri community from western India.
Q40348591Hemoglobin Variants in Northern Thailand: Prevalence, Heterogeneity and Molecular Characteristics
Q43874797Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.
Q57942611Hereditary Hemochromatosis in Spain
Q35877549Hereditary hemochromatosis genetic testing of at-risk children: what is the appropriate age?
Q82075274Hereditary hemochromatosis: awareness and genetic testing acceptability in Western Romania
Q74613711Hereditary hemochromatosis: the clinical significance of the S65C mutation
Q33555443Hereditary nonpolyposis colorectal cancer family members' perceptions about the duty to inform and health professionals' role in disseminating genetic information
Q48001023Heteroduplex-based genotyping with microchip electrophoresis and dHPLC.
Q45042090Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy
Q96692437High Expression Levels of the SOCS3 Gene Are Associated with Acute Myocardial Infarction
Q91192722High Expression of ABRACL Is Associated with Tumorigenesis and Affects Clinical Outcome in Gastric Cancer
Q88556132High Expression of PLOD1 Drives Tumorigenesis and Affects Clinical Outcome in Gastrointestinal Carcinoma
Q79327683High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing
Q34578322High expression of epidermal growth factor receptor might predict poor survival in patients with colon cancer: a meta-analysis
Q40248712High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss
Q44602678High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness.
Q78178517High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin
Q34117173High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects
Q82867091High incidence of deafness from three frequent connexin 26 mutations in an isolated community
Q50482905High incidence of profound deafness in an isolated community.
Q44671256High incidence of two methylenetetrahydrofolate reductase mutations (C677T and A1298C) in Hispanics
Q46676618High prevalence of MTHFR gene A1298C polymorphism in Lebanon
Q33721275High school genetics education and Alzheimer disease
Q54154410High-Level Expression of microRNA-21 in Peripheral Blood Mononuclear Cells Is a Diagnostic and Prognostic Marker in Prostate Cancer.
Q38397317High-quality and -quantity DNA extraction from frozen archival blood clots for genotyping of single-nucleotide polymorphisms
Q54343507High-resolution melting analyses for gene scanning of APC, MLH1, MSH2, and MSH6 associated with hereditary colorectal cancer.
Q83925818High-resolution melting analysis is a more effective approach for screening TSC genes mutations
Q35180495High-resolution melting analysis of MED12 mutations in uterine leiomyomas in Chinese patients
Q36553971High-resolution melting analysis of the TPMT gene: a study in the Polish population.
Q34112106High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique
Q73561044High-risk genotype for type 1 diabetes: a new simple microtiter plate-based ELOSA assay
Q80521237High-risk premenopausal women's experiences of undergoing prophylactic oophorectomy: a descriptive study
Q38421924High-throughput genotyping on archived dried blood spot samples
Q54489631High-throughput identification of mutations using a combination of CEL I fragmentation and SAGE technology.
Q91001337Higher DNA Yield for Epidemiological Studies: A Better Method for DNA Extraction from Blood Clot
Q100308290HnRNPA2/B1 Is a Novel Prognostic Biomarker for Breast Cancer Patients
Q35966997Homeobox C9 is not potentially related to congenital heart disease in Chinese patients
Q54667700Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation.
Q35119699Human equilibrative nucleoside transporter 1 predicts survival in patients with pancreatic cancer treated with gemcitabine: a meta-analysis
Q53161302Human leukocyte antigen-DQA1 gene allelic distribution: experience of a major tertiary care center in Lebanon.
Q39800921Human leukocyte antigen-DRB1 class II genes in Mexican Amerindian Mazahuas: genes and languages do not correlate
Q35877553Human subject protections in genetic research
Q47414789Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?
Q54387278Hypoxia-inducible factor-1 alpha C1772T gene polymorphism and glioma risk: a hospital-based case-control study from China.
Q45043556I219V polymorphism in hMLH1 gene in patients affected with ulcerative colitis.
Q35006957IMPDH2 genetic polymorphism: a promoter single-nucleotide polymorphism disrupts a cyclic adenosine monophosphate responsive element
Q36092734ISL1 common variant rs1017 is not associated with susceptibility to congenital heart disease in a Chinese population
Q39927253IVS4-14 A/G and IVS4-73 C/T polymorphisms in OLR1 gene in patients with ischemic cerebrovascular diseases
Q50683920IVSII-666 of human beta-globin gene: a polymorphic marker linked to codon 8(-AA) mutation.
Q101118443Identification of Causative Variants Contributing to Nonsyndromic Orofacial Clefts Using Whole-Exome Sequencing in a Saudi Family
Q91266074Identification of Chromosomal Regions Linked to Diabetic Nephropathy: A Meta-Analysis of Genome-Wide Linkage Scans
Q50044691Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing
Q90843370Identification of Hepatocellular Carcinoma-Related Potential Genes and Pathways Through Bioinformatic-Based Analyses
Q92335529Identification of Key Genes Potentially Related to Intervertebral Disk Degeneration by Microarray Analysis
Q95328801Identification of Multiple High-Risk Human Papillomavirus Infections in a Rural Population of Canatlan, Durango, Mexico
Q91791428Identification of Novel CXCL12 Genetic Polymorphisms Associated with Type 2 Diabetes Mellitus: A Chinese Sib-Pair Study
Q100568407Identification of Novel EYS Mutations by Targeted Sequencing Analysis
Q93060353Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India
Q87420626Identification of Novel Variants in the PVRL1 Gene in Patients With Nonsyndromic Cleft Lip With or Without Cleft Palate
Q42665293Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction
Q98193253Identification of Potential Hub Genes and Signal Pathways Promoting the Distinct Biological Features of Cord Blood-Derived Endothelial Progenitor Cells Via Bioinformatics
Q50434734Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.
Q90494803Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome
Q36549285Identification of a CYP19 Gene Single-Nucleotide Polymorphism Associated with a Reduced Risk of Coronary Heart Disease
Q47633838Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing
Q91821070Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes
Q59273940Identification of a Novel Mutation in FOXL2 Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family
Q62393932Identification of a Novel Mutation in the ARSB Gene That Is Frequent Among Brazilian MPSVI Patients
Q50067390Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing
Q44487290Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia
Q50475101Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.
Q52595423Identification of a novel pathogenic mutation in BRCA2 in a Spanish breast-ovarian cancer family.
Q93097984Identification of an Exosomal Long Noncoding RNA SOX2-OT in Plasma as a Promising Biomarker for Lung Squamous Cell Carcinoma
Q30586706Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
Q43259054Identification of deletion carriers in X-linked chronic granulomatous disease by real-time PCR.
Q54473733Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR.
Q51702829Identification of duchenne muscular dystrophy female carriers by fluorescence in situ hybridization and RT-PCR.
Q34046162Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening
Q39937621Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses
Q81432202Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques
Q33888370Identification of miR-423 and miR-499 polymorphisms on affecting the risk of hepatocellular carcinoma in a large-scale population
Q35967003Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population
Q51038069Identification of new genes downregulated in prostate cancer and investigation of their effects on prognosis.
Q39300033Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy
Q81352516Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients
Q83189109Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy
Q47909607Identification of patients at high risk of psychological distress after BRCA1 genetic testing
Q83359578Identification of promoter region methylation patterns of MGMT, CDKN2A, GSTP1, and THBS1 genes in intracranial meningioma patients
Q50435504Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells.
Q73742304Identification of the Hind III polymorphic site in the PAI-1 gene: analysis of the PAI-1 Hind III polymorphism by PCR
Q28660390Identification of the variations in the CPT1B and CHKB genes along with the HLA-DQB1*06:02 allele in Turkish narcolepsy patients and healthy persons
Q36789447Identification of two novel mutations of the HOMEZ gene in Chinese patients with isolated ventricular septal defect
Q112298551Identifying 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
Q46714881Impact of 677C>T mutation of the 5,10-methylenetetrahydrofolate reductase on IVF outcome: is screening necessary for all infertile women?
Q40587381Impact of ABCB1 single-nucleotide polymorphisms on treatment outcomes with salmeterol/fluticasone combination therapy for stable chronic obstructive pulmonary disease
Q73356695Impact of BRCA1 testing on women with cancer: a pilot study
Q47728301Impact of CYP2D6 Polymorphisms on Postoperative Fentanyl Analgesia in Gastric Cancer Patients
Q44946303Impact of EXO1 polymorphism in susceptibility to colorectal cancer
Q58461845Impact of Genetic Testing for Breast–Ovarian Cancer Susceptibility
Q50434664Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant.
Q51922913Impact of genetic counseling and DNA testing on individuals with colorectal cancer with a positive family history: a population-based study.
Q60689205Impact of genetic counseling and testing on colorectal cancer screening behavior
Q78823857Impact of genetic counseling and testing on colorectal cancer screening behavior
Q73742287Impact of genetic privacy legislation on insurer behavior
Q53094065Implementation of a High-Resolution Single-Nucleotide Polymorphism Array in Analyzing the Products of Conception.
Q80757022Implementation 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
Q54391628Implementation of a cost-effective unlabeled probe high-resolution melt assay for genotyping of Factor V Leiden.
Q38072459Implementation of the Cepheid Xpert EV assay for rapid detection of enteroviral meningitis: experience of a tertiary care center and a technical review
Q44863550Implications of molecular diagnostic testing in families with hereditary pancreatitis
Q81432187Implications of the age range in a population-based BRCA1 testing program with eligibility based on family history of breast and ovarian cancer
Q48483224Importance of NOS3 genetic polymorphisms in the risk of development of ischemic stroke in the Turkish population
Q43597110Improved efficiency of mutation detection by denaturing high-performance liquid chromatography using modified primers and hybridization procedure
Q54682789Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.
Q104610662Improvement 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
Q94562997In Silico Identification of Crucial Genes and Specific Pathways in Hepatocellular Cancer
Q114633898In Silico-Analysis of the Multi-Omics Data Identified the Ataxia Telangiectasia Mutated Gene as a Potential Biomarker of Breast Invasive Carcinoma
Q52102363Incidence of chromosomal mosaicism in human embryos at different developmental stages analyzed by fluorescence in situ hybridization.
Q48000940Incidence of fragile X in 5,000 consecutive newborn males.
Q98154851Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders
Q91420226Increased Levels of miR-155 are Related to Higher T-Cell Activation in the Peripheral Blood of Patients with Chronic Hepatitis B
Q54312726Increased T-allele frequency of 677 C>T polymorphism in the methylenetetrahydrofolate reductase gene in differentiated thyroid carcinoma.
Q45097925Increased gastric cancer risk with PTEN IVS4 polymorphism in a Turkish population
Q43284137Increased risk for atherosclerosis of various macrophage scavenger receptor 1 alleles
Q84599387Increased risk for gastric cancer in carriers of the lymphotoxin-α+252G variant infected by Helicobacter pylori
Q51571940Increasing role of cytogenetics in pediatric practice.
Q92509168Independent 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
Q51298302Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms.
Q36376488Inference of the Genetic Polymorphisms of CYP2D6 in Six Subtribes of the Malaysian Orang Asli from Whole-Genome Sequencing Data
Q38918148Inflammatory bowel disease: susceptibility and disease heterogeneity revealed by human leukocyte antigen genotyping
Q40982163Influence of Polymorphism (-G308A) TNF-α on the Periportal Fibrosis Regression of Schistosomiasis After Specific Treatment
Q47583174Influence of a TNF-α Polymorphism on the Severity of Schistosomiasis Periportal Fibrosis in the Northeast of Brazil
Q48420732Influence of brain-derived neurotrophic factor genetic polymorphisms on the ages of onset for heroin dependence in a Chinese population
Q39583850Influence of gelatinase B polymorphic variants and its serum levels in atherosclerosis
Q38941165Influence of methylenetetrahydrofolate reductase C677T gene polymorphisms in Algerian infertile men with azoospermia or severe oligozoospermia
Q46700021Influence of the functional polymorphisms in the organic anion transporting polypeptide 1B1 in the susceptibility to colorectal cancer.
Q40484323Influences of IL-1b-3953 C>T and MMP-9-1562C >T Gene Variants on Myocardial Infarction Susceptibility in a Subset of the Iranian Population.
Q53262702Influences of multiple genetic polymorphisms on ovarian cancer risk in Malaysia.
Q56783201Information and consent in internet paternity testing: focus on minors' protection in Italy
Q36810317Information needs of mothers regarding communicating BRCA1/2 cancer genetic test results to their children
Q47992208Informing carriers of beta-thalassemia: giving the good news
Q45764766Informing public health policy through deliberative public engagement: perceived impact on participants and citizen-government relations.
Q46434809Inherited thrombophilia genes in minorities
Q51509206Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in whites and blacks in the Hemochromatosis and Iron Overload Screening Study.
Q54394310Insulin receptor H1085H C>T and insulin receptor substrate 1 G972R polymorphisms and prostate cancer risk: a pilot study.
Q39621771Insulin-like growth factor system in Egyptian children with acute lymphoblastic leukemia
Q98154858Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy
Q64129246Interaction Between AGTR1 and PPARγ Gene Polymorphisms on the Risk of Nonalcoholic Fatty Liver Disease
Q36925742Interaction Between CYP4F2 rs2108622 and CPY4A11 rs9333025 Variants Is Significantly Correlated with Susceptibility to Ischemic Stroke and 20-Hydroxyeicosatetraenoic Acid Level
Q50093381Interaction Between Rare Variants in NOTCH1 and Betel Quid Chewing in Oral Squamous Cell Carcinoma
Q45849963Interaction of genetic risk factors confers increased risk for metabolic syndrome: the role of peroxisome proliferator-activated receptor γ.
Q54301399Interaction of the dopaminergic and serotonergic systems significantly influences the risk for multisomatoform disorder: a controlled pilot study.
Q51770954Interactions Between PPARG and AGTR1 Gene Polymorphisms on the Risk of Hypertension in Chinese Han Population.
Q89291342Interactions of Pri-miRNA-34b/c and TP53 Polymorphisms on the Risk of Osteoporosis
Q39684629Interest in newborn genetic testing: a survey of prospective parents and the general public
Q44367308Interleukin 4-590T/C polymorphism and susceptibility to leprosy
Q51336410Interleukin 6 (IL-6) and IL-10 Promoter Region Polymorphisms Are Associated with Risk of Lumbar Disc Herniation in a Northern Chinese Han Population.
Q54352609Interleukin-10 (-1082G/A) gene polymorphism in patients with type 2 diabetes with and without nephropathy.
Q54455760Interleukin-16 gene polymorphisms rs4778889, rs4072111, rs11556218, and cancer risk in Asian populations: a meta-analysis.
Q48578785Interleukin-16 polymorphism is associated with an increased risk of glioma
Q45899614Interleukin-2 gene polymorphisms and prognosis of breast cancer.
Q36408096Interleukin-6 receptor gene 48892 A/C polymorphism is associated with metabolic syndrome in female Taiwanese adolescents.
Q53149865International Rare Disease Research Consortium commits to aggressive goals.
Q48454568International Standard Cytogenomic Array Consortium. Interview by Alyson Krokosky, Sharon F Terry
Q34870084Interpopulation variation frequency of human inosine 5'-monophosphate dehydrogenase type II (IMPDH2) genetic polymorphisms.
Q78178561Introduction to PCR/OLA/SCS, a multiplex DNA test, and its application to cystic fibrosis
Q41757251Introduction: Hemochromatosis population screening
Q41116470Intron 4 of the RH Gene in Han Chinese, Tibetan, and Mongol Populations
Q53203939Investigation 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.
Q34205525Investigation of KIF6 Trp719Arg in a case-control study of coronary artery disease in Western Indians
Q85901627Investigation of NKX2.5 gene mutations in congenital heart defects in an Indian population
Q53273829Investigation of a possible relationship between EPHX1 gene polymorphisms and colorectal cancer in Turkish society.
Q54397286Investigation of association between Angiotensin-converting enzyme gene insertion/deletion polymorphism frequency in Turkish patients with schizophrenia.
Q46459101Investigation 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
Q44587059Investigation of epistasis between DAOA and 5HTR1A variants on clinical outcomes in patients with schizophrenia
Q54237344Investigation of poly (ADP-ribose) polymerase-1 genetic variants as a possible risk for allergic rhinitis.
Q54189178Invivoscribe BIOMED-2 primer mixes in B-cell immunoglobulin gene rearrangement studies: experience of a molecular diagnostics laboratory in a major tertiary care center.
Q77480356Involvement of CFTR gene alterations in obstructive and nonobstructive infertility in men
Q35752169Involvement of single-nucleotide polymorphisms in predisposition to head and neck cancer in Saudi Arabia
Q54319270Is MMP-7 gene polymorphism a possible risk factor for chronic obstructive pulmonary disease in Turkish patients.
Q40330097Is Serum Angiotensin-Converting Enzyme Level Useful For Determining Necroinflammatory Activity In Chronic Hepatitis B Infection?
Q84010482Is the apolipoprotein E4 allele always hazardous? Serum uric acid level as a conflict
Q78178513Is the hemochromatosis gene a modifier locus for cystic fibrosis?
Q44591550Is 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?
Q85441635Is this a genesis in prenatal testing: genomic knowledge, risk or benefit?
Q73717892Issues in newborn screening
Q96963415It Is in Our DNA, But You Wouldn't Know
Q54355011JAK-1 rs2780895 C-related genotype and allele but not JAK-1 rs10789166, rs4916008, rs2780885, rs17127114, and rs3806277 are associated with higher susceptibility to asthma.
Q36308205JAK1 gene polymorphisms are associated with the outcomes of hepatitis B virus infection, but not with α interferon therapy response in a Han Chinese population
Q54348039JAK2 V617F "indeterminate" results by MutaScreen can be easily resolved using MutaQuant kits.
Q39797672JAK2 V617F gene mutation in the laboratory work-up of myeloproliferative disorders: experience of a major referral center in Lebanon
Q54456736JAK2 V617F mutation detection: laboratory comparison of two kits using RFLP and qPCR.
Q39656765JAK2 V617F mutation prevalence in myeloproliferative neoplasms in Pernambuco, Brazil
Q37067021JMY polymorphism is related to severity of ankylosing spondylitis in Chinese Han patients
Q82916526Killer cell immunoglobulin-like receptor (KIR) genotypes in patients with recurrent tonsillitis
Q39983418Killer cell immunoglobulin-like receptor genotypes in Behçet's disease patients: any role for the 3DP1*001/002 pseudogene?
Q88891857Knockdown of LncRNA-XIST Suppresses Proliferation and TGF-β1-Induced EMT in NSCLC Through the Notch-1 Pathway by Regulation of miR-137
Q44704415Knowledge about hereditary colorectal cancer among colorectal cancer survivors
Q81693424Knowledge, attitudes, and utilization of BRCA1/2 testing among women with early-onset breast cancer
Q50119651LARaLink 2.0: a comprehensive aid to basic and clinical cytogenetic research
Q58376313LMNA, ZMPSTE24, and LBR Are Not Mutated in Scleroderma
Q46990943LOC387761 polymorphism is associated with type 2 diabetes in the Mexican population
Q44735167Laboratory referral rates of genetic tests for thrombophilia workup in a major referral center
Q37980908Laboratory-developed test--SynFRAME: an approach for assessing laboratory-developed tests synthesized from prior appraisal frameworks
Q51570657Lack of Association Between Polymorphism rs4986791 in TLR4 and Primary Open-Angle Glaucoma in a Saudi Cohort.
Q86749521Lack of Association Between Polymorphisms in AGT and ATR1 and IgA Nephropathy in a Chinese Population
Q48455892Lack of association between CX3CR1 V249I and T280M polymorphisms and risk of Parkinson's disease in a Greek population
Q54342859Lack of association between MTHFR C677T and A1298C polymorphisms and risk of childhood acute lymphoblastic leukemia in the Kurdish population from Western Iran.
Q51364862Lack of association between essential hypertension and GSTO1 uncommon genetic variants in Italian patients.
Q43556498Lack 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
Q73356714Lack of association of ACE/angiotensinogen genotype with renal function in autosomal dominant polycystic kidney disease
Q39480444Lack of association of CYP1A1 polymorphism with prostate cancer susceptibility of Tunisian men.
Q83755325Lack of association of EPHX1 genotypes and haplotypes with oral cancer in South Indians
Q46178685Lack of germ-line promoter methylation in BRCA1-negative families with familial breast cancer.
Q51925023Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.
Q54442164Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient.
Q45999858Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate.
Q74210371Large-scale screening for HFE mutations: methodology and cost
Q50432530Large-scale screening of mitochondrial DNA mutations among Iranian patients with prelingual nonsyndromic hearing impairment.
Q57735537Leiden V Factor and Spastic Cerebral Palsy in Mexican Children
Q92143754Let's Keep the Sharing Alive
Q92592403Let's Talk About Sex: Understanding Gender Beyond Genetics
Q42763095Let's try it: me for you.
Q60689202Letter to the Editor
Q40609627Likelihood of attending bowel screening after a negative genetic test result: the possible influence of health professionals
Q44407560Linkage and association between interleukin-6 gene polymorphisms and ischemic stroke: a family-based study in the northern Chinese Han population
Q30882257Linking personal health data to genomic research
Q88421119Liquid Biopsies
Q92648560Liquid Biopsy in Solid Malignancy
Q91841419Liver Enzymes and the Risk of Atrial Fibrillation: A Meta-Analysis of Prospective Cohort Studies
Q38569674Living without a diagnosis: the parental experience.
Q47215076LncRNA Expression Signature in Prediction of the Prognosis of Lung Adenocarcinoma
Q96222499LncRNAs H19 and MEG3 as Universal Indicators of Metabolic Derangements?
Q92658090Long Noncoding RNA HOX Transcript Antisense RNA Gene rs17720428 Single Nucleotide Polymorphism Is Associated with Gastric Cancer Risk and Prognosis
Q93210525Long Noncoding RNA MRPL39 Inhibits Gastric Cancer Proliferation and Progression by Directly Targeting miR-130
Q93060362Long Noncoding RNA SERTAD2-3 Inhibits Osteosarcoma Proliferation and Migration by Competitively Binding miR-29c
Q92067657Long Noncoding RNAs as Prognostic Markers for Colorectal Cancer in Saudi Patients
Q90057559Long-Chain Noncoding RNA PVT1 Gene Polymorphisms Are Associated with the Risk and Prognosis of Colorectal Cancer in the Han Chinese Population
Q47747986Long-Term Influence of CYP3A5, CYP3A4, ABCB1, and NR1I2 Polymorphisms on Tacrolimus Concentration in Chinese Renal Transplant Recipients
Q52720362Low Expression of Long Noncoding RNA IRAIN Is Associated with Poor Prognosis in Non-M3 Acute Myeloid Leukemia Patients.
Q91356782Low Gonadotropin Dosage Reduces Aneuploidy in Human Preimplantation Embryos: First Clinical Study in a UAE Population
Q36092750Low expression of stathmin in tumor predicts high response to neoadjuvant chemotherapy with docetaxel-containing regimens in locally advanced breast cancer
Q44698789Low prevalence and variable clinical presentation of troponin I and troponin T gene mutations in hypertrophic cardiomyopathy
Q39159017Low prevalence of p.G352fsdelG mutation in phenylketonuria patients from Morocco
Q50093235Lysophosphatidic Acid is a Biomarker for Peritoneal Carcinomatosis of Gastric Cancer and Correlates with Poor Prognosis
Q47853174Lysyl oxidase G473A polymorphism is associated with increased risk of ovarian cancer
Q82496365MCP-1 and CCR2 gene variants and the risk for osteoporosis and osteopenia
Q38140061MCP-1-2518A>G polymorphism and myocardial infarction risk: a meta-analysis and meta-regression
Q37628529MDR1 gene polymorphisms are associated with glucocorticoid-induced avascular necrosis of the femoral head in a Chinese population
Q38984490MEFV gene mutations in Egyptian patients with familial Mediterranean fever
Q51626872MICA gene polymorphism not associated with nonsyndromic cleft lip with or without cleft palate in the Japanese population?
Q92486530MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study
Q51592186MMP-9 1562C>T Gene Polymorphism and Efficacy of Glucocorticoid Therapy in Idiopathic Pulmonary Fibrosis Patients.
Q38971454MMP1, 2, 3, 7, and 9 gene polymorphisms and urinary cancer risk: a meta-analysis
Q46023766MTHFR 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.
Q43259055MTHFR C677T and factor V Leiden in recurrent pregnancy loss: a study among an endogamous group in North India
Q45931443MTHFR C677T genotype frequency in patients of Middle Eastern descent as determined by real-time PCR and melting curve analysis.
Q53149294MTHFR polymorphic variant C677T is associated to vascular complications in sickle-cell disease.
Q42574051MTR, MTRR, and MTHFR Gene Polymorphisms and Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate
Q50738173MTRR 66A>G polymorphism as maternal risk factor for Down syndrome: a meta-analysis.
Q46225217MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C Polymorphisms and Disease Activity in Mexicans with Rheumatoid Arthritis Treated with Methotrexate
Q53503946MYD88 expression and L265P mutation in mature B-cell non-Hodgkin lymphomas.
Q54355731Major histocompatibility complex class I chain-related gene polymorphisms: associated with susceptibility to Kawasaki disease and coronary artery aneurysms.
Q81432243Managing familial risk in genetic testing
Q34190871Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit
Q83189112Mapping of microsatellite instability in endoscopic normal colon
Q37067016Marker gene screening for human mesenchymal stem cells in early osteogenic response to bone morphogenetic protein 6 with DNA microarray
Q38241271Maternal plasma DNA testing: experience of women counseled at a prenatal diagnosis center
Q47174422Maternal weight correction for alpha-fetoprotein: mathematical truncations revisited
Q37092201Medical errors related to inappropriate genetic testing in liver transplant patients
Q45300391Medical students' attitudes toward genetic testing of minors
Q91335866Melanocortin 4 Receptor Gene Sequence Analyses in Diverse Populations
Q57314780Men at Increased Risk of Developing Breast Cancer: Language Preferences for Naming a Cancer-Related Mutation
Q88472806Meta-Analysis of the Relation Between IL10 Promoter Polymorphisms and Autoimmune Liver Disease Risk
Q78178672Meta-PCR: a novel method for creating chimeric DNA molecules and increasing the productivity of mutation scanning techniques
Q47609227Meta-analysis of GJB2 mutation 35delG frequencies in Europe
Q39229702Meta-analysis of associations between the peroxisome proliferator-activated receptor-γ Pro12Ala polymorphism and susceptibility to nonalcoholic fatty liver disease, rheumatoid arthritis, and psoriatic arthritis
Q98572760Metabolic Markers of Chronic Disease States
Q39570310Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism.
Q33178815Methylation analysis of the fragile X syndrome by PCR.
Q51380630Methylation of CDX2 as a Predictor in Poor Clinical Outcome of Patients with Colorectal Cancer.
Q104610699Methylation of the Sclerostin (SOST) Gene in Serum Free DNA: A New Bone Biomarker?
Q33864044Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities
Q35836803Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome
Q84908800Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b
Q43265635Methylenetetrahydrofolate reductase and angiotensin-converting enzyme gene polymorphisms among Saudi population from Qassim region
Q39447741Methylenetetrahydrofolate reductase gene polymorphisms in Egyptian women with unexplained recurrent pregnancy loss
Q44132206Methylenetetrahydrofolate reductase gene polymorphisms in Turkish children with attention-deficit/hyperactivity disorder
Q87436690Methylenetetrahydrofolate reductase polymorphism C677T is a protective factor for pediatric acute lymphoblastic leukemia in the Chinese population: a meta-analysis
Q54394479Methylenetetrahydrofolate reductase polymorphisms C677T and A1298C as maternal risk factors for Down syndrome in Jordan.
Q50306230Methylenetetrahydrofolate reductase polymorphisms C677T and risk of autism in the Chinese Han population.
Q46351682Methylenetetrahydrofolate reductase polymorphisms are related to male infertility in Brazilian men.
Q51566494Mexican Childhood Acute Lymphoblastic Leukemia: A Pilot Study of the MDR1 and MTHFR Gene Polymorphisms and Their Associations with Clinical Outcomes.
Q39973320MiRNA-Related Polymorphisms in miR-146a and TCF21 Are Associated with Increased Susceptibility to Coronary Artery Disease in an Iranian Population.
Q39054928Micro RNA-146a But Not IRAK1 is Associated with Rheumatoid Arthritis in the Tunisian Population
Q46653668MicroRNA 146a expression in rheumatoid arthritis: association with tumor necrosis factor-alpha and disease activity.
Q94460130MicroRNA Binding Site Polymorphisms of the Long-Chain Noncoding RNA MALAT1 are Associated with Risk and Prognosis of Colorectal Cancer in Chinese Han Population
Q40540244MicroRNA Gene Polymorphisms in Evaluating Therapeutic Efficacy After Transcatheter Arterial Chemoembolization for Primary Hepatocellular Carcinoma
Q46258094MicroRNA-146a, a good biomarker and potential therapeutic target for rheumatoid arthritis
Q40388650MicroRNA-223 Is Upregulated in Active Tuberculosis Patients and Inhibits Apoptosis of Macrophages by Targeting FOXO3.
Q54722283MicroRNAs Come of Age in Diagnostics.
Q43107320Microarray-based detection of CYP1A1, CYP2C9, CYP2C19, CYP2D6, GSTT1, GSTM1, MTHFR, MTRR, NQO1, NAT2, HLA-DQA1, and AB0 allele frequencies in native Russians.
Q38327245Microarray-based detection of mannose-binding lectin 2 (MBL2) polymorphisms in a routine clinical setting
Q39157545Microsomal Epoxide Hydrolase Gene Polymorphisms and Susceptibility to Chronic Obstructive Pulmonary Disease in the Tunisian Population
Q53672359Might there be a link between intron 3 VNTR polymorphism in the XRCC4 DNA repair gene and the etiopathogenesis of rheumatoid arthritis?
Q54539976Misclassification of allele CYP2C19*10 as CY2C19*2 by a commonly used PCR-RFLP procedure.
Q36553950Mitochondrial 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
Q39052168Mitochondrial DNA Copy Number in Egyptian Patients with Hepatitis C Virus-Related Hepatocellular Carcinoma
Q36225178Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort
Q83814300Mitochondrial insertion-deletion polymorphism: role in disease pathology
Q46738499Modification of the coronary artery disease risk associated with the presence of traditional risk factors by insertion/deletion polymorphism of the ACE gene.
Q41468892Modified tetra-primer ARMS PCR as a single-nucleotide polymorphism genotyping tool.
Q57235049Molecular Analysis in Brazilian Cystic Fibrosis Patients Reveals Five Novel Mutations
Q50310624Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
Q93060357Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing
Q93264741Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family
Q91896291Molecular Diagnostics of Cystic Fibrosis in Serbia: Our Approach to Meet the Diagnostic Challenges
Q40462159Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation.
Q91971087Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing
Q92750749Molecular 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
Q91001335Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients
Q58835415Molecular Study of the PCA3 Gene: Genotypic Analysis of PCA3 Polymorphism -845G>A and Metastatic Prostate Cancer
Q28295638Molecular analysis of alpha/beta-thalassemia in a southern Chinese population
Q43005312Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect
Q98229156Molecular and Biochemical Parameters Related to Plasma Mannose Levels in Coronary Artery Disease Among Nondiabetic Patients
Q40352212Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.
Q39811704Molecular and hematological characterization of hemoglobin H disease in the Bengali population of Kolkata, India
Q38862460Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity.
Q54578152Molecular basis of cystic fibrosis in Lithuania: incomplete CFTR mutation detection by PCR-based screening protocols.
Q39700134Molecular basis of β-thalassemia in Karnataka, India.
Q54394482Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.
Q50631498Molecular characterization of Prader-Willi syndrome by real-time PCR.
Q73356684Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses
Q53160895Molecular 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.
Q49168790Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate
Q46825007Molecular genetic testing in the United States: comparison with international practice
Q54077358Molecular genetic testing of beta-thalassemia patients of Indian origin and a novel 8-bp deletion mutation at codons 36/37/38/39.
Q48647138Molecular genetics external quality assessment pilot scheme for KRAS analysis in metastatic colorectal cancer
Q34440012Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations
Q79671626Molecular mechanisms underlying thalassemia intermedia in Iran
Q38418993Molecular monitoring of response to imatinib (Glivec) in chronic myeloid leukemia patients: experience at a tertiary care hospital in Saudi Arabia
Q83150305Molecular pathogenesis of endometriosis; Toll-like receptor-4 A896G (D299G) polymorphism: a novel explanation
Q54270490Molecular prenatal diagnosis of autosomal recessive spinal muscular atrophies using quantification polymerase chain reaction.
Q39460732Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role
Q51951069Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation.
Q82609614Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens
Q38866311Molecular spectrum of PIK3CA gene mutations in patients with nonsmall-cell lung cancer in Turkey
Q47998969Molecular spectrum of alpha-thalassemia mutations in microcytic hypochromic anemia patients from Saudi Arabia
Q36614014Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland
Q91728233More Than Meets the Eye: Our Microbiome May Be Key to Decreasing Infection
Q48611815Motivations and concerns of women considering genetic testing for breast cancer: a comparison between affected and at-risk probands
Q34283887Moving forward: putting genetic testing to use
Q51872862Multiallelic synthetic quality control material: lessons learned from the cystic fibrosis external quality assessment scheme.
Q40066874Multiple de novo mutations in the MECP2 gene
Q53872395Multiplex PCR-RFLP assay for detection of factor V Leiden and prothrombin G20210A.
Q40065160Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements
Q36476787Multiplex allele-specific amplification from whole blood for detecting multiple polymorphisms simultaneously
Q50483257Multiplex detection of common mutations in the Connexin-26 gene.
Q48000965Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients
Q54325293Multiplex quantitative fluorescent polymerase chain reaction for detection of aneuploidies.
Q54447160Mutation Analysis and Prenatal Exclusion of Fibrodysplasia Ossificans Progressiva in a Chinese Fetus.
Q91823363Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations
Q90998694Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia
Q45861794Mutation analysis and genetic service: the construction and use of national confidential databases of mutations and pedigrees
Q36225189Mutation analysis in Chinese patients with Cornelia de Lange syndrome
Q41922990Mutation analysis in Rett syndrome
Q33149057Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A.
Q44487284Mutation analysis of SLC7A9 in cystinuria patients in Sweden
Q33498099Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients
Q80521242Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India
Q36174305Mutation analysis of isocitrate dehydrogenase in acute lymphoblastic leukemia
Q46738495Mutation analysis of oxisterol-binding-protein gene in patients with age-related macular degeneration
Q83386311Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations
Q35752173Mutation analysis of the CYP21A2 gene in the Iranian population
Q54431702Mutation analysis of the HBB gene in selected Bangladeshi beta-thalassemic individuals: presence of rare mutations.
Q34190852Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate
Q44894059Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes
Q54682783Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.
Q30756569Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan
Q42724509Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment
Q33888417Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder
Q83261524Mutation 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
Q33721323Mutation testing of early-onset breast cancer genes BRCA1 and BRCA2.
Q83925823Mutation-sensitive molecular switch method to detect CES1A2 mutation in the Chinese Han and Yao populations
Q38873589Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms
Q91577257Mutational Screening of GLI3, SHH, and SHH ZRS in 78 Chinese Children with Nonsyndromic Polydactyly
Q78823860Mutational analysis of the hMSH6 gene in familial and early-onset colorectal and endometrial cancer in Israeli patients
Q44528843Mutational analysis of the human dihydropyrimidine dehydrogenase gene by denaturing high-performance liquid chromatography
Q87418699Mutational screening of the SOCS3 gene promoter in metastatic colorectal cancer patients
Q50443443Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness.
Q73015990Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia
Q34405763Mutations in the CHD7 gene: the experience of a commercial laboratory
Q56636874Mutations in the Regulatory Domain of Phenylalanine Hydroxylase and Response to Tetrahydrobiopterin
Q57717361Mutations in the SLC3A1 Gene in Cystinuric Patients: Frequencies and Identification of a Novel Mutation
Q34126079Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India
Q47933682Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia
Q33534828Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria
Q47998919Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
Q54160572Myostatin Gene Polymorphism in an Elderly Sarcopenic Turkish Population.
Q36225184N-acetyltransferase-2 genotypes among patients with rheumatoid arthritis attending Jordan University Hospital
Q39035109NAT2 Genotypes in Moroccan Patients with Hepatotoxicity Due to Antituberculosis Drugs
Q53749205NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.
Q36301665NIST RM 8398: Standardizing Discoveries
Q61657040NKX2.5/NKX2.6 Mutations Are Not a Common Cause of Isolated Type 1 Truncus Arteriosus in a Small Cohort of Multiethnic Cases
Q86905847NPM1 Mutation Detection in Acute Myeloid Leukemia: A Method Comparison Study
Q90302072NUDT15 and TPMT Genetic Polymorphisms Are Related to Azathioprine Intolerance in Chinese Patients with Rheumatic Diseases
Q60631147Neonatal Screening for Hemoglobinopathies: Results of a Public Health System in South Brazil
Q78178476Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus
Q33874867Neural tube defect prevalence in California (1990-1994): eliciting patterns by type of defect and maternal race/ethnicity.
Q47826305New Institute of Medicine Report on Molecular Biomarkers.
Q84485528New analysis method of myotonic dystrophy 1 based on quantitative fluorescent polymerase chain reaction
Q50353838New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.
Q54387288New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy.
Q80974253New mutations in the Wilson disease gene, ATP7B: implications for molecular testing
Q37611020New trends in molecular biomarker discovery for breast cancer.
Q91577250Newborn Screening and Health Communications
Q38458224Newborn screening, informed consent, and future use of archived tissue samples
Q34113851Newborn screening: adapting to advancements in whole-genome sequencing
Q54134358Next-Generation Molecular Diagnostics Provide Evidence Suggestive of a Role for Nontraditional Bacterial Pathogens in Osteoarthritis of the Knee.
Q36367741Next-Generation Testing for Cancer Risk: Perceptions, Experiences, and Needs Among Early Adopters in Community Healthcare Settings
Q37067040Next-generation sequencing in genetic hearing loss
Q33721297Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing
Q89933702No Evidence for the Pathogenicity of the BRCA2 c.6937 + 594T>G Deep Intronic Variant: A Case-Control Analysis
Q79771199No Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families
Q49967497No Seat at the Recommendations Table?
Q43956956No association between COMT Val158Met polymorphism and prostate cancer risk: a meta-analysis
Q39981976No association between bone mineral density and transforming growth factor beta gene T(861-20)-C polymorphism in Turkish postmenopausal women.
Q36225226No association of catechol-O-methyltransferase polymorphisms with schizophrenia in the Han Chinese population
Q38359866No association of the rs9722 C >T in the S100B gene and susceptibility to major depression in a Chinese population
Q57266769Non-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
Q46191704Nonenriched PCR Versus Mutant-Enriched PCR in Detecting Selected Epidermal Growth Factor Receptor Gene Mutations Among Nonsmall-Cell Lung Cancer Patients.
Q52934423Noninvasive Diagnosis of Fetal Gender: Utility of Combining DYS14 and SRY.
Q36225300Noninvasive prenatal diagnosis of Down syndrome in samples from Southwest Chinese gravidas using pregnant plasma placental RNA allelic ratio
Q53368101Not just trials and tribulations-we need results!
Q84769557Not your grandfather's genetic testing oversight
Q86643800Nothing about us without us: guidelines for genetic testing
Q84925244Notice of retraction: Analysis of azoospermia factor loci polymorphisms among Tunisian infertile men with varicocele
Q51753513Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin.
Q46180443Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients
Q43199271Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent
Q50088604Novel Genetic Markers for Common Degenerative Orthopedic Diseases
Q47409201Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome.
Q50225305Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.
Q93210491Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree
Q34815404Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus
Q74210364Novel method for molecular detection of the two common hereditary hemochromatosis mutations
Q50429587Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment.
Q48379146Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion
Q45327319Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses
Q45178798Novel mutations of NODAL gene in Chinese patients with congenital heart disease
Q50434507Novel splice mutation in microthalmia-associated transcription factor in Waardenburg Syndrome.
Q42599922Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.
Q46306053Nucleic acid from saliva and salivary cells for noninvasive genotyping of Crohn's disease patients
Q38232702Nucleotide excision repair gene ERCC1 19007T>C polymorphism contributes to lung cancer susceptibility: a meta-analysis
Q47998930Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.
Q39119504Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability.
Q50727922OLR1 and Loxin Expression in PBMCs of Women with a History of Unexplained Recurrent Miscarriage: A Pilot Study.
Q35180917Obama's Precision Medicine Initiative
Q50955279Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.
Q80757044On the testing load incurred by cascade genetic carrier screening for Mendelian disorders: a brief report
Q81468038One multiplex control for 29 cystic fibrosis mutations
Q54509460One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.
Q54399551Optimization of high-resolution melting analysis for simultaneous genotyping of two 11β-hydroxysteroid dehydrogenase type 1 gene polymorphisms.
Q51939309Optimized pH method for DNA elution from buccal cells collected in Whatman FTA cards.
Q36720721Overexpression and secretion of the soluble CTLA-4 splice variant in various autoimmune diseases and in cases with overlapping autoimmunity
Q100672460Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses
Q38759620Overexpression of SORCIN is a Prognostic Biomarker for Multidrug-Resistant Pediatric Acute Lymphoblastic Leukemia and Correlates with Upregulated MDR1/P-gp
Q39741826Overexpression of human CAP10-like protein 46 KD in T-acute lymphoblastic leukemia and acute myelogenous leukemia
Q56897181Oversecretion of soluble CTLA-4 in various autoimmune diseases overlapping celiac disease
Q38031609Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect
Q34722573Ownership of uncertainty: healthcare professionals counseling and treating women from hereditary breast and ovarian cancer families who receive an inconclusive BRCA1/2 genetic test result
Q42962766Oxidative stress, Helicobacter pylori, and OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphisms in a Turkish population with colorectal carcinoma
Q88891863PARP-1 Overexpression as an Independent Prognostic Factor in Adult Non-M3 Acute Myeloid Leukemia
Q85319328PARP-1 rs3219073 polymorphism may contribute to susceptibility to lung cancer
Q45305674PCR approach for detection of Fragile X syndrome and Huntington disease based on modified DNA: limits and utility
Q78178587PCR assay for screening patients at risk for 22q11.2 deletion
Q45042092PCR-RFLP genotyping assay for a lactase persistence polymorphism upstream of the lactase-phlorizin hydrolase gene
Q73834625PCR-RFLP genotyping assay for the Bcl I polymorphism of the beta-fibrinogen gene
Q38459784PCR-based methylation testing for Prader-Willi or Angelman syndromes using archived fixed-cell suspensions
Q50458353PCR-based restriction fragment length polymorphism and haplotype of the most common mutation L176F in the beta-glucuronidase gene.
Q54460580PCR-quality DNA isolation from human bronchial aspirates and buccal and eyelid swabs by a simple procedure based on alkaline lysis.
Q51068994PI3K Overexpression and PIK3CA Mutations Are Associated with Age, Tumor Staging, and Other Clinical Characteristics in Chinese Patients with Esophageal Squamous Cell Carcinoma.
Q54410439PORCN Mutations and Variants Identified in Patients with Focal Dermal Hypoplasia Through Diagnostic Gene Sequencing
Q88306596PROGINS Polymorphism of the Progesterone Receptor Gene and the Susceptibility to Uterine Leiomyomas: A Systematic Review and Meta-Analysis
Q57235008PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype
Q43005311PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.
Q34364668Papillary renal cell carcinoma: analysis of germline mutations in the MET proto-oncogene in a clinic-based population
Q91791422Paraoxonase-1 Polymorphisms (L55M/Q192R) and Activities (PONase/AREase) in Patients with Idiopathic Recurrent Early Pregnancy Loss: A Preliminary Study
Q81468070Parental mosaicism for trisomy 21: problems with its detection and an approach to determining its population rate
Q35966984Parenting through genetic uncertainty: themes in the disclosure of breast cancer risk information to children
Q39022380Partial microdeletions in the Y-chromosome AZFc region are not a significant risk factor for spermatogenic impairment in Tunisian infertile men.
Q35376763Participating in next generation sequencing
Q36092738Pathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma
Q58461848Patient vs. Physician as the Target of Educational Outreach about Screening for an Inherited Susceptibility to Colorectal Cancer
Q57640579Patients' Attitudes Towards the Return of Incidental Findings After Research with Residual Tissue: A Mixed Methods Study
Q80521264Patterns of chromosomal translocations identified by a birth defects registry, Hawaii, 1986-2000
Q47582153Pediatric Issues in Return of Results and Incidental Findings: Weighing Autonomy and Best Interests
Q40056345Penetrance and the Healthy Elderly
Q36553961Perception, experience, and response to genetic discrimination in Huntington's disease: the Australian results of The International RESPOND-HD study
Q36041690Perceptions about genetic testing for the susceptibility to alcohol dependence and other multifactorial diseases
Q74613705Perceptions of genetics research as harmful to society: differences among samples of African-Americans and European-Americans
Q50119994Perceptions of population cystic fibrosis prenatal and preconception carrier screening among individuals with cystic fibrosis and their family members
Q84201553Permission to share biospecimens
Q50751333Personal DNA testing in college classrooms: perspectives of students and professors.
Q34211470Personal factors associated with reported benefits of Huntington disease family history or genetic testing
Q53230115Personal identity, advance directives, and genetic testing for Alzheimer disease.
Q52325190Personalized Dosing of Dichloroacetate Using GSTZ1 Clinical Genotyping Assay.
Q34976139Pesticide-induced gene mutations and Parkinson disease risk: a meta-analysis
Q46034401Pharmacogenetic screening of N-acetyltransferase 2, thiopurine s-methyltransferase, and 5,10-methylene-tetrahydrofolate reductase polymorphisms in Northwestern Mexicans.
Q43205615Pharmacogenetic testing in the United Kingdom genetics and immunogenetics laboratories
Q62607035Pharmacogenetics of Clopidogrel: Comparison Between a Standard and a Rapid Genetic Testing
Q43620426Pharmacogenetics of coumarin dosing: prevalence of CYP2C9 and VKORC1 polymorphisms in the Lebanese population
Q44999132Phenotype-genotype correlation in 295 Chinese deaf subjects with biallelic causative mutations in the GJB2 gene
Q39571511Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length
Q53274333Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.
Q43868192Physicians' preparedness for integration of genomic and pharmacogenetic testing into practice within a major healthcare system
Q74210377Pitfalls in the genetic diagnosis of hereditary hemochromatosis
Q54382639Plasminogen activator inhibitor type-1 gene 4G/5G polymorphism and polycystic ovary syndrome.
Q54473311Plasminogen activator inhibitor type-1 gene 4G/5G polymorphism in Turkish adult patients with asthma.
Q54432401Plasminogen activator inhibitor type-1 gene 4G/5G polymorphism is associated with hypertensive patients in the Turkish population.
Q33998576Plasminogen activator inhibitor-1 and susceptibility to lung cancer: a population genetics perspective.
Q47355672Plasminogen activator inhibitor-1 polymorphism in women with pre-eclampsia
Q85830058Platelet activation through the efficacy of aspirin in congenital heart disease patients undergoing transcatheter closure of atrial septal defects or ventricular septal defects
Q33705899Platelet glycoprotein IIIa gene polymorphism (Leu33Pro) and aspirin resistance in a very elderly Chinese population
Q100546117Please Wait for the Host to Start This Meeting: A Push for H.R. 3235 Amid COVID-19
Q77480336Points to consider in designing a clinical trial to ascertain the utility of a genetic screening test
Q39736099Polymerase Chain Reaction-Electrospray-Time-of-Flight Mass Spectrometry Versus Culture for Bacterial Detection in Septic Arthritis and Osteoarthritis.
Q82091520Polymerase chain reaction-based analysis using deaminated DNA of dodecamer expansions in CSTB, associated with Unverricht-Lundborg myoclonus epilepsy
Q35376400Polymorphic regions in the interleukin-1 gene and susceptibility to chronic periodontitis: a genetic association study
Q54348795Polymorphism analysis of MTHFR, factor II, and factor V genes in the Pomeranian population of Espirito Santo, Brazil.
Q45230564Polymorphism of ERCC2 Asp312Asn with lung cancer risk: evidence from 20,101 subjects
Q54387283Polymorphism of xenobiotic-metabolizing genes and breast cancer susceptibility in North Indian women.
Q49489525Polymorphism rs10483727 in the SIX1/SIX6 Gene Locus Is a Risk Factor for Primary Open Angle Glaucoma in a Saudi Cohort
Q50097443Polymorphism rs11656696 in GAS7 Is Not Associated with Primary Open Angle Glaucoma in a Saudi Cohort
Q84566994Polymorphisms -1082 G/A and -819 C/T in the interleukin-10 gene are not associated with gout susceptibility in the Chinese Han male population
Q58855511Polymorphisms Involved in Folate Metabolism Pathways and the Risk of the Development of Childhood Acute Leukemia
Q43501985Polymorphisms in serotonergic pathways influence the outcome of antidepressant therapy in psychiatric inpatients
Q34284010Polymorphisms 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
Q37142929Polymorphisms in the ERCC1 and XPF genes and risk of breast cancer in a Chinese population
Q50943869Polymorphisms in the Glucocorticoid Receptor Gene and Associations with Glucocorticoid-Induced Avascular Osteonecrosis of the Femoral Head.
Q40300074Polymorphisms in the IL-17 Gene (rs2275913 and rs763780) Are Associated with Hepatitis B Virus Infection in the Han Chinese Population
Q38918136Polymorphisms in the IL2RA and IL2RB genes in inflammatory bowel disease risk.
Q98180884Polymorphisms in the Tumor Necrosis Factor Genes Are Associated with Breast Cancer in the Moroccan Population
Q57785569Polymorphisms in the Uncoupling Protein 2 Gene Are Associated with Diabetic Retinopathy in Han Chinese Patients with Type 2 Diabetes
Q54337830Polymorphisms in the methylene tetrahydrofolate reductase gene and their unique combinations are associated with an increased susceptibility to the renal cancers.
Q45559638Polymorphisms of Glutathione-S-Transferase Genes and the Risk of Aerodigestive Tract Cancers in the Northeast Indian Population
Q54363925Population mutation scanning of human GHR by meltMADGE and identification of a paucimorphic variant.
Q74210349Population screening for hemochromatosis by PCR using sequence-specific primers
Q43259053Population severance in manipur at dopamine receptor D2 locus
Q36374582Population structure of Aggarwals of north India as revealed by molecular markers
Q86492024Population-based testing: let's have population-based discussion
Q98154862Positive Association of the JAG1 rs1327235 Genotype with Coronary Artery Disease in Men, the Tampere Adult Population Cardiovascular Risk Study
Q37519396Positive association between rs10918859 of the NOS1AP gene and coronary heart disease in male Han Chinese
Q104739663Possible Association of PER2/PER3 Variable Number Tandem Repeat Polymorphism Variants with Susceptibility and Clinical Characteristics in Pancreatic Cancer
Q87514108Possible association of FAS and FASLG polymorphisms with the risk of idiopathic azoospermia in southeast Turkey
Q38889448Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population
Q43265112Possible association of combined vitamin D receptor and estrogen receptor genotypes and low bone mineral density in Jordanian postmenopausal women
Q36408114Possible association of the GSK3β gene with the anxiety symptoms of major depressive disorder and P300 waveform
Q74210412Postscript: a status report on hemochromatosis population screening
Q51871144Potential consumers' attitudes toward psychiatric genetic research and testing and factors influencing their intentions to test.
Q34112125Potential nonresponse bias in a clinical examination after initial screening using iron phenotyping and HFE genotyping in the hemochromatosis and iron overload screening study
Q45126034Practice variations in biochemical screening for Down syndrome
Q73535688Prader-Willi syndrome: genetic tests and clinical findings
Q74741436Pre-counseling education materials for BRCA testing: does tailoring make a difference?
Q83450905Precision medicine: generating real-world evidence for companion diagnostics
Q78684519Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction
Q81826219Preconception cystic fibrosis carrier screening: costs and consequences
Q48525943Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population
Q81347883Preconceptional cystic fibrosis carrier screening: opinions of general practitioners, gynecologists, and pediatricians in the Netherlands
Q80757018Predicting the performance of a genetic testing service for cancer susceptibility
Q36889793Prediction value of miR-483 and miR-214 in prognosis and multidrug resistance of esophageal squamous cell carcinoma
Q81693427Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test
Q43950693Predictors of belief that genetic test information about hemochromatosis should be shared with family members
Q81158893Predominant Ashkenazi BRCA1/2 mutations in families with pancreatic cancer
Q34309885Pregnancy as foreground in cystic fibrosis carrier testing decisions in primary care
Q90127882Preliminary Exploration of hsa_circ_0032131 Levels in Peripheral Blood as a Potential Diagnostic Biomarker of Osteoarthritis
Q54458530Preliminary results in a study regarding the relationship between perlecan gene polymorphism and spinal muscular atrophy type I disease.
Q38464323Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion.
Q54539980Prenatal diagnosis and genetic counseling of a Chinese Alport syndrome kindred.
Q49074717Prenatal 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
Q84478699Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets
Q78178661Prenatal diagnosis in congenital contractural arachnodactyly
Q41938069Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene
Q73015972Prenatal diagnosis of spinal muscular atrophy by direct molecular analysis: efficacy and potential pitfalls
Q47378694Prenatal diagnosis of spinal muscular atrophy in Macedonian families
Q54767090Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques.
Q73535683Prenatal genotyping for the RhD blood group antigen: considerations in developing an accurate test
Q47566614Prenatal identification of a novel R937P L1CAM missense mutation
Q50433166Prenatal screening for the 35delG GJB2, del (GJB6-D13S1830), and del (GJB6-D13S1854) mutations in the Romanian population.
Q78178653Prenatal sexing and sex determination in infants with ambiguous genitalia by polymerase chain reaction
Q33721342Prepregnancy genetic testing for age-related aneuploidies by polar body analysis
Q45861798Prepregnancy testing for single-gene disorders by polar body analysis.
Q39208463Presymptomatic diagnosis in Huntington's disease: the Mexican experience
Q104514692Pretreatment 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
Q46618446Prevalence and molecular characterization of alpha-thalassemia syndromes among Indians
Q53801267Prevalence of CTLA-4 polymorphism A49G in Ashkenazi Jews.
Q47584118Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.
Q46972962Prevalence of UGT1A1 gene polymorphism in patients with hemolytic anemia in southern Brazil
Q47612857Prevalence of alleles associated with HIV resistance in Russia.
Q73834627Prevalence of cystic fibrosis mutations in Israeli Jews
Q44619353Prevalence of hemoglobinopathy disorders in adult patients sent for diagnosis of anemia in saudi arabia
Q51347500Prevalence of human papillomavirus infection in a Kashmiri ethnic female population.
Q45294623Prevalence of major depression one year after predictive testing for Huntington's disease
Q43167346Prevalence of mitochondrial tRNA gene mutations and their association with specific clinical phenotypes in patients with type 2 diabetes mellitus of Coimbatore.
Q34779797Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.
Q46203722Prevalence of prothrombotic polymorphisms in Greece
Q78178553Prevalence of recurring BRCA mutations among Ashkenazi Jewish women with breast cancer
Q50468343Prevalence of the 35delG mutation in the GJB2 gene of patients with nonsyndromic hearing loss from Croatia.
Q81347873Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain
Q39963644Prevalence of the C677T single-nucleotide polymorphism in the methylenetetrahydrofolate reductase gene among Pakistani ethnic groups
Q54531814Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas.
Q36174293Prevalence of the NKG2D Thr72Ala polymorphism in patients with cervical carcinoma.
Q47823625Prevalence of β-Thalassemia and hemoglobin E in two migrant populations of Manipur, North East India.
Q86685773Pri-miR-34b/c rs4938723 polymorphism is associated with a decreased risk of gastric cancer
Q54484596Primer site polymorphisms: potential implications for bone marrow engraftment monitoring.
Q97544967Privacy in the Coronavirus Era
Q73717889Professional and personal attitudes about access and confidentiality in the genetic testing of children: a pilot study
Q35693724Professional perspectives about pharmacogenetic testing and managing ancillary findings
Q92845369Prognostic Implications of Tripartite Motif Containing 24 Expression Levels in Patients with Solid Tumors: A Systematic Review and Meta-Analysis
Q100496080Prognostic Role of Circular RNAs Expression in Bladder Carcinoma: A Meta-Analysis
Q89916305Prognostic Role of Zinc Finger Homeobox 4 in Ovarian Serous Cystadenocarcinoma
Q39881848Prognostic Significance of Dickkopf-1 in Gastric Cancer Survival: A Meta-Analysis
Q91143824Prognostic 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
Q47265532Prognostic and Clinicopathological Significance of BAP1 Protein Expression in Different Types of Cancer-A Meta-Analysis
Q33705658Prognostic importance of single-nucleotide polymorphisms in IL-6, IL-10, TGF-β1, IFN-γ, and TNF-α genes in chronic phase chronic myeloid leukemia
Q87187697Prognostic value of apolipoprotein E epsilon4 allele in patients with traumatic brain injury: a meta-analysis and meta-regression
Q91826877Progress of Exosomes in the Diagnosis and Treatment of Pancreatic Cancer
Q74784478Progress of a Comprehensive Familial Cancer Genetic Counseling Program in the Era of BRCA1 and BRCA2
Q41642334Progressing Preemptive Genotyping of CYP2C19 Allelic Variants for Sickle Cell Disease Patients.
Q36979414Prolactin receptor gene polymorphisms are associated with gestational diabetes
Q92509160Promoter Polymorphism (-308G/A) of Tumor Necrosis Factor-Alpha (TNF-α) Gene and Asthma Risk: An Updated Meta-Analysis
Q51626720Proposed algorithm for the best detection of different bcr-abl gene fusion transcripts in molecular diagnostics laboratories: experience of a major referral center.
Q36041671Prostate cancer in elderly Croatian men: 5-HT genetic polymorphisms and the influence of androgen deprivation therapy on osteopenia--a pilot study
Q50573564Providing appropriate genetic information to healthy carriers of hemoglobinopathy can be a welcome and safe initiative: the Latium example.
Q39749886Providing genetic risk information to parents of newborns with sickle cell trait: role of the general practitioner in neonatal screening
Q56784519Psychiatrists' attitudes regarding genetic testing and patient safeguards: a preliminary study
Q46965042Psychological aspects of genetic counseling. XIV. Nondirectiveness and counseling skills
Q48938210Psychological impact of genetic counseling for hereditary nonpolyposis colorectal cancer: the role of cancer history, gender, age, and psychological distress.
Q81432197Psychological impact of genetic testing for breast cancer susceptibility in women of Ashkenazi Jewish background: a prospective study
Q36408106Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation
Q37421773Psychosocial aspects of DNA testing for hereditary hemochromatosis in at-risk individuals: a systematic review
Q51939307Psychosocial correlates of pregnant women's attitudes toward prenatal maternal serum screening and invasive diagnostic testing: beyond traditional risk status.
Q51062997Psychosocial impact of C282Y mutation testing for hemochromatosis.
Q51905353Psychosocial impact of genetic testing for hemochromatosis in the HEIRS Study: a comparison of participants recruited in Canada and in the United States.
Q42650006Public Views on Genetics and Genetic Testing: A Survey of the General Public in Belgium
Q79771230Public attitudes toward genetic testing: perceived benefits and objections
Q36720757Public knowledge of and attitudes toward genetics and genetic testing
Q35836799Public perspectives about pharmacogenetic testing and managing ancillary findings
Q33721271Public understanding of genetics and Alzheimer disease
Q54250484Qualitative and quantitative evaluation of the BCR-ABL fusion gene in chronic myelogenous leukemia by flourescence in situ hybridization and molecular genetic methods.
Q37912170Quality assessment of genetic counseling process in the context of presymptomatic testing for late-onset disorders: a thematic analysis of three review articles
Q53339463Quality control and monitoring for the isolation process of mesenchymal stem cells and their differentiation into osteoblasts.
Q38078010Quantitative assessment of the association between the GSTM1-null genotype and the risk of childhood asthma
Q54439681Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region.
Q82916558Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications
Q54578148Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients.
Q46901472Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization
Q74784473Questions raised by BRCA1/2-carrier screening programs
Q35036553RFC-1 80G>A polymorphism in case-mother/control-mother dyads is associated with risk of nephroblastoma and neuroblastoma
Q47998994RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease
Q46322635Racial and ethnic variations in knowledge and attitudes about genetic testing
Q92388364Raising the Bar at GTMB
Q57278948Rapid Detection of Common Southeast Asian ß-Thalassemia Mutations by Nonisotopic Multiplex PCR-SSCP Analysis
Q57278947Rapid Detection of Common Southeast Asian β -Thalassemia Mutations by Nonisotopic Multiplex PCR-SSCP Analysis
Q59189350Rapid Detection of the Hypertension-Associated A1166C Polymorphism of the Angiotensin II Type 1 Receptor (AGTR1)
Q87137910Rapid Detection of the Three Celiac Disease Risk Genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 by Multiplex Ligation-Dependent Probe Amplification
Q73338762Rapid F508del and F508C assay using fluorescent hybridization probes
Q54404323Rapid Identification of Common β-Thalassemia Mutations in the Chinese Population Using Duplex or Triplex Amplicon Genotyping by High-Resolution Melting Analysis
Q54394302Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene.
Q79662920Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy
Q54794304Rapid and robust screening of the Menkes disease/occipital horn syndrome gene.
Q44254571Rapid automated simultaneous screening of (G1691A) Factor V, (G20210A) prothrombin, and (C677T) methylenetetrahydrofolate reductase variants by multiplex PCR using fluorescence scanning technology.
Q80521260Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes
Q73742300Rapid confirmation of previously detected prenatal mosaicism by fluorescence in situ hybridization in interphase uncultured amniocytes
Q54323915Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
Q47998906Rapid 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
Q80603308Rapid detection of sex chromosomal aneuploidies by QF-PCR: application in 200 men with severe oligozoospermia or azoospermia
Q48001009Rapid 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
Q34109123Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay
Q45229199Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.
Q44511844Rapid molecular diagnosis of genetic diseases by high resolution melting analysis: fabry and glycogen storage 1A diseases
Q46203726Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay
Q73356689Rapid 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
Q54232497Rapid prenatal diagnosis of common numerical chromosomal abnormalities by high-resolution melting analysis of segmental duplications.
Q47355694Rapid prenatal testing for human beta-glucuronidase deficiency (MPS VII).
Q90120788Re: "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)
Q46631081Re: 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).
Q87430545Receipt of genetic counseling recommendations among black women at high risk for BRCA mutations
Q84076777Recommendations of the European society of human genetics on genetic testing for common disorders
Q38438418Recovery of genomic DNA from residual frozen archival blood clots suitable for amplification and use in genotyping assays
Q46313583Recruitment of black women for a study of inherited breast cancer using a cancer registry-based approach
Q82091502Recruitment, genetic counseling, and BRCA testing for underserved women at a public hospital
Q50437309Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.
Q82309731Recurrent pregnancy loss and its relation to combined parental thrombophilic gene mutations
Q43489206Referral and experience with genetic testing among women with early onset breast cancer
Q56908407Reflections on the European Conference "Molecular Screening of Individuals at High Risk for Developing Cancer: Medical, Ethical, Legal, and Social Issues"
Q38166799Reforming biobank consent policy: a necessary move away from broad consent toward dynamic consent
Q33697325Registry of genetic tests: a critical stepping stone to improving the genetic testing system
Q83323835Regulating genetic tests: issues that guide policy decisions
Q47962222Relationship Between C-Reactive Protein Serum Concentration and the 1846 C>T (rs1205) Polymorphism in Patients with Acute Coronary Syndrome from Western Mexico
Q91821064Relationship Between Genetic Polymorphisms of the TNF Gene and Hallux Valgus Susceptibility
Q90091266Relationship Between Heat Shock Protein Expression and Obesity With and Without Metabolic Syndrome
Q46610567Relationship Between RANK and RANKL Gene Polymorphisms with Osteoporosis in Rheumatoid Arthritis Patients
Q53125605Relationship between genomic damage and clinical features in dialysis patients.
Q36092742Relationship between leptin G2548A and leptin receptor Q223R gene polymorphisms and obesity and metabolic syndrome risk in Tunisian volunteers
Q40229718Relationship between response to colchicine treatment and MDR1 polymorphism in familial Mediterranean fever patients
Q39881357Relationship between the angiotensin I-converting enzyme insertion/deletion (I/D) polymorphism and cardiovascular risk factors in healthy young Mexican women.
Q61813287Relationship of Genetic Variation in the Serotonin Transporter Gene (SLC6A4) and Congenital and Acquired Cardiovascular Diseases
Q87417417Relationship of PTTG expression with tumor invasiveness and microvessel density of pituitary adenomas: a meta-analysis
Q44046504Relationship of SREBP-2 rs2228314 G>C polymorphism with nonalcoholic fatty liver disease in a Han Chinese population
Q93236045Relationship of WNT4 Gene with the Risk of Epithelial Ovarian Cancer: A Han Chinese Population-Based Association Study
Q45005763Reliable and high-throughput mutation screening for beta-thalassemia by a single-base extension/fluorescence polarization assay
Q54394307Repeat-primed polymerase chain reaction in myotonic dystrophy type 2 testing.
Q52685162Replication Study Confirms the Association of the Common rs1800629 Variant of the TNFα Gene with Postmenopausal Osteoporosis Susceptibility in the Han Chinese Population.
Q57797069Report of Confirmation of the rs7853758 and rs885004 Haplotype in SLC28A3
Q50069495Research for the People by the People
Q34405755Researcher Practices on Returning Genetic Research Results
Q36041697Researcher and institutional review board chair perspectives on incidental findings in genomic research
Q90120784Response 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)
Q33162716Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory
Q50496046Reticulocyte hemoglobin content and iron deficiency: a retrospective study in adults.
Q87340583Retraction of Chen et al. (2012) 16:952-956; DOI: 10.1089/gmtb.2012.0033
Q39001950Return of Research Results in the Saudi Biobank: An Exploratory Survey.
Q39113616Returning Results in Biobank Research: Global Trends and Solutions.
Q42968231Returning Results: Let's Be Honest!
Q90998686Reuniting Families Using Genetic Testing?
Q40534023Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever
Q40056777Rising Concern Regarding Pregnant Women and Zika Virus
Q40620952Risk Factors for Hepatocellular Carcinoma in Cirrhotic Patients with Chronic Hepatitis B.
Q36108970Risk assessment for inherited susceptibility to cancer: a review of the psychosocial and ethical dimensions
Q97565506Risk of Nasopharyngeal Carcinoma Associated with Single Nucleotide Polymorphisms in the MicroRNA Binding Site of SGK3
Q46476680Risk of myocardial infarction related to factor V Leiden mutation: a meta-analysis
Q31107500Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients
Q36879101Risk reduction and health promotion behaviors following genetic testing for adult-onset disorders
Q84925235Risky business: the need for hypothesis-generating research
Q78684508Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations
Q57732455Robust, Easy, and Dose-Sensitive Methylation Test for the Diagnosis of Prader–Willi and Angelman Syndromes
Q51364972Role of -675 4G/5G in the plasminogen activator inhibitor-1 gene and -308G/A tumor necrosis factor-α gene polymorphisms in obese Argentinean patients.
Q47672925Role of Cytokine Gene Score in Risk Prediction of Premature Coronary Artery Disease
Q44237681Role of HLA class II loci polymorphism in the manifestation of type 1 diabetes in a Bengali Indian patient population
Q54184572Role of IFN-γ and IL-6 cytokines and their association in determining susceptibility to chronic idiopathic urticaria.
Q35132718Role of MDM2 T309G polymorphism in susceptibility and prognosis of nonsmall cell lung cancer: a meta-analysis
Q54329733Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on anti-epileptic drug (phenytoin) absorption.
Q39916710Role of PALB2 Polymorphisms with Regard to Susceptibility to Female Breast Cancer Risk in the Chinese Population
Q35130495Role of RASSF1A promoter methylation in the pathogenesis of ovarian cancer: a meta-analysis
Q40658114Role of SEP15 Gene Polymorphisms in the Time of Progression to AIDS.
Q51697492Role of UMOD Promoter Polymorphism in the Etiology of Preeclampsia.
Q92816471Role of VDR, GC, and CYP2R1 Polymorphisms in the Development of Hepatocellular Carcinoma in Hepatitis C Virus-Infected Patients
Q92864091Role of Vitamin D Receptor Gene Polymorphisms on the Susceptibility to Periodontitis: A Meta-Analysis of a Controversial Issue
Q39985354Role of glutathione-S-transferase P1 hypermethylation in molecular detection of prostate cancer
Q50893251Role of the Polymorphisms of Uncoupling Protein Genes in Childhood Obesity and Their Association with Obesity-Related Disturbances.
Q50436939Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.
Q51654633Roles of Cell Cyle Regulators Cyclin D1, CDK4, and p53 in Knee Osteoarthritis.
Q39966489Roles of XRCC1/XPD/ERCC1 Polymorphisms in Predicting Prognosis of Hepatocellular Carcinoma in Patients Receiving Transcatheter Arterial Chemoembolization
Q37686218Roles of three common VEGF polymorphisms in the risk of age-related macular degeneration
Q45837764S100A4 is an independent prognostic factor for patients with lung cancer: a meta-analysis
Q54155781SNCA rs3822086 C>T Polymorphism Increases the Susceptibility to Parkinson's Disease in a Chinese Han Population.
Q51525721SNP rs1805874 of the Calbindin1 Gene Is Associated with Parkinson's Disease in Han Chinese.
Q34296576SNaPshot Assay in Quantitative Detection of Allelic Nondisjunction in Down Syndrome
Q47998897STAT4 is not associated with type 2 diabetes in the genetically homogeneous population of Crete
Q50100102STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population
Q35222875SUMO1 genetic polymorphisms may contribute to the risk of nonsyndromic cleft lip with or without palate: a meta-analysis.
Q100380495Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel
Q33721350Screening Jews and genes: a consideration of the ethics of genetic screening within the Jewish community: challenges and responses
Q47999006Screening NKX2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases
Q96770297Screening and Identification of Key Biomarkers in Inflammatory Breast Cancer Through Integrated Bioinformatic Analyses
Q37277686Screening biomarkers of prostate cancer by integrating microRNA and mRNA microarrays
Q35180500Screening for AZFc partial deletions in Dravidian men with nonobstructive azoospermia and oligozoospermia
Q34703857Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.
Q54560287Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography.
Q79327680Screening for DMD/BMD deletion carriers by fluorescence in situ hybridization
Q90015881Screening for Differentially Expressed Circular RNAs in the Cartilage of Osteoarthritis Patients for Their Diagnostic Value
Q45289107Screening for FXTAS in 95 Spanish patients negative for Huntington disease
Q59416411Screening for Familial Mediterranean Fever M694V and V726A Mutations in the Greek Population
Q36026620Screening for an inherited susceptibility to colorectal cancer
Q73717898Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews
Q79671619Screening for hemochromatosis and iron overload: satisfaction with results notification and understanding of mailed results in unaffected participants of the HEIRS study
Q74210343Screening for hemochromatosis in routine medical care: an evaluation of mean corpuscular volume and mean corpuscular hemoglobin
Q51996103Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.
Q50442946Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplification.
Q81347879Screening of 12 SNPs of CYP3A4 in a Chinese population using oligonucleotide microarray
Q50435710Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
Q50544756Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.
Q93264773Screening of AIP Gene Variations in a Cohort of Turkish Patients with Young-Onset Sporadic Hormone-Secreting Pituitary Adenomas
Q58923925Screening of EDA1 Gene in X-Linked Anhidrotic Ectodermal Dysplasia Using DHPLC: Identification of 14 Novel Mutations in Italian Patients
Q50352550Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment.
Q53631899Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers.
Q51597421Screening of Variations in CD22 Gene in Children with B-Precursor Acute Lymphoblastic Leukemia.
Q42982157Screening of hepatitis C virus genotypes in urticaria patients in Saudi Arabia
Q38900776Screening 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
Q50445856Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes.
Q39791277Screening of three novel candidate genes in arrhythmogenic right ventricular cardiomyopathy
Q51290619Search for Genetic Variant in the Apelin Gene by Resequencing and Association Study in European Subjects.
Q51892021Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndrome.
Q50433419Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique.
Q90625763Semen Quality is Associated with Sperm Aneuploidy and DNA Fragmentation in the United Arab Emirates Population
Q46030527Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting.
Q73834621Sensitivity and specificity of denaturing high-pressure liquid chromatography for unknown protein C gene mutations
Q73742278Sensitivity of multiple color spectral karyotyping in detecting small interchromosomal rearrangements
Q98229128Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation
Q87310332Sequence Variants of SIRT6 Gene Promoter in Myocardial Infarction
Q43757766Sequence variation of the methylene tetrahydrofolate reductase gene (677C>T and 1298 A>C) and traditional risk factors in a South Indian population
Q54644160Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients.
Q85052331Serotonin receptor 2A -1438G/A promoter polymorphism in relation to obesity and response to sibutramine
Q38149241Serotonin transporter (5-HTT) gene polymorphisms and susceptibility to epilepsy: a meta-analysis and meta-regression
Q46615025Serotonin transporter gene polymorphisms and sertraline response in major depression patients
Q44786474Serotoninergic polymorphisms (5-HTTLPR and 5-HT2A): association studies with psychosis in Alzheimer disease.
Q92366475Serum Human Epididymis Protein 4 Combined with Carbohydrate Antigen 125 for Endometrial Carcinoma Diagnosis: A Meta-Analysis and Systematic Review
Q97676509Serum Level and Gene Expression of Interleukin-15 Do Not Correlate with Villous Atrophy in Celiac Disease Patients
Q51284763Serum Markers of Endothelial Dysfunction and Inflammation Increase in Hypertension with Prediabetes Mellitus.
Q38868124Serum Parathyroid Hormone Levels Predict Discharge and Readmission for Heart Failure
Q89291135Serum Salusin-β Levels Are Correlated with Slow Coronary Flow
Q87210219Serum and Vitreous Pentraxin 3 Concentrations in Patients with Diabetic Retinopathy
Q86529079Serum endocan levels are correlated with the presence and severity of coronary artery disease in patients with hypertension
Q53383286Serum macrophage migration inhibitory factor levels are associated with angiographically complex coronary lesions in patients with coronary artery disease.
Q43849774Serum mannose-binding lectin and C-reactive protein are potential biomarkers for patients with community-acquired pneumonia
Q92871862Serum miR-210-3p as a Potential Noninvasive Biomarker of Lung Adenocarcinoma: A Preliminary Study
Q90682611Serum miR-638 Combined with Squamous Cell Carcinoma-Related Antigen as Potential Screening Biomarkers for Cervical Squamous Cell Carcinoma
Q46115003Serum neural cell adhesion molecule is hyposialylated in hereditary inclusion body myopathy
Q85257508Serum parathyroid hormone as a potential novel biomarker of coronary heart disease
Q35608593Serum sLOX-1 Levels Are Correlated with the Presence and Severity of Obstructive Sleep Apnea
Q89291851Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes
Q42635022Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level
Q57003014Sex chromosome analysis in Turner Syndrome by a pentaplex PCR assay
Q42680796Sharing clinical research data: perspectives on an IOM workshop
Q30790940Sharing your thoughts about sharing clinical trial data
Q48378777Should individuals be informed about their salt sensitivity status? First indications of the value of testing for genetic predisposition to low-risk conditions
Q28190279Sialic acid storage disease and related disorders
Q37610146Significance of genome-wide association studies in molecular anthropology
Q87373190Significant association between MTHFR C677T polymorphism and thyroid cancer risk: evidence from a meta-analysis
Q87070065Significant associations between the A163G and G1181C polymorphisms of the osteoprotegerin gene and risk of osteoporosis, especially in postmenopausal women: a meta-analysis
Q47437108Significant genetic differentiation within the population of the Island of Corsica (France) revealed by y-chromosome analysis
Q84563826Silence is not always golden
Q54432488Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.
Q54168383Simple Method to Genotype the ACTN3 r577x Polymorphism.
Q51953506Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes.
Q45301629Simple procedure for automatic detection of unstable alleles in the myotonic dystrophy and Huntington's disease loci
Q78178532Simultaneous detection of five mutations in the steroid 21-hydroxylase gene using nested allele-specific amplification
Q39835401Simultaneous detection of multiple single-nucleotide polymorphisms by a simple membrane chip.
Q49935275Single Nucleotide Polymorphisms in Key One-Carbon Metabolism Genes and Their Association with Blood Folate and Homocysteine Levels in a Chinese Population in Yunnan
Q44038757Single Nucleotide Polymorphisms in the PTPN1 Gene Are Associated with Susceptibility to Esophageal Squamous Cell Carcinoma: A Case-Control Study in Inner Mongolia, China
Q40526408Single-Nucleotide Polymorphism rs17611 of Complement Component 5 Shows Association with Ischemic Stroke in Northeast Chinese Population
Q54401144Single-Nucleotide Polymorphisms ofNKX2.5Found in Congenital Heart Disease Patients of Mysore, South India
Q36225257Single-nucleotide polymorphism at CYP27B1-1260, but not VDR Taq I, is possibly associated with persistent hepatitis B virus infection
Q42693073Single-nucleotide polymorphisms and haplotype analysis in beta-defensin genes in different ethnic populations
Q84658843Single-nucleotide polymorphisms in genes encoding toll-like receptor -2, -3, -4, and -9 in case-control study with breast cancer
Q48268947Site-directed mutagenesis of exon 5 of p53: purification, analysis, and validation of amplicons for DHPLC.
Q46673434Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease
Q92509165Skin Autofluorescence Is Associated with Diabetic Peripheral Neuropathy in Chinese Patients with Type 2 Diabetes: A Cross-Sectional Study
Q46974315Slovenian five-year experiences with rapid prenatal diagnosis of common chromosome aneuploidies using quantitative-fluorescence polymerase chain reaction
Q47717848Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene
Q92071878So What Does That Test Result Mean? Genetic Counselors in the Trenches
Q43808548Social stratification in the Sikh population of Punjab (India) has a genetic basis: evidence from serological and biochemical markers
Q53230122Special issues in genetic testing for Alzheimer disease.
Q44025037Species identification through DNA "barcodes".
Q117709717Species-Level Profiling of Ixodes pacificus Bacterial Microbiomes Reveals High Variability Across Short Spatial Scales at Different Taxonomic Resolutions
Q46534568Specific triplex binding capacity of mixed base sequence duplex nucleic acids used for single-nucleotide polymorphism detection
Q33783827Spectrum of CFTR gene mutations in Iranian Azeri Turkish patients with cystic fibrosis.
Q46132345Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia
Q74613701Spectrum of MECP2 mutations in Rett syndrome
Q39097541Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients
Q40443503Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis
Q77480350Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations
Q39195842Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns
Q43542914Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper
Q34976105Spondylocostal dysostosis associated with methylmalonic aciduria
Q44487291Standardization of methods reduces variability: explanation for historical discrepancies in biochemical screening
Q39660358Standardized Centile Curves and Reference Intervals of Serum Thymidine Kinase 1 Levels in a Normal Chinese Population Using the LMS Method
Q84042716Standards for personalized medicine
Q48297930Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.
Q45948882Stress, COMT Polymorphisms, and Depressive Symptoms in Older Australian Women: An Exploratory Study.
Q40603446Study of the mutation M694V of familial Mediterranean fever in Jews
Q38488510Study on key genes and regulatory networks associated with osteoporosis by microarray technology
Q50636926Subclinical psychotic experiences in healthy young adults: associations with stress and genetic predisposition.
Q80521234Subjective and objective risk of breast cancer in Ashkenazi Jewish individuals at risk for BRCA1/2 mutations
Q87385240Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations
Q38655233Support for "Disease-Only" Genotypes and Excess of Homozygosity at the CYTH4 Primate-Specific GTTT-Repeat in Schizophrenia
Q45862398Support for the availability of prenatal testing for neurological and psychiatric conditions in the psychiatric community
Q33721250Surrogate decision making for genetic testing for Alzheimer disease
Q85514404Survivin gene polymorphism association with tongue squamous cell carcinoma
Q51102753Susceptiveness of Vitamin K epOxide Reductase Complex Subunit 1 Gene Polymorphism in Essential Hypertension.
Q50222505Synergistic Association of Genetic Variants with Environmental Risk Factors in Susceptibility to Essential Hypertension.
Q83387384Synergistic cytogenetic and antineoplastic effects by the combined action of esteric steroidal derivatives of nitrogen mustards
Q51932087Systematic analysis of sequence variability of the endothelin-1 gene: a prerequisite for association studies.
Q46740025T594M mutation of the beta-subunit of the epithelial sodium channel in Ghanaian populations from Kumasi and London and a possible association with hypertension
Q50770648TCF21 rs12190287 Polymorphisms Are Associated with Ventricular Septal Defects in a Chinese Population.
Q37398190TERT genetic polymorphism rs2736100 was associated with lung cancer: a meta-analysis based on 14,492 subjects
Q51678668TGFBI Gene Mutation Analysis in Chinese Families with Corneal Dystrophies.
Q57163912TGFα/HinfI Polymorphisms Contribute to Nonsyndromic Cleft Lip and Palate in Turkish Patients
Q38132845TLR-2 gene polymorphisms and susceptibility to cancer: evidence from meta-analysis
Q50577729TPOX Triallelic Genotype: An Interesting Pattern to Be Noted in Bone Marrow Transplantation Monitoring.
Q92119543TSC1 and TSC2 Gene Mutations in Chinese Tuberous Sclerosis Complex Patients Clinically Characterized by Epilepsy
Q100308260Tacrolimus Starting Dose Prediction Based on Genetic Polymorphisms and Clinical Factors in Chinese Renal Transplant Recipients
Q89342895Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa
Q50100095Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.
Q50044686Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa
Q39407688Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss
Q51892370Targeted extended cystic fibrosis mutation testing on known and at-risk patients and relatives.
Q37649360Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population
Q54157910Tay-Sachs disease carrier screening: a 21-year experience.
Q33721281Tay-Sachs disease carrier screening: a model for prevention of genetic disease
Q78178612Technical pitfalls encountered in PCR quantification using microsatellites
Q33914883Technical, genetic, and ethical issues in screening and testing of African-Americans for hemochromatosis
Q80974245Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: rationale and development of a randomized controlled trial
Q41185856Telomerase Reverse Transcriptase (TERT) Gene Variations and Susceptibility of Colorectal Cancer
Q58440082Telomere Shortening: A Biological Marker of Sporadic Colorectal Cancer with Normal Expression of p53 and Mismatch Repair Proteins
Q41655633Telomere length measurement on the Roche LightCycler 480 Platform
Q85929946Test now, share now
Q38217277Test performance of sputum microRNAs for lung cancer: a meta-analysis
Q80062514Testing and reporting ACMG cystic fibrosis mutation panel results
Q84194662Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome
Q79348541Testing participation in BRCA1/2-positive families: initiator role of index cases
Q39976633Testing 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.
Q90656961The -174G>C and -596G>A Polymorphisms Are Not Associated with Circulating IL-6 Levels in Breast Cancer Patients from Jalisco, México
Q78178583The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients
Q47278468The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece
Q78178743The 677C > T mutation in 5,10-methylenetetrahydrofolate reductase and colorectal cancer risk
Q104129543The SELS rs34713741 Polymorphism Is Associated with Susceptibility to Colorectal Cancer and Gastric Cancer: A Meta-Analysis
Q85937715The ADAM33 S2 polymorphism is associated with susceptibility to pediatric asthma in the Chinese Han population
Q34330986The 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
Q46534573The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village
Q91821026The Association Between AXIN2 Gene Polymorphisms and the Risk of Breast Cancer in Chinese Women
Q38371592The Association Between MGMT Promoter Methylation and Patients with Gastric Cancer: A Meta-Analysis
Q91629214The Association Between VDR and GC Polymorphisms and Lung Cancer Risk: A Systematic Review and Meta-Analysis
Q50198879The Association Between XPG Gene Polymorphism and Gastric Cancer Risk.
Q92366470The Association Between hMLH1 and hMSH2 Polymorphisms and Renal Tumors in Northeastern China
Q50137845The Association Between the FTO rs9939609 Variant and Malignant Pleural Mesothelioma Risk: A Case-Control Study
Q92274964The Association Between the Tumor Necrosis Factor-Alpha Gene -308A/G Polymorphism and Chronic Pancreatitis: A Meta-Analysis
Q51597328The Associations of IL-6, IFN-γ, TNF-α, IL-10, and TGF-β1 Functional Variants with Acute Myeloid Leukemia in Turkish Patients.
Q47909594The BRCA1 3'-UTR: 5711+421T/T_5711+1286T/T genotype is a possible breast and ovarian cancer risk factor
Q45246888The BsmI vitamin D receptor gene polymorphism is associated with ulcerative colitis in Jewish Ashkenazi patients
Q92450809The CAV1 Gene 3' Untranslated Region Single Nucleotide Polymorphisms Are Associated with the Risk of Pulmonary Hypertension in Chinese Han Chronic Obstructive Pulmonary Patients
Q47922397The CD14 rs2569190 TT Genotype is Associated with Chronic Periodontitis
Q47433933The CFTR M470V gene variant as a potential modifier of COPD severity: study of Serbian population
Q98229135The Circular RNA CDR1as Regulates the Proliferation and Apoptosis of Human Cardiomyocytes Through the miR-135a/HMOX1 and miR-135b/HMOX1 Axes
Q40713101The Contributions of Thrombophilic Mutations to Genetic Susceptibility to Deep Venous Thrombosis in Iraqi Patients
Q128955389The Correlation Between Clinical Phenotype and Genotype of Hereditary Spherocytosis
Q91420229The Counselor Will Videoconference You Now: Addressing Opportunities and Challenges with Patient-Clinician Communication in the Telemedicine Era
Q92658084The 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
Q81641480The DLC-1 -29A/T polymorphism is not associated with nasopharyngeal carcinoma risk in Chinese population
Q45934571The Day the President of the United States Said "That Data is Mine".
Q53202428The Detection of Genetic Parameters for Prognostic Stratification of Neuroblastoma Using Multiplex Ligation-Dependent Probe Amplification Technique.
Q92982995The Effect of AMBP SNPs, Their Haplotypes, and Gene-Environment Interactions on the Risk of Atherothrombotic Stroke Among the Chinese Population
Q92816456The Effect of Angiotensin-Converting Enzyme Gene Polymorphisms on the Clinical Efficacy of Perindopril Prescribed for Acute Myocardial Infarction in Chinese Han Patients
Q57995105The Effect of Direct-to-Consumer Genetic Tests on Anticipated Affect and Health-Seeking Behaviors: A Pilot Survey
Q39723420The Effect of the CYP1A1*2A Allele on Colorectal Cancer Susceptibility in a British Population.
Q114939675The 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
Q45016292The Equal Employment Opportunity Commission proposal and the Genetic Information Nondiscrimination Act.
Q91953397The Expression of MBD6 Is Associated with Tumor Size in Uterine Leiomyomas
Q90463409The First Molecular Screening of MLH1 and MSH2 Genes in Moroccan Colorectal Cancer Patients Shows a Relatively High Mutational Prevalence
Q36367700The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome
Q41199880The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population
Q94554430The Frequency of the Minor Polymorphisms in the CYP2C19, VEGFR-2 Genes, and Clinical Outcomes in Russian and Buryat Patients with Acute Coronary Syndrome
Q92450814The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population
Q88783755The Future Is Today
Q96581571The GCAG Haplotype of the CRHBP Gene May Decrease the Risk for Robbery Behavior Among the Han Chinese
Q59202059The 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
Q28087697The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations
Q57808064The Genetic Determination of the Differentiation Between Ischemic Dilated Cardiomyopathy and Idiopathic Dilated Cardiomyopathy
Q93925647The Genetic Knowledge Index: developing a standard measure of genetic knowledge
Q87772408The Genome Editing Report of the National Academy of Sciences and the National Academy of Medicine
Q38368759The Half-Life of Serum Thymidine Kinase 1 Concentration Is an Important Tool for Monitoring Surgical Response in Patients with Lung Cancer: A Meta-Analysis
Q39459951The I1307K APC polymorphism: prevalence in non-Ashkenazi Jews and evidence for a founder effect
Q91247555The Impact of Variants in Genes Associated with Estradiol Synthesis on Hormone Levels and Oocyte Retrieval in Patients Who Underwent Controlled Ovarian Hyperstimulation
Q92366457The Impact of Vitamin D Receptor Gene Polymorphisms on the Susceptibility of Diabetic Vascular Complications: A Meta-Analysis
Q57301925The Influence of Experiential Knowledge on Prenatal Screening and Testing Decisions
Q38987165The Influence of Polymorphisms of Interleukin-17A and -17F Genes on Susceptibility and Activity of Rheumatoid Arthritis
Q48571358The International Rare Diseases Research Consortium Announces New Vision and Goals
Q57286903The Italian External Quality Assessment Scheme for Fragile X Syndrome: The Results of a 5-Year Survey
Q39903007The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience
Q39992975The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey
Q38679881The KSR2-rs7973260 Polymorphism is Associated with Metabolic Phenotypes, but Not Psychological Phenotypes, in Chinese Elders
Q46494104The LRRK2 gene is mutated in a Chinese autosomal-dominant Parkinson's disease family
Q50492723The M34T allele variant of connexin 26.
Q40827776The MCP-1 Gene A-2518G Polymorphism Confers an Increased Risk of Vascular Complications in Type 2 Diabetes Mellitus Patients
Q92486533The Neuropeptide Vasoactive Intestinal Peptide Levels in Serum are Inversely Related to Disease Severity of Postmenopausal Osteoporosis: A Cross-Sectional Study
Q90412724The Nonsynonymous Polymorphisms Val276Met and Gly393Ser of E2F1 Gene are Strongly Associated with Lung, and Head and Neck Cancers
Q38126083The OGG1 Ser326Cys polymorphism and the risk of esophageal cancer: a meta-analysis
Q50347038The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family.
Q33721331The Oncormed approach to genetic testing
Q39194702The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews.
Q54635196The Paradox of Dickkopf-1: Tumor Suppressor and Tumor Enhancer.
Q48090111The 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.
Q92366450The Percentage of Anaplastic Lymphoma Kinase-Positive Tumor Cells Has Clinical Implications for Patients with Non-Small Cell Lung Cancer
Q90314385The Price of Precision: Genetic Testing and Drug Costs in America
Q50026981The Prognostic Value of Combinations of Genetic Polymorphisms in the ITGB3, ITGA2, and CYP2C19*2 Genes in Predicting Cardiovascular Outcomes After Coronary Bypass Grafting
Q85556383The Protective Effects of the VEGF -2578C>A and -1154G>A Polymorphisms Against Hypertension Susceptibility
Q34112150The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease
Q38453729The READIT assay as a method for genotyping NAT1*10 polymorphisms
Q87270543The Relationship Between Endothelial Nitric Oxide Synthase Gene (NOS3) Polymorphisms, NOS3 Expression, and Varicocele
Q51495629The Relationship Between Glutathione S-Transferase-P1 and Beta-2 Adrenoreceptor Genotypes with Asthmatic Patients in the Turkish Population.
Q40992885The Relationship Between Killer Cell Immunoglobulin-Like Receptors and HLA-C Polymorphisms in Colorectal Cancer in a Saudi Population.
Q95926528The Relationship of Single Nucleotide Polymorphisms in the TRPV1 Gene with Lipid Profile, Glucose, and Blood Pressure in Mexican Population
Q93098006The Rise of Noninvasive Diagnostic Technologies
Q92080719The Role of CADM1 and MAL Promoter Methylation in Inflammation and Cervical Intraepithelial Neoplasia
Q54237900The Role of Dermcidin in the Diagnosis and Staging of Hepatocellular Carcinoma.
Q88783760The Role of Interleukin-31 Polymorphisms in Non-Small Cell Lung Cancer Genetic Susceptibility and Clinical Outcome
Q90363708The Role of Patient Advocacy During a Time of Surprise Billing
Q34211497The Role of Plasminogen Activator Inhibitor-1 and Angiotensin-Converting Enzyme Gene Polymorphisms in Bronchopulmonary Dysplasia
Q40145474The SDF1 A/G Gene Variant: A Susceptibility Variant for Myocardial Infarction
Q49030120The Sensitive Detection of Telomerase Reverse Transcriptase Promoter Mutation by Amplification Refractory Mutation System-PCR.
Q49342571The Synergistic Effect of TNFA and IL10 Promoter Polymorphisms on Genetic Predisposition to Systemic Lupus Erythematosus.
Q51624075The 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.
Q104129546The T-182C Polymorphism Enhances Promoter Activity of the Norepinephrine Transporter Gene, but may not be Associated with Antidepressant Response
Q57417721The TDI-FP Assay in Human Y Chromosome SNP Haplotyping
Q90588163The TERT rs2736100 Polymorphism and Susceptibility to Myeloproliferative Neoplasms: A Systematic Review and Meta-Analysis
Q61850730The VNTR Polymorphism in the Human Dopamine Transporter Gene: Improved Detection and Absence of Association of VNTR Alleles with Attention-Deficit Hyperactivity Disorder
Q48100695The Western Australian family connections genealogical project: detection of familial occurrences of single gene and chromosomal disorders
Q34124912The actin-cytoskeleton pathway and its potential role in inflammatory bowel disease-associated human colorectal cancer.
Q43265111The analysis of the relationship between A1298C and C677T polymorphisms of the MTHFR gene with prostate cancer in Eskisehir population
Q86139991The answers in our blood: finding new uses for a prenatal test in oncology
Q34112112The apolipoprotein E gene and Taq1A polymorphisms in childhood obesity
Q33721245The application of medical decision analysis to genetic testing: an introduction
Q43726384The association between a common FCGR2A polymorphism and C-reactive protein and coronary artery disease revisited
Q54274858The association between development and progression of multinodular goiter and thyroid-stimulating hormone receptor gene D727E and P52T polymorphisms.
Q43885676The association between heterozygosity for UGT1A1*6, UGT1A1*28, and variation in the serum total-bilirubin level in healthy young Japanese adults
Q36308174The 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
Q41615143The association between serum ApoE genetic polymorphism and serum lipid level in hemodialysis patients
Q41635703The association of MDM2 c.346G>A genetic variant with the risk of osteosarcoma in Chinese
Q54459910The 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.
Q46077321The association of methylation in the promoter of APC and MGMT and the prognosis of Taiwanese CRC patients.
Q34779790The association of the MTHFR c.1625A>C genetic variant with the risk of congenital heart diseases in the Chinese
Q51344571The c.553G>T Genetic Variant of the APOA5 Gene and Altered Triglyceride Levels in the Asian Population: A Meta-Analysis of Case-Control Studies.
Q38005456The challenges of incorporating genetic testing in the unified national health system in Brazil
Q46734099The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians
Q39141183The contribution of the genetic variations of the matrix metalloproteinase-1 gene to the genetic susceptibility of gastric cancer
Q30903903The controversial p.Arg127His mutation in GJB2: report on three Portuguese hearing loss family cases
Q38937348The cyclooxygenase-1 C50T polymorphism is not associated with aspirin responsiveness status in stable coronary artery disease in Tunisian patients
Q44038057The effect of SIRT1 gene polymorphisms on ambulatory blood pressure of hypertensive patients in the Kazakh population
Q82091513The effect of preventability and severity levels of a genetic disorder on desire to communicate genetic testing information to family members
Q37587940The effects of ABCC2 G1249A polymorphism on the risk of resistance to antiepileptic drugs: a meta-analysis of the literature
Q53804171The 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.
Q37445920The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey.
Q37799610The expanding world of myotonic dystrophies: how can they be detected?
Q39148159The founder mutations in the BRCA1, BRCA2, and ATM genes in Moroccan Jewish women with breast cancer
Q84009314The gene of Bloom's syndrome: an autosomal recessive disorder with male dominance
Q84478713The genetic background difference between diabetic patients with and without nephropathy in a Taiwanese population by linkage disequilibrium mapping using 382 autosomal STR markers
Q33721229The genetics of Alzheimer disease and the application of molecular tests
Q47306451The genomic similarities with linguistic difference: a study among the Oraon and Munda tribes of the Ranchi district, Jharkhand, India
Q38317817The genotype distribution of the XRCC1, XRCC3, and XPD DNA repair genes and their role for the development of acute myeloblastic leukemia
Q88015082The global alliance for genomics & health
Q43728815The haystack is made of needles
Q84898167The impact of 5,10-methenyltetrahydrofolate synthetase polymorphism on diabetic nephropathy in the Taiwanese population
Q39106977The impact of common tumor necrosis factor haplotypes on the development of asthma in children: an Egyptian model.
Q34341025The impact of social contexts in testing for alpha-1 antitrypsin deficiency: the roles of physicians and others
Q54660061The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses.
Q42582986The importance of patient engagement
Q46201998The influence of g.19124G>a genetic polymorphism in the OPG gene on bone mineral density in Chinese women
Q34304663The influence of omeprazole on platelet inhibition of clopidogrel in various CYP2C19 mutant alleles
Q52604243The interleukin 6 -572 G>C (rs1800796) polymorphism is associated with the risk of developing acute coronary syndrome.
Q44735708The interleukin-6-572G/C gene polymorphism and the risk of intracranial aneurysms in a Chinese population
Q33721254The law, adolescents, and the APOE epsilon 4 genotype: a view from Canada
Q42282504The live-birth prevalence of mucopolysaccharidoses in Estonia
Q37587882The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry
Q43855142The methylation status of the DDX43 promoter in Chinese patients with chronic myeloid leukemia
Q38930663The microRNA-367 inhibits the invasion and metastasis of gastric cancer by directly repressing Rab23.
Q41691780The missing link in linkage analysis: the well sibling revisited
Q35966991The mitochondrial DNA 9-bp deletion polymorphism is a risk factor for hepatocellular carcinoma in the Chinese population
Q82841156The mitochondrial DNA variant 16189T>C is associated with coronary artery disease and myocardial infarction in Saudi Arabs
Q37143064The need to build trust: a perspective on disparities in genetic testing
Q43265637The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders
Q84709001The p53 codon 72 polymorphism and the risk of oral cancer in a Chinese Han population
Q33721225The personal and social consequences of Alzheimer disease
Q54528837The polymorphism of HLA-DR and -DQ allelic genes associated with intrahepatic cholestasis of pregnancy.
Q46203718The polymorphisms on Igkappa gene are related to susceptibility of breast cancer and gastric cancer
Q73742292The predictive value of BRCA1 and BRCA2 mutation testing
Q39733305The presence of functionally relevant toll-like receptor polymorphisms does not significantly correlate with development or outcome of sepsis
Q51887880The prevalence of consanguineous marriages in an underserved area in Lebanon and its association with congenital anomalies.
Q35036511The proportion of diploid 46,XX cells increases with time in women with Turner syndrome--a 10-year follow-up study.
Q43205614The protein tyrosine phosphatase, non-receptor type 22 R620W polymorphism does not confer susceptibility to psoriasis in the genetic homogeneous population of Crete
Q54276735The proto-oncogene KRAS and BRAF profiles and some clinical characteristics in colorectal cancer in the Turkish population.
Q33721260The psychological impact of genetic testing for Alzheimer disease
Q51002633The rate of sex chromosome aneuploidies in prenatal diagnosis and subsequent decisions in Western Turkey.
Q35006846The relationship between polymorphisms on chromosome 9p21 and age of onset of coronary heart disease in black and white women
Q36092745The 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
Q80757015The relationship of the ESR1 gene polymorphisms with the presence of coronary artery disease determined by coronary angiography
Q84431105The reliability of maternal serum triple test in prenatal diagnosis of fetal chromosomal abnormalities of pregnant Turkish women
Q73356705The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families
Q35836789The role of distress in uptake and response to predisposition genetic testing: the BMPR2 experience
Q80062526The role of financial factors in acceptance of clinical BRCA genetic testing
Q53815849The role of matrix metalloproteinase-2 promoter polymorphisms in coronary artery disease and myocardial infarction.
Q42608711The role of physician preferences in the choice of amniocentesis or chorionic villus sampling for prenatal genetic testing
Q53263933The role of test accuracy in predicting acceptance of genetic susceptibility testing for Alzheimer's disease.
Q82668553The role of the methylenetetrahydrofolate reductase 677 and 1298 polymorphisms in Cretan children with acute lymphoblastic leukemia
Q44445930The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus
Q36225325The rs10757278 polymorphism of the 9p21.3 locus is associated with premature coronary artery disease in Polish patients
Q40588156The rs251684 Variant of PLA2G4C Is Associated with Autism Spectrum Disorder in the Northeast Han Chinese Population
Q58661086The science, applications, and ethical concerns surrounding low copy number DNA analysis
Q51351254The 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.
Q53328198The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers.
Q39737496The use of a reverse hybridization strip assay for the study of hemochromatosis-associated gene mutations in Lebanon
Q81468025The use of ancestral haplotypes in the molecular diagnosis of familial breast cancer
Q78178433The use of genetic tests and genetic information by life insurance companies: does this differ from the use of routine medical information?
Q34439859The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
Q45303918The utilization and outcome of diagnostic, predictive, and prenatal genetic testing for huntington disease in johannesburg, South Africa
Q50456708The value of MLPA in Waardenburg syndrome.
Q80757006The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing
Q34777868Three new BLM gene mutations associated with Bloom syndrome
Q42938222Thrombophilic gene mutations in women with repeated spontaneous miscarriage
Q37277642Thymidylate synthase gene polymorphism and survival of colorectal cancer patients receiving adjuvant 5-fluorouracil.
Q49078572Time perspective in hereditary cancer: psychometric properties of a short form of the Zimbardo Time Perspective Inventory in a community and clinical sample
Q43005315Tissue-specific expression profiling of receptor for advanced glycation end products and its soluble forms in esophageal and lung cancer
Q87255696To Pay or Not to Pay? Is that the Question?
Q58592811To Test or Not to Test?
Q38021488To know or not to know: an update of the literature on the psychological and behavioral impact of genetic testing for Alzheimer disease risk
Q84181531To take or not to take genetic carrier tests: personal characteristics associated with taking recommended and nonrecommended tests
Q104610692Toll-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
Q39009493Toll-like receptor 6 and connective tissue growth factor are significantly upregulated in mitomycin-C-treated urothelial carcinoma cells under hydrostatic pressure stimulation.
Q54302881Toward optimal detection of the common prenatal aneuploidies by quantitative fluorescent-polymerase chain reaction: comparison of two commercial assays.
Q128964839Toward the Future: Perspectives on the Impacts of Genetic Testing and Biomarkers on Advancing Health Care
Q86027992Transcriptional expression analysis of survivin splice variants reveals differential expression of survivin-3α in breast cancer
Q74210394Transferrin 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
Q34993054Transforming growth factor-beta3 gene polymorphisms and nonsyndromic cleft lip and palate risk: a meta-analysis.
Q54272328Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.
Q33733422Transparency, openness, and genetic testing
Q54289469Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1.
Q46355638Trisomies 13 and 18: prenatal diagnosis and epidemiologic studies in Hawaii, 1986-1997.
Q51870417Trisomy 12p and monosomy 4p: phenotype-genotype correlation.
Q42250262Trp homozygotes at codon 64 of ADRB3 gene are protected against the risk of type 2 diabetes in the Kashmiri population.
Q85054122Trust It or Trash It? A Tool for Evaluating the Quality of Genetic Information
Q104058906Tumor Necrosis Factor Alpha Gene Polymorphisms Increase Susceptibility to Adenovirus Infection in Children and Are Correlated with Severity of Adenovirus-Associated Pneumonia
Q54383246Tumor necrosis factor alpha 308 G/A polymorphism and hepatocellular carcinoma risk in a Chinese population.
Q34113904Tumor necrosis factor-alpha and polycystic ovarian syndrome: a clinical, biochemical, and molecular genetic study
Q57641040Turning Toward Participants in Biobanking
Q81887588Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes
Q44136043Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin
Q47700015Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy
Q28215130Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2
Q50655830Two single-nucleotide polymorphisms in the DKK1 gene are associated with developmental dysplasia of the hip in the Chinese Han female population.
Q36476815UCP2 I/D modulated change in BMI during a lifestyle modification intervention study in Japanese subjects
Q47239950Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?
Q34011507Uncommon mutations and polymorphisms in the hemochromatosis gene
Q40783094Underlying ambiguities in genetic privacy legislation
Q84201173Understanding gene-environment interactions
Q33721220Understanding genetic testing for Alzheimer disease: medical and epidemiological background
Q33721241Understanding probabilistic risk in predisposition genetic testing for Alzheimer disease
Q46185821Universal newborn screening for Hb H disease in California
Q54410429Upregulation of Fecal Cytokeratin 19 Is Associated with Prognosis in Older Colorectal Cancer Patients
Q88995036Upregulation of HOXA10 Protein Expression Predicts Poor Prognosis for Colorectal Cancer
Q39347137Upregulation of miR-98 Inhibits Apoptosis in Cartilage Cells in Osteoarthritis
Q34309892Uptake, time course, and predictors of risk-reducing surgeries in BRCA carriers
Q93098017Urine-Based Liquid Biopsy for Nonurological Cancers
Q48523854Use of Bone Morphogenetic Protein 15 Polymorphisms to Predict Ovarian Stimulation Outcomes in Infertile Brazilian Women
Q83532375Use of ethnicity-specific sequence tag site markers for Y chromosome microdeletion studies
Q46867261Use of free fetal DNA in prenatal noninvasive detection of fetal RhD status and fetal gender by molecular analysis of maternal plasma
Q42696749Using Cost-Effectiveness Analysis to Quantify the Value of Genomic-Based Diagnostic Tests: Recommendations for Practice and Research
Q42966047Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations
Q33149054Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.
Q37067078Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia
Q91295512Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease
Q42564323VAV3 Gene Polymorphism Is Associated with Paget's Disease of Bone
Q47175623VEGF Polymorphisms Among Neovascular Age-Related Macular Degenerative Subjects in a Multiethnic Population.
Q86627703VEGF gene polymorphisms and susceptibility to colorectal cancer
Q38645579VEGFR2 Gene Polymorphism Correlates with Deep Venous Thrombosis Risk in Chinese Han Population
Q51519228VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease.
Q40745002VKORC1 -1639G/A and 1173 C/T Genetic Polymorphisms Influence Individual Differences in Warfarin Maintenance Dose
Q46540226VNTR polymorphism of the DRD4 locus in different Pakistani ethnic groups
Q46751607Validation of GNE:p.M712T identification by melting curve analysis
Q50200051Validation of Next-Generation Sequencer for 24-Chromosome Aneuploidy Screening in Human Embryos.
Q88459220Validation of a Chromosomal Microarray for Prenatal Diagnosis Using a Prospective Cohort of Pregnancies with Increased Risk for Chromosome Abnormalities
Q50343721Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1.
Q83510056Validation 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
Q58193847Validation of dHPLC for Molecular Diagnosis of β-Thalassemia in Southern Italy
Q39174283Validation of standards for quantitative assessment of JAK2 c.1849G>T (p.V617F) allele burden analysis in clinical samples
Q98229125Validation of the Hemochromatosis (2SNP+) Direct EUROArray Assay for the Molecular Diagnosis of HFE-Related Hereditary Hemochromatosis
Q57623820Validity and Utility of a LRRK2 G2019S Mutation Test for the Diagnosis of Parkinson's Disease
Q80062517Variable penetrance and expressivity of the splice altering 5T sequence in the cystic fibrosis gene
Q101118441Variants 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
Q90408302Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome
Q57947781Variants of Uncertain Clinical Significance as a Result of BRCA1/2 Testing: Impact of an Ambiguous Breast Cancer Risk Message
Q39172135Variants of the CDH1 (E-Cadherin) Gene Associated with Oral Clefts in the Thai Population.
Q38853258Variation of matrix metalloproteinase 1 and 3 haplotypes and their serum levels in patients with rheumatoid arthritis and osteoarthritis
Q36979515Variations in the PDCD6 gene are associated with increased uterine leiomyoma risk in the Chinese
Q45343672Variations of the COL1A1 gene promoter and the relation to developmental dysplasia of the hip.
Q73015976Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1
Q43689817Vascular behcet and mutations in thrombogenic genes: methylene tetrahydrofolate reductase, factor V, and prothrombin
Q43428976Vascular endothelial growth factor (VEGF) gene polymorphisms and colorectal cancer: a meta-analysis of epidemiologic studies
Q44221968Vascular endothelial growth factor +936 C/T gene polymorphism and glioma risk in a Chinese Han population
Q84183369Vascular endothelial growth factor -634G/C polymorphism associated with osteonecrosis of the femoral head in a Chinese population
Q44996631Vascular endothelial growth factor 936 c>T polymorphism increased oral cancer risk: evidence from a meta-analysis.
Q54363931Verification of multiplex ligation-dependent probe amplification probes in the absence of positive samples.
Q37767719Very 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?
Q95926480Visfatin and SREBP-1c mRNA Expressions and Serum Levels Among Egyptian Women with Polycystic Ovary Syndrome
Q39244359Vitamin D receptor ApaI gene polymorphism and tuberculosis susceptibility: a meta-analysis
Q43563830Vitamin D receptor BsmI polymorphism and osteoporosis risk: a meta-analysis from 26 studies
Q36638586Vitamin D receptor gene BsmI and FokI polymorphisms in relation to ovarian cancer risk in the Polish population
Q46271039Vitamin D receptor gene polymorphism and osteoporosis in the Turkish population
Q51529957Vitamin D-Binding Protein Is a Potential Urinary Biomarker of Irbesartan Treatment Response in Patients with IgA Nephropathy.
Q74741429Voluntary disclosure of BRCA1 mutation test results
Q38723028WNT5A Promoter Methylation Is Associated with Better Responses and Longer Progression-Free Survival in Colorectal Cancer Patients Treated with 5-Fluorouracil-Based Chemotherapy
Q48639175Web-site-based recruitment for research studies on abdominal aortic and intracranial aneurysms
Q91841404Weighted Gene Co-Expression Network Analysis Reveals Six Hub Genes Involved in and Tight Junction Function in Pancreatic Adenocarcinoma and their Potential Use in Prognosis
Q74741453What does my doctor think? Preferences for knowing the doctor's opinion among women considering clinical testing for BRCA1/2 mutations
Q38986417Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes
Q33721326Who should provide genetic education prior to gene testing? Computers and other methods for improving patient understanding
Q55043226Whole Blood PCR Amplification with Pfu DNA Polymerase and Its Application in Single-Nucleotide Polymorphism Analysis.
Q39734200Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy
Q47291172Whole Exome Sequencing Identified a Novel IGFBP6 Variant in a Disc Degeneration Pedigree
Q53020073Whole genome amplification on DNA from filter paper blood spot samples: an evaluation of selected systems.
Q90076039Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy
Q91629126Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases
Q38140064Whole-genome sequencing and infectious disease: a novel application of sequencing technology
Q39001971Whose Biobank? Should Biobanks Serve Research Interests or the Needs for Personalized Medicine? Analysis of the Hungarian Law.
Q59154208Why Do People Choose Not to Have Screening for Hemochromatosis?
Q87301355Will the wall come tumbling down?
Q54442695Williams-Beuren syndrome: diagnosis by polymorphic markers.
Q35621042Willingness to pay for genetic testing for Alzheimer's disease: a measure of personal utility
Q46293701Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry
Q53593990X-linked Menkes disease: first documented report of germ-line mosaicism.
Q84370675X;7 translocation in an Indian woman with hypergonadotropic amenorrhea-a case report
Q40734506XPG Gene Polymorphisms and the Risk of Gastric Cardia Adenocarcinoma
Q81432235Y chromosome microdeletions in infertile males from Andhra Pradesh, South India
Q28181333Y-chromosome DNA haplotypes in Jews: comparisons with Lebanese and Palestinians
Q84548529ZNF804A rs1344706 variant and schizophrenia in a Romanian population from Cluj Napoca
Q104610687lncRNA TINCR SNPs and Expression Levels Are Associated with Bladder Cancer Susceptibility
Q54394299mRNA expressions of inducible nitric oxide synthase, endothelial nitric oxide synthase, and neuronal nitric oxide synthase genes in meningitis patients.
Q93364638miR-146a rs2910164 Polymorphism and Risk of Papillary Thyroid Carcinoma: A Meta-Analysis
Q91420234miR-148a-3p Suppresses the Proliferation and Invasion of Esophageal Cancer by Targeting DNMT1
Q93338721miR-21 Contributes to Human Amniotic Membrane-Derived Mesenchymal Stem Cell Growth and Human Amniotic Membrane-Derived Mesenchymal Stem Cell-Induced Immunoregulation
Q53672283miR-26a promoted by interferon-alpha inhibits hepatocellular carcinoma proliferation and migration by blocking EZH2.
Q64093258miRNA-24 Gene Sequence, DHFR -829C-T Genotypes, and Methotrexate Response in Mexican Patients with Rheumatoid Arthritis
Q47902787miRNA-Related Polymorphisms in miR-423 (rs6505162) and PEX6 (rs1129186) and Risk of Esophageal Squamous Cell Carcinoma in an Iranian Cohort
Q46407965p.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.
Q39822081p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.
Q54407212p53 Codon 72 Polymorphism and Gastric Cancer Risk in a Chinese Han Population
Q58808658p53 Mutations, Polymorphisms, and Haplotypes in Pakistani Ethnic Groups and Breast Cancer Patients
Q54301400p53 and risk of endometriosis in Indian women.
Q64265416β-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
Q87374176β-catenin and K-ras mutations and RASSF1A promoter methylation in Taiwanese colorectal cancer patients
Q92658078κ 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