Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification (scientific article)

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Q35110475	Delineating an Epigenetic Continuum for Initiation, Transformation and Progression to Breast Cancer
Q34665890	Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
Q35630889	Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases
Q54642118	Design and generation of MLPA probe sets for combined copy number and small-mutation analysis of human genes: EGFR as an example.
Q41994552	Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes
Q50205426	Design, Validation, and Clinical Implementation of a Gap-Polymerase Chain Reaction Method for α-Thalassemia Genotyping Using Capillary Electrophoresis
Q83680991	Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome
Q24648626	Detailed analysis of 22q11.2 with a high density MLPA probe set
Q28392522	Detectable clonal mosaicism in the human genome
Q33856196	Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.
Q81155988	Detecting copy number changes in genomic DNA: MAPH and MLPA
Q84567578	Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency
Q53493348	Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).
Q83559654	Detection of Anti-Lepore Hb P-Nilotic by Multiplex Ligation-Dependent Probe Amplification
Q40481841	Detection of BRCA1 gross rearrangements by droplet digital PCR.
Q43872789	Detection of Carrier Status and Mutations in Family Members of a Child with Complete Deletion of the DAX1 Gene using Multiplex Ligation-Dependent Probe Amplification
Q84712084	Detection of Copy Number Variation Using SNP Genotyping
Q84454269	Detection of Deletions/Duplications in α-Globin Gene Cluster by Multiplex Ligation-Dependent Probe Amplification
Q37035359	Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay
Q51425986	Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.
Q51907423	Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment
Q37024677	Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification
Q41717391	Detection of clinically relevant copy number alterations in oral cancer progression using multiplexed droplet digital PCR.
Q52039118	Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay
Q48986959	Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method
Q54688035	Detection of genetically modified organisms in foods by DNA amplification techniques
Q24794630	Detection of large deletions in the LDL receptor gene with quantitative PCR methods
Q36803796	Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
Q36544069	Detection of recurrent cytogenetic aberrations in multiple myeloma: a comparison between MLPA and iFISH.
Q50114820	Detection of single nucleotide polymorphism by measuring extension kinetics with T7 exonuclease mediated isothermal amplification.
Q90622817	Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing
Q33276927	Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre
Q53749111	Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family.
Q33732298	Detection of tuberculosis drug resistance: a comparison by Mycobacterium tuberculosis MLPA assay versus Genotype®MTBDRplus.
Q50287541	Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey
Q82520801	Detection of α‐globin gene deletions using denaturing high‐performance liquid chromatography and multiplex ligation‐dependent probe amplification
Q40303934	Determination of genomic copy number with quantitative microsphere hybridization.
Q34683659	Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.
Q41827966	Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human α-globin gene cluster
Q37686322	Development of Database and Genomic Medicine for von Hippel-Lindau Disease in Japan
Q53399897	Development of Multiplex PCR Method for the Analysis of Glutathione S-Transferase Polymorphism
Q45854149	Development of a Nonfluorescent Multiplex Semiquantitative Polymerase Chain Reaction to Confirm Rearrangements Detected by Array-Comparative Genomic Hybridization
Q84286854	Development of a comprehensive detection method for medicinal and toxic plant species
Q43607548	Development of a comprehensive real-time PCR assay for dystrophin gene analysis and prenatal diagnosis of Chinese families
Q35211320	Development of a flow-through [corrected] microarray based reverse transcriptase multiplex ligation-dependent probe amplification assay for the detection of European Bunyaviruses. [corrected].
Q37004836	Development of a genotyping microarray for Usher syndrome
Q38905387	Development of multiplex assay for rapid characterization of Mycobacterium tuberculosis.
Q38167823	Diagnosis and prevention of thalassemia
Q36072260	Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing
Q35164918	Diagnosis of copper transport disorders
Q34427285	Diagnosis of the haemoglobinopathies
Q34114527	Diagnostic genome profiling in mental retardation
Q64240900	Diagnostic methods for Lysosomal Storage Disease
Q86701870	Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect
Q91971609	Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
Q95831914	Digital multiplex ligation assay for highly multiplexed screening of β-lactamase-encoding genes in bacterial isolates
Q41762967	Distinct Gene Profiles for Tumor and Non-Tumor Tissue in the Head and Neck: An Analytical Approach
Q37808258	Do ribosomopathies explain some cases of common variable immunodeficiency?
Q42383055	Does PTEN gene mutation play any role in Li-Fraumeni syndrome
Q24650735	Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
Q51329973	Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor
Q53643778	Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach
Q51240897	Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions
Q38587310	Dual roles for the telomeric repeats in chromosomally integrated human herpesvirus-6.
Q55038728	Duplicating SNPs
Q80135953	Duplications in the DMD gene
Q58493312	Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature
Q54660023	Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.
Q36338189	EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
Q96950861	EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
Q33275606	Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage.
Q85246987	Effects of Lactobacillus rhamnosus GG on saliva-derived microcosms
Q33804114	Effects of sedation on auditory brainstem response in Rett syndrome
Q47198694	Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification
Q36393069	Electrophoresis of DNA in human genetic diagnostics - state-of-the-art, alternatives and future prospects.
Q27319866	Elusive copy number variation in the mouse genome
Q37628138	Emerging molecular assays for detection and characterization of respiratory viruses
Q37424584	Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain
Q50303733	Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
Q58224409	Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus
Q41134756	Establishing the origin of metastatic deposits in the setting of multiple primary malignancies: the role of massively parallel sequencing
Q42709306	Establishment of a molecular diagnostic system for spinal muscular atrophy experience from a clinical laboratory in china
Q24644863	Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East
Q57054917	European guidelines for constitutional cytogenomic analysis
Q35834551	Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus.
Q43071782	Evaluation of MeningoFinder, a novel multiplex ligation-dependent probe amplification assay for simultaneous detection of six virus species causing central nervous system infections.
Q34045460	Evaluation of a DNA microarray, the check-points ESBL/KPC array, for rapid detection of TEM, SHV, and CTX-M extended-spectrum beta-lactamases and KPC carbapenemases
Q34655653	Evaluation of a polymerase chain reaction–electrospray ionization time-of-flight mass spectrometry for the detection and subtyping of influenza viruses in respiratory specimens
Q35701004	Evaluation of multiplex ligation dependent probe amplification (MLPA) for identification of acute lymphoblastic leukemia with an intrachromosomal amplification of chromosome 21 (iAMP21) in a Brazilian population.
Q37632013	Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset
Q58481829	Evaluation of multiplex ligation-dependent probe amplification as a method for the detection of copy number abnormalities in B-cell precursor acute lymphoblastic leukemia
Q35765237	Evaluation of two molecular techniques for rapid detection of the main dermatophytic agents of tinea capitis.
Q48266470	Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes
Q90149410	Evolutionary and functional impact of common polymorphic inversions in the human genome
Q38107846	Evolving Gene Targets and Technology in Influenza Detection
Q37416668	Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease.
Q33942262	Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome
Q34576234	Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.
Q39247139	Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.
Q42550062	Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome
Q36336477	Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations
Q47118584	Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis
Q40315433	Expression profiling via novel multiplex assay allows rapid assessment of gene regulation in defined signalling pathways
Q57234978	Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia
Q41257340	Extensive copy-number variation of the human olfactory receptor gene family
Q35777265	FOXE1 polyalanine tract length screening by MLPA in idiopathic premature ovarian failure
Q33417878	Factors determining penetrance in familial atypical haemolytic uraemic syndrome
Q36515959	Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia
Q34860604	Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity
Q37350151	Familial adenomatous polyposis of the colon
Q34023407	Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids
Q50633114	Familial cases of Norrie disease detected by copy number analysis
Q41933674	Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF‐I receptor (IGF1R) gene
Q34597176	Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
Q54787009	Fine-mapping chromosomal loss at 9p21: correlation with prognosis in primary cutaneous diffuse large B-cell lymphoma, leg type.
Q54348633	Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements
Q37084156	Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia
Q50422794	Frequency and specific characteristics of the incomplete partition type III anomaly in children.
Q37164520	Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families.
Q58006216	Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification
Q34756357	Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases
Q58407923	Frequent intragenic rearrangements of DPYD in colorectal tumours
Q35541602	Frequent p16-independent inactivation of p14ARF in human melanoma
Q37149910	From cytogenetics to next-generation sequencing technologies: advances in the detection of genome rearrangements in tumors
Q33805828	From microscopes to microarrays: dissecting recurrent chromosomal rearrangements
Q35681880	Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
Q36414822	Functional outcomes in Rett syndrome
Q34520146	Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association?
Q36091184	Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
Q50354805	GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss
Q33893718	Gain of 1q As a Prognostic Biomarker in Wilms Tumors (WTs) Treated With Preoperative Chemotherapy in the International Society of Paediatric Oncology (SIOP) WT 2001 Trial: A SIOP Renal Tumours Biology Consortium Study
Q35185392	Gain of 1q is associated with inferior event-free and overall survival in patients with favorable histology Wilms tumor: a report from the Children's Oncology Group
Q84934413	Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them
Q80833954	Gene expression profiling of minimal residual disease in acute myeloid leukaemia by novel multiplex-PCR-based method
Q39029136	Gene-dosage dependent overexpression at the 13q amplicon identifies DIS3 as candidate oncogene in colorectal cancer progression.
Q33401713	Generation and analysis of expressed sequence tags from six developing xylem libraries in Pinus radiata D. Don.
Q94545830	Genetic alterations in epidermal growth factor receptor-tyrosine kinase inhibitor-naïve non-small cell lung carcinoma
Q83446387	Genetic alterations in oral squamous cell carcinoma progression detected by combining array-based comparative genomic hybridization and multiplex ligation-dependent probe amplification
Q34048738	Genetic alterations of chromosome 8 genes in oral cancer.
Q35778429	Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.
Q38003193	Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management
Q89379670	Genetic and epigenetic changes in clonal descendants of irradiated human fibroblasts
Q37122495	Genetic diagnosis strategy of hereditary non-polyposis colorectal cancer
Q51855317	Genetic gains and losses in oral squamous cell carcinoma: impact on clinical management
Q36754598	Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer
Q33942130	Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease
Q42240179	Genetic imbalances detected by multiplex ligation-dependent probe amplification in a cohort of patients with oral squamous cell carcinoma-the first step towards clinical personalized medicine
Q40264381	Genetic methods for analysis of autoinflammatory diseases
Q53297210	Genetic model of transformation and neoplastic progression in laryngeal epithelium
Q53202150	Genetic profile of second primary tumors and recurrences in head and neck squamous cell carcinomas
Q41965446	Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.
Q37932545	Genetic stratification of neuroblastoma for treatment tailoring
Q81412971	Genetic subtyping of Fanconi anemia by comprehensive mutation screening
Q37880653	Genetic testing in renal disease
Q48283167	Genetic variation of human neutrophil Fcγ receptors and SIRPα in antibody-dependent cellular cytotoxicity towards cancer cells.
Q33722090	Genetic variation of the Fc gamma receptor 3B gene and association with rheumatoid arthritis.
Q38022900	Genetics and Pharmacogenomics in Pulmonary Arterial Hypertension
Q38818135	Genetics of Hereditary Angioedema Revisited
Q37999075	Genetics of neuromuscular disorders
Q37848057	Genome structural variation discovery and genotyping
Q79435491	Genome-wide linkage scan for breast cancer susceptibility loci in Swedish hereditary non-BRCA1/2 families: suggestive linkage to 10q23.32-q25.3.
Q98178342	Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution
Q33801063	Genomic ancestry and somatic alterations correlate with age at diagnosis in Hispanic children with B-cell acute lymphoblastic leukemia
Q92992879	Genomic characterization of MDR/XDR-TB in Kazakhstan by a combination of high-throughput methods predominantly shows the ongoing transmission of L2/Beijing 94-32 central Asian/Russian clusters
Q33247808	Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects
Q39031180	Genomic characterization of three urinary bladder cancer cell lines: understanding genomic types of urinary bladder cancer
Q51911362	Genomic copy number analysis in mental retardation: finding the needles in the haystack
Q41108615	Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia
Q52859644	Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.
Q36646164	Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach
Q44487321	Genomic evolution and polymorphism: Segmental duplications and haplotypes at 108 regions on 21 chromosomes
Q87769934	Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification
Q37998941	Genomic microarrays: a technology overview
Q37593704	Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families.
Q34562526	Genomic rearrangements in BRCA1 and BRCA2: A literature review.
Q43569224	Genomic rearrangements of the BRCA1 gene in Chilean breast cancer families: an MLPA analysis
Q30437852	Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa
Q83286423	Genotype and Laboratory and Clinical Phenotypes of Protein S Deficiency
Q61853276	Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
Q86068364	Genotype in the diagnosis of 21-hydroxylase deficiency: who should undergo CYP21A2 analysis?
Q51456631	Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population
Q41754374	Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.
Q36849250	Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.
Q39846036	Genotype-phenotype correlations in MYCN-related Feingold syndrome
Q61800786	Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients
Q61812051	Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia
Q24619813	Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
Q50478679	Genotyping Multiallelic Copy Number Variation with Multiplex Ligation-Dependent Probe Amplification (MLPA).
Q37154264	Germline CDH1 deletions in hereditary diffuse gastric cancer families
Q54198948	Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma
Q34100062	Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing
Q35118789	Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study
Q47109102	Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.
Q33570103	Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer
Q35104084	Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer
Q54352267	Germline copy number variation in the YTHDC2 gene: does it have a role in finding a novel potential molecular target involved in pancreatic adenocarcinoma susceptibility?
Q39882711	Germline mutation analysis of STK11 gene using direct sequencing and multiplex ligation-dependent probe amplification assay in Korean children with Peutz-Jeghers syndrome
Q83879718	Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients
Q37514623	Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa-Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature.
Q33500931	Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association
Q43174751	Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Q46782573	Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?
Q37175229	Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency.
Q73692260	Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome
Q35095875	Guidelines for optimisation of a multiplex oligonucleotide ligation-PCR for characterisation of microbial pathogens in a microsphere suspension array.
Q33397620	HER-2/neu amplification testing in breast cancer by Multiplex Ligation-dependent Probe Amplification: influence of manual- and laser microdissection
Q54441396	HNF1B alterations associated with congenital anomalies of the kidney and urinary tract
Q33960825	Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries
Q33559165	Haplotyping and copy number estimation of the highly polymorphic human beta-defensin locus on 8p23 by 454 amplicon sequencing
Q37824265	Her-2/neu testing and therapy in gastroesophageal adenocarcinoma
Q28248540	Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes
Q34563305	Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer
Q38303176	Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes.
Q33432503	Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion
Q35096827	Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort
Q35717912	Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array
Q35085535	Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.
Q24338242	Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
Q36414198	High copy number variation of cancer-related microRNA genes and frequent amplification of DICER1 and DROSHA in lung cancer.
Q43173796	High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension
Q41733577	High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
Q30832030	High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic
Q51786624	High prevalence of BRCA1 founder mutations in Greek breast/ovarian families
Q34562591	High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome
Q24647007	High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome
Q37348746	High resolution analysis of DNA copy-number aberrations of chromosomes 8, 13, and 20 in gastric cancers
Q42517615	High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome
Q84116344	High-resolution genome-wide analysis of chromosomal alterations in elastofibroma
Q34688430	High-resolution genomic microarrays for X-linked mental retardation.
Q34106761	High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs
Q46016570	High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes.
Q37471717	High-resolution melting analysis (HRMA): more than just sequence variant screening.
Q28251729	High-throughput droplet digital PCR system for absolute quantitation of DNA copy number
Q33327649	High-throughput homogeneous mass cleave assay technology for the diagnosis of autosomal recessive Parkinson's disease
Q35913459	High-throughput mRNA profiling characterizes the expression of inflammatory molecules in sepsis caused by Burkholderia pseudomallei
Q81569442	High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE
Q51134869	Highly multiplex and sensitive SNP genotyping method using a three-color fluorescence-labeled ligase detection reaction coupled with conformation-sensitive CE.
Q33705782	Highly sensitive and multiplexed quantification of mRNA splice variants by the direct ligation of DNA probes at the exon junction and universal PCR amplification.
Q54525298	Highly sensitive and quantitative detection of BCR-ABL kinase domain mutations by ligation PCR.
Q34550767	Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
Q83203418	Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report
Q46703525	Homozygosity for a rare beta 0-thalassemia mutation [frameshift codons 25/26 (+T)] causes beta-thalassemia intermedia in an Iranian family
Q41898533	Homozygous deletion of TNFRSF4, TP73, PPAP2B and DPYD at 1p and PDCD5 at 19q identified by multiplex ligation-dependent probe amplification (MLPA) analysis in pediatric anaplastic glioma with questionable oligodendroglial component.
Q33368488	Human MLPA Probe Design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assays
Q43064650	Human subtelomeric copy number variations
Q55340816	Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era.
Q55462040	IDH1/2 mutation is a prognostic marker for survival and predicts response to chemotherapy for grade II gliomas concomitantly treated with radiation therapy
Q36471719	IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome
Q27851563	IKZF1 deletions predict relapse in uniformly treated pediatric precursor B-ALL.
Q50965737	Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort
Q28271713	Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis
Q28273020	Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay
Q45861994	Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement.
Q58033502	Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations
Q36166929	Identification of BRCA1-like triple-negative breast cancers by quantitative multiplex-ligation-dependent probe amplification (MLPA) analysis of BRCA1-associated chromosomal regions: a validation study
Q53480838	Identification of Copy Number Variations in Isolated Tetralogy of Fallot
Q60679130	Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)
Q54374377	Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
Q28681416	Identification of Salmonella enterica serovar Typhi genotypes by use of rapid multiplex ligation-dependent probe amplification
Q41865492	Identification of a Cis-acting regulatory polymorphism in a Eucalypt COBRA-like gene affecting cellulose content
Q33888318	Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform
Q54266639	Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.
Q40985645	Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
Q35586967	Identification of a genomic reservoir for new TRIM genes in primate genomes
Q45906926	Identification of a new complex rearrangement affecting exon 20 of BRCA1.
Q92749928	Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
Q40238439	Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay
Q54346062	Identification of biomarkers for tuberculosis disease using a novel dual-color RT-MLPA assay.
Q34153211	Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients
Q33507516	Identification of copy number variants defining genomic differences among major human groups
Q33970356	Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.
Q47972889	Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: a comparison
Q81668458	Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)
Q36294690	Identification of disease genes by whole genome CGH arrays
Q28276610	Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man
Q80342475	Identification of individual genes altered in squamous cell carcinoma of the vulva
Q51895692	Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches
Q35505201	Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease
Q36343363	Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease
Q36930011	Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
Q37139243	Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation
Q37084060	Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols
Q37460174	Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes
Q91773359	Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology
Q48455787	Immunohistochemical analysis-based proteomic subclassification of newly diagnosed glioblastomas
Q35993199	Immunohistochemical, genetic and epigenetic profiles of hereditary and triple negative breast cancers. Relevance in personalized medicine
Q47836856	Implementation and Experience of an Alternative QF-PCR and MLPA Diagnostic Strategy to Detect Chromosomal Abnormalities in Fetal and Neonatal Pathology Samples
Q54280175	Improved Detection of Deletions and Duplications in the DMD Gene Using the Multiplex Ligation-Dependent Probe Amplification (MLPA) Method
Q37116791	Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis
Q47228605	Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method
Q50052114	Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity
Q35619359	Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.
Q35597950	Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations
Q34162496	Increase in Viral Load, Viral Integration, and Gain of Telomerase Genes during Uterine Cervical Carcinogenesis can be Simultaneously Assessed by the HPV 16/18 MLPA-Assay
Q47846748	Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.
Q90439802	Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population
Q40016309	Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver–Russell syndrome
Q28271520	Integration of gene dosage and gene expression in non-small cell lung cancer, identification of HSP90 as potential target
Q40044353	Intellectual ability in the duchenne muscular dystrophy and dystrophin gene mutation location.
Q37222603	International consensus for neuroblastoma molecular diagnostics: report from the International Neuroblastoma Risk Group (INRG) Biology Committee
Q53320739	Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations
Q95055300	Intestinal barrier function in patients undergoing colectomy
Q34134768	Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity
Q37626118	Intravenous immunoglobulins--understanding properties and mechanisms
Q21563357	Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD
Q39667693	Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects.
Q34589457	Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus
Q35610161	Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23
Q43437825	Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families
Q51028484	Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome
Q35204801	Large genomic deletions in CACNA1A cause episodic ataxia type 2
Q80305336	Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome
Q53524118	Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.
Q28285886	Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome
Q48315537	Large germline deletions and duplication in isolated cerebral cavernous malformation patients
Q84928442	Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes
Q43270898	Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients
Q83879709	Late-onset common cancers in a kindred with an Arg213Gln TP53 germline mutation
Q51902656	Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients
Q34301309	Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion
Q35681689	Lifetime cancer risks in individuals with germline PTEN mutations.
Q53863271	LigAmp for sensitive detection of single-nucleotide differences
Q35005638	Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.
Q40169023	Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients
Q24669780	Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
Q37173897	Low Prevalence of Mutations in Known Loci for Autosomal Dominant Hypercholesterolemia in a Multiethnic Patient Cohort
Q54294921	Low penetrance alleles as risk modifiers in familial and sporadic breast cancer.
Q21202148	MAPD: a probe design suite for multiplex ligation-dependent probe amplification assays
Q36082938	MLGA--a rapid and cost-efficient assay for gene copy-number analysis
Q37278351	MLGA: a cost-effective approach to the diagnosis of gene deletions in eye development anomalies.
Q64070087	MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years
Q54194415	MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai.
Q54684739	MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
Q35755758	MLPA and MAPH: new techniques for detection of gene deletions
Q37144406	MLPA and MAPH: sensitive detection of deletions and duplications
Q51906849	MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.
Q45875616	MLPA assay in F8 gene mutation screening
Q34243058	MLPA for confirmation of array CGH results and determination of inheritance
Q33796134	MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.
Q54419889	MLPA mutation detection in Argentine HNPCC and FAP families.
Q51705297	MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases
Q37653897	MLPA-Based Analysis of Copy Number Variation in Plant Populations.
Q52845998	MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.
Q34604720	MLPA-based genotype–phenotype analysis in 1053 Chinese patients with DMD/BMD
Q33622853	MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q
Q33527553	MLPAinter for MLPA interpretation: an integrated approach for the analysis, visualisation and data management of Multiplex Ligation-dependent Probe Amplification
Q33935527	MLPAstats: An R GUI package for the integrated analysis of copy number alterations using MLPA data
Q54451205	MS-MLPA reveals progressive age-dependent promoter methylation of tumor suppressor genes and possible role of IGSF4 gene in colorectal carcinogenesis of microsatellite instable tumors
Q40093452	MS-MLPA: an attractive alternative laboratory assay for robust, reliable, and semiquantitative detection of MGMT promoter hypermethylation in gliomas
Q36116220	MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiency
Q37201906	MUC5AC and inflammatory mediators associated with respiratory outcomes in the British 1946 birth cohort
Q97531496	Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England
Q35909230	Malignant and Nonmalignant Gene Signatures in Squamous Head and Neck Cancer
Q70337469	Malignant external otitis
Q50477964	Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion
Q34650701	Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR
Q45876564	Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
Q40499443	Measurement of relative copy number of CDKN2A/ARF and CDKN2B in bladder cancer by real-time quantitative PCR and multiplex ligation-dependent probe amplification
Q36767518	Mechanisms of disease: genetic causes of familial hypercholesterolemia
Q54988116	Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.
Q53432295	Metastatic sympathetic paraganglioma in a patient with loss of the SDHC gene.
Q37035269	Methods for routine diagnosis of genomic rearrangements: multiplex PCR-based methods and future perspectives.
Q34991280	Methylation of tumor suppressor genes is related with copy number aberrations in breast cancer
Q40985522	Methylation pattern analysis in prostate cancer tissue: identification of biomarkers using an MS-MLPA approach.
Q36143153	Methylation profile of triple-negative breast carcinomas
Q47336517	Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA).
Q24813458	Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences
Q54237934	Methylation-specific multiplex ligation-dependent probe amplification and its impact on clinical findings in medulloblastoma
Q36944246	Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles
Q81909828	Methylation-specific multiplex ligation-dependent probe amplification in meningiomas
Q90219103	Mexican BRCA1 founder mutation: Shortening the gap in genetic assessment for hereditary breast and ovarian cancer patients
Q44685853	MicroRNA signatures in hereditary breast cancer
Q34944632	Microarray MAPH: accurate array-based detection of relative copy number in genomic DNA.
Q33980278	Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy
Q34212342	Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Q50892467	Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification
Q64764170	Mitochondrial and autophagic alterations in skin fibroblasts from Parkinson disease patients with Parkin mutations
Q33718349	Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse
Q51345578	Mixed sequence reader: a program for analyzing DNA sequences with heterozygous base calling
Q39123899	Modified protocol for improvement of differentiation potential of menstrual blood-derived stem cells into adipogenic lineage.
Q33765634	Modulation-frequency encoded multi-color fluorescent DNA analysis in an optofluidic chip
Q37697812	Molecular analysis of holoprosencephaly in South America
Q38239185	Molecular analysis of miscarriage products using multiplex ligation-dependent probe amplification (MLPA): alternative to conventional karyotype analysis.
Q33468643	Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
Q57906760	Molecular biology of neuroblastoma
Q41881767	Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling
Q39552940	Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations
Q39793825	Molecular characterization of commonly used cell lines for bone tumor research: a trans-European EuroBoNet effort
Q52598175	Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community
Q37000422	Molecular characterization of head and neck cancer: how close to personalized targeted therapy?
Q54482516	Molecular copy-number counting: potential of single-molecule diagnostics
Q37331104	Molecular cytogenetic analysis of early spontaneous abortions conceived from varying assisted reproductive technology procedures.
Q83423012	Molecular diagnosis and clinical onset of Charcot–Marie–Tooth disease in Japan
Q34815369	Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
Q34215825	Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies
Q30403462	Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations
Q38018998	Molecular diagnosis of leukemia
Q40292451	Molecular diagnosis of neurofibromatosis type 1: 2 years experience
Q40109275	Molecular diagnosis utility of multiplex ligation-dependent probe amplification
Q36478647	Molecular diagnostics as a tool to personalize treatment in adult glioma patients
Q37780495	Molecular diagnostics of gliomas: state of the art.
Q34418549	Molecular genetic diagnostic techniques in choroideremia
Q64136531	Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population
Q35068417	Molecular identification of Clonorchis sinensis and discrimination with other opisthorchid liver fluke species using multiple Ligation-depended Probe Amplification (MLPA).
Q26829675	Molecular methods for genotyping complex copy number polymorphisms
Q43062153	Molecular profiling of invasive breast cancer by multiplex ligation-dependent probe amplification-based copy number analysis of tumor suppressor and oncogenes
Q39181104	Molecular stratification of medulloblastoma: comparison of histological and genetic methods to detect Wnt activated tumours
Q37712806	Molecular testing for clinical diagnosis and epidemiological investigations of intestinal parasitic infections
Q37997543	Molecular testing in melanoma
Q92446476	Molecular tools for the pathologic diagnosis of central nervous system tumors
Q80198734	Monoallelic or biallelic LMO2 expression in relation to the LMO2 rearrangement status in pediatric T-cell acute lymphoblastic leukemia
Q85005125	Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion
Q28388006	Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
Q52653945	Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability
Q36810588	Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).
Q47827397	Multicenter pilot study of radio-chemotherapy as first-line treatment for adults with medulloblastoma (NOA-07).
Q33575683	Multiplex Amplicon Quantification (MAQ), a fast and efficient method for the simultaneous detection of copy number alterations in neuroblastoma
Q85181743	Multiplex Ligation-Dependent Probe Amplification (MLPA®) for the Detection of Copy Number Variation in Genomic Sequences
Q47967528	Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature
Q94560939	Multiplex Ligation-Dependent Probe Amplification for Simultaneous Identification of Bungarus multicinctus and Its Common Adulterants in a Single Assay
Q37723312	Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects
Q55436817	Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.
Q40250491	Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene
Q33849607	Multiplex cDNA quantification method that facilitates the standardization of gene expression data
Q40558736	Multiplex identification of drug-resistant Gram-positive pathogens using stuffer-free MLPA system
Q38152370	Multiplex ligase-based genotyping methods combined with CE.
Q30009572	Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India
Q54243101	Multiplex ligation-dependent probe amplification (MLPA) for ultrasensitive multiplexed microRNA detection using ribonucleotide-modified DNA probes
Q39685329	Multiplex ligation-dependent probe amplification (MLPA): a reliable alternative for fetal chromosome analysis?
Q43206703	Multiplex ligation-dependent probe amplification analysis on capillary electrophoresis instruments for a rapid gene copy number study.
Q44092678	Multiplex ligation-dependent probe amplification and fluorescence in situ hybridization are complementary techniques to detect cytogenetic abnormalities in multiple myeloma
Q61039254	Multiplex ligation-dependent probe amplification and fluorescence in situ hybridization to detect chromosomal abnormalities in Chronic lymphocytic leukemia: A comparative study
Q45864866	Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia
Q37702139	Multiplex ligation-dependent probe amplification assay identifies additional copy number changes compared with R-band karyotype and provide more accuracy prognostic information in myelodysplastic syndromes
Q54342567	Multiplex ligation-dependent probe amplification for HER2 testing in breast cancer
Q84565784	Multiplex ligation-dependent probe amplification for detection of chromosomal abnormalities in myelodysplastic syndrome and acute myeloid leukemia
Q39515129	Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis
Q54187940	Multiplex ligation-dependent probe amplification validates LOH6q analyses and enhances insight into chromosome 6q aberrations in pediatric T-cell lymphoblastic leukemia and lymphoma
Q33856215	Multiplex ligation-dependent probe amplification versus multiprobe fluorescence in situ hybridization to detect genomic aberrations in chronic lymphocytic leukemia: a tertiary center experience
Q24685905	Multiplex ligation-dependent probe amplification: a diagnostic tool for simultaneous identification of different genetic markers in glial tumors
Q84285853	Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria
Q37998939	Multiplex ligation‐dependent probe amplification (MLPA) and prenatal diagnosis
Q54380221	Multiplex, Quantitative, Ligation-Dependent Probe Amplification for Determination of Allergens in Food
Q34760755	Multiplexed Methylation Profiles of Tumor Suppressor Genes in Bladder Cancer
Q34202639	Multiplexed methylation profiles of tumor suppressor genes and clinical outcome in lung cancer
Q36202844	Multiplexed, ligation‐dependent probe amplification for rapid and inexpensive HLA‐DQB1 allelotyping
Q36288806	Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.
Q41865938	Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria
Q45859579	Mutation analysis of factor VIII in Korean patients with severe hemophilia A.
Q62937148	Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple o
Q81112118	Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations
Q80093419	Mutation screening using fluorescence multiplex denaturing gradient gel electrophoresis (FMD): detecting mutations in the BRCA1 gene
Q37709224	Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses
Q52641666	Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations
Q45770643	Mutations in IL36RN in patients with generalized pustular psoriasis
Q34225781	Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
Q36969917	Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).
Q62644413	Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis
Q34927993	Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.
Q35069996	NEXN is a novel susceptibility gene for coronary artery disease in Han Chinese
Q51895154	NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
Q35098020	Narrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23.
Q38809979	Neurocognitive profiles in Duchenne muscular dystrophy and gene mutation site
Q37013290	Neuropathy in a human without the PMP22 gene.
Q37340439	New applications and developments in the use of multiplex ligation-dependent probe amplification
Q38088719	New clinical molecular diagnostic methods for congenital and inherited heart disease
Q37222766	New molecular techniques for the prenatal detection of chromosomal aneuploidy.
Q36184594	Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism
Q36753713	Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis
Q38817647	Next-generation sequencing as a tool for breakpoint analysis in rearrangements of the globin gene clusters
Q34356721	Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
Q93180556	Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus
Q64099349	Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer
Q80568636	No evidence for amplification of V617F JAK2 in myeloproliferative disorders
Q83388922	Non-invasive prenatal diagnosis of trisomy 21 by reverse transcriptase multiplex ligation-dependent probe amplification
Q37219409	Noninvasive molecular detection of head and neck squamous cell carcinoma: an exploratory analysis
Q51838415	Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting.
Q48191014	Novel ATP2A2 mutations in a large sample of individuals with Darier disease
Q42377409	Novel BRCA1 and BRCA2 genomic rearrangements in Southern Chinese breast/ovarian cancer patients
Q44967424	Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California
Q34325368	Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
Q44226465	Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence
Q33699316	Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region
Q51842688	Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria
Q34462834	Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome
Q49115051	Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
Q47857195	Novel multiplex qualitative detection using universal primer-multiplex-PCR combined with pyrosequencing
Q80860532	Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1
Q58605208	Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction
Q35138042	Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.
Q36260417	Nucleic acid amplification-based techniques for pathogen detection and identification
Q53427698	Occurrence of a non deleterious gene conversion event in the BRCA1 gene.
Q52097662	Odd MECP2-mutated Rett variant—long-term follow-up profile to age 25
Q34953729	Olfactory copy number association with age at onset of Alzheimer disease
Q37894742	Oligonucleotide microarrays in constitutional genetic diagnosis
Q54427880	Oncogenesis and classification of mixed-type liposarcoma: a radiological, histopathological and molecular biological analysis
Q35684205	Oncogenic Role of miR-15a-3p in 13q Amplicon-Driven Colorectal Adenoma-to-Carcinoma Progression
Q50932452	Optimal Fixation Conditions and DNA Extraction Methods for MLPA Analysis on FFPE Tissue-Derived DNA.
Q36611675	Optimal selection for BRCA1 and BRCA2 mutation testing using a combination of 'easy to apply' probability models
Q40131934	Optimized MOL-PCR for Characterization of Microbial Pathogens.
Q36478349	Overexpression of ERBB-2 was more frequently detected in malignant than benign pheochromocytomas by multiplex ligation-dependent probe amplification and immunohistochemistry
Q36299630	Overexpression of MAPK15 in gastric cancer is associated with copy number gain and contributes to the stability of c-Jun
Q37144409	Overview of molecular genetic diagnosis
Q38073748	Overview of molecular genetic diagnosis
Q35789246	PCR-based diagnostics for infectious diseases: uses, limitations, and future applications in acute-care settings
Q81149769	PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations
Q38280809	PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol
Q44483665	Parent's attitudes towards full-scale prenatal testing for genetic disorders
Q30906288	Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers
Q33879989	Pathways and Mechanisms that Prevent Genome Instability in Saccharomyces cerevisiae
Q37348461	Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario
Q37611184	Performance of MLPA as a screening method for aneuploidy in uncultured amniocytes
Q34181728	Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease
Q30009184	Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.
Q24300678	Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
Q34242996	Phenotypic Variation in IgG Receptors by Nonclassical FCGR2C Alleles
Q39997794	Phenotypic and genotypic characterization of orthotopic human glioma models and its relevance for the study of anti-glioma therapy.
Q24793998	PieceMaker: selection of DNA fragments for selector-guided multiplex amplification
Q21266611	Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence
Q35587015	Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study
Q35685281	Practical Prediction of Ten Common Streptococcus pneumoniae Serotypes/Serogroups in One PCR Reaction by Multiplex Ligation-Dependent Probe Amplification and Melting Curve (MLPA-MC) Assay in Shenzhen, China
Q43640443	Predictive genetic testing of a bone marrow recipient-ethical issues involving unexpected results, gender issues, test accuracy, and implications for the donor
Q82343338	Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 21
Q83102911	Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 8
Q38954748	Prenatal and pre-implantation genetic diagnosis
Q44111684	Prenatal diagnosis of haemophilia B: the Italian experience
Q44820973	Prevalence and differentiation of hereditary breast and ovarian cancers in Japan
Q33608652	Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia
Q40984370	Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate
Q52857616	Prevalence of 9p21 deletions in UK melanoma families
Q34633911	Prevalence of Pathological Germline Mutations of hMLH1 and hMSH2 Genes in Colorectal Cancer
Q81677599	Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families
Q37671215	Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps
Q37398084	Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns
Q57056221	Prevalence ofBRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectableBRCA1 andBRCA2 point mutations
Q42060293	Primary Clear Cell Microcystic Adenoma of the Sinonasal Cavity: Pathological or Fortuitous Association?
Q39438083	Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Q54514238	Primary retroperitoneal myxoid/round cell liposarcoma is a nonexisting disease: an immunohistochemical and molecular biological analysis
Q33387970	ProSeeK: a web server for MLPA probe design
Q33340181	Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA).
Q24817216	ProbeMaker: an extensible framework for design of sets of oligonucleotide probes
Q93001945	Prognosis, Biology, and Targeting of TP53 Dysregulation in Multiple Myeloma
Q54374707	Prognostic and predictive value of copy number alterations in invasive breast cancer as determined by multiplex ligation-dependent probe amplification
Q33764662	Prognostic significance of clinical, histopathological, and molecular characteristics of medulloblastomas in the prospective HIT2000 multicenter clinical trial cohort
Q54120651	Prognostic significance of copy number alterations detected by multi-link probe amplification of multiple genes in adult acute lymphoblastic leukemia
Q28087446	Prognostification of ALL by Cytogenetics
Q37532036	Progress in the detection of human genome structural variations
Q39867000	Promoter CpG island hypermethylation- and H3K9me3 and H3K27me3-mediated epigenetic silencing targets the deleted in colon cancer (DCC) gene in colorectal carcinogenesis without affecting neighboring genes on chromosomal region 18q21.
Q30988828	Promoter methylation and large intragenic rearrangements of DPYD are not implicated in severe toxicity to 5-fluorouracil-based chemotherapy in gastrointestinal cancer patients
Q87966864	Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms
Q55981841	Pulmonary Lymphangioleiomyomatosis in a Karyotypically Normal Man without Tuberous Sclerosis Complex
Q56262794	Pure de novo partial trisomy 6p in a girl with craniosynostosis
Q54534705	Pyrosequencing-based barcodes for a dye-free multiplex bioassay.
Q33507164	Quadruplex MAPH: improvement of throughput in high-resolution copy number screening.
Q33321040	Quantification of Cre-mediated recombination by a novel strategy reveals a stable extra-chromosomal deletion-circle in mice
Q27015506	Quantification of HER family receptors in breast cancer
Q37745803	Quantification of HER2 and estrogen receptor heterogeneity in breast cancer by single-molecule RNA fluorescence in situ hybridization
Q52322949	Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy.
Q35683623	Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness
Q81140444	Quantitative monitoring of cell clones carrying point mutations in the BCR-ABL tyrosine kinase domain by ligation-dependent polymerase chain reaction (LD-PCR)
Q33294115	Quantitative multiplex detection of plant pathogens using a novel ligation probe-based system coupled with universal, high-throughput real-time PCR on OpenArrays
Q33739723	REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Q36316169	RETRACTED ARTICLE: Hypermethylation of the 5′ CpG island of the p14ARF flanking exon 1β in human colorectal cancer displaying a restricted pattern of p53 overexpression concomitant with increased MDM2 expression
Q64264987	RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas
Q54255025	Rapid Detection of Aneuploidy and Unbalanced Chromosomal Rearrangements by Subtelomeric Multiplex Ligation-Dependent Probe Amplification in Fetuses with Congenital Heart Disease
Q54318340	Rapid Diagnosis of Aneuploidy by High-Resolution Melting Analysis of Segmental Duplications
Q30804681	Rapid Expansion of Human Epithelial Stem Cells Suitable for Airway Tissue Engineering.
Q34187018	Rapid analysis of Saccharomyces cerevisiae genome rearrangements by multiplex ligation-dependent probe amplification
Q37701161	Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions
Q24810631	Rapid and quantitative detection of homologous and non-homologous recombination events using three oligonucleotide MLPA.
Q50591653	Rapid and reliable determination of transgene zygosity in mice by multiplex ligation-dependent probe amplification.
Q34325401	Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples.
Q49125755	Rapid detection of VHL exon deletions using real-time quantitative PCR.
Q39477217	Rapid detection of aneuploidies on a benchtop sequencing platform
Q58739875	Rapid detection of copy number variations and point mutations in genes using a single workflow by ion semiconductor sequencing pipeline
Q37546232	Rapid detection of hepatitis B virus variants associated with lamivudine and adefovir resistance by multiplex ligation-dependent probe amplification combined with real-time PCR.
Q51942378	Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye.
Q35119970	Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR.
Q54709611	Rapid generation of detailed loss of heterozygosity profiles for routine diagnosis of gliomas
Q33499905	Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach
Q54419881	Rapid identification and characterization of Penicillium marneffei using multiplex ligation-dependent probe amplification (MLPA) in paraffin-embedded tissue samples
Q47942398	Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR.
Q37417342	Rapid identification of homologous recombinants and determination of gene copy number with reference/query pyrosequencing (RQPS)
Q54321506	Rapid identification of the copy number of α-globin genes by capillary electrophoresis analysis
Q37840679	Rapid methods for targeted prenatal diagnosis of common chromosome aneuploidies
Q33901657	Rapid screening for chromosomal aneuploidies using array-MLPA
Q33933716	Rapid screening of innate immune gene expression in zebrafish using reverse transcription - multiplex ligation-dependent probe amplification
Q30558715	Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype
Q36770065	Rare CNVs and Tag SNPs at 15q11.2 Are Associated With Schizophrenia in the Han Chinese Population
Q83554123	Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families
Q34647928	Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity
Q24801277	Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients
Q49580020	Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Q56978074	Ratiometric Fluorescence Coding for Multiplex Nucleic Acid Amplification Testing
Q50744675	Rearrangement in 22q11 implicated in Iranian patients with mental retardation
Q36948280	Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Q37809993	Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma
Q37769168	Recent developments in CE-based detection methods for food-borne pathogens
Q38594354	Recent patents and technology transfer for molecular diagnosis of β-thalassemia and other hemoglobinopathies
Q34876963	Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators
Q47992879	Reduced levels of miR-34a in neuroblastoma are not caused by mutations in the TP53 binding site.
Q28756633	Reduced purifying selection prevails over positive selection in human copy number variant evolution
Q51902091	Refinement of the genetic cause of ATR-16.
Q62030000	Relationship of immunohistochemistry, copy number aberrations and epigenetic disorders with BRCAness pattern in hereditary and sporadic breast cancer
Q97519177	Repurposing Pathogenic Variants of DMD Gene and its Isoforms for DMD Exon Skipping Intervention
Q40561256	Requirement for aspartate-cleaved bid in apoptosis signaling by DNA-damaging anti-cancer regimens.
Q41771410	RespiFinder: a new multiparameter test to differentially identify fifteen respiratory viruses
Q50438464	Reticulocyte parameters of delta beta thalassaemia trait, beta thalassaemia trait and iron deficiency anaemia.
Q44772094	Revisiting a Complex Rearrangement Involving a 619 Base Pairs Deletion, 6 Nucleotide Insertion Followed by a A > G Substitution Causing β°-Thalassemia
Q45872832	Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients
Q41885614	Robust detection of EGFR copy number changes and EGFR variant III: technical aspects and relevance for glioma diagnostics
Q60529794	Role of columnar cell lesions in breast carcinogenesis: analysis of chromosome 16 copy number changes by multiplex ligation-dependent probe amplification
Q55057300	Routine application of a novel MLPA-based first-line screening test uncovers clinically relevant copy number aberrations in haematological malignancies undetectable by conventional cytogenetics
Q38655720	Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies
Q36973859	Rubinstein-Taybi syndrome: clinical and molecular overview
Q51541942	SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome
Q36123225	SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct
Q41934765	SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome
Q35833523	SMN1 gene duplications are associated with sporadic ALS.
Q40773224	SNPWave: a flexible multiplexed SNP genotyping technology
Q36172165	SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
Q30619424	Same-day subtyping of Campylobacter jejuni and C. coli isolates by use of multiplex ligation-dependent probe amplification-binary typing
Q51649112	Screening for Genomic Rearrangements by Multiplex PCR/Liquid Chromatography
Q45792425	Screening for genomic rearrangements at BRCA1 locus in Iranian women with breast cancer using multiplex ligation-dependent probe amplification
Q94355835	Screening for germline rearrangements in and in Norwegian families with breast or breast/ovarian cancer
Q41788572	Screening for large rearrangements of the RB1 gene in Iranian patients with retinoblastoma using multiplex ligation-dependent probe amplification
Q34311111	Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome
Q57807080	Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients
Q34491810	Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication
Q92619047	Screening of the copy number increase of AKT in lung carcinoma by custom-designed MLPA
Q40413709	Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres
Q35888762	Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability
Q51906079	Seasonal reorganization of the xylem transcriptome at different tree ages reveals novel insights into wood formation in Pinus radiata
Q33691512	Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
Q48125381	Secondary glioblastomas with IDH1/2 mutations have longer glioma history from preceding lower-grade gliomas
Q35880493	Selective induction of chemotherapy resistance of mammary tumors in a conditional mouse model for hereditary breast cancer
Q54595783	Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterization
Q34358575	Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants
Q30983403	Sequencing data and MLPA analysis data in support of the effectiveness and reliability of an asymmetric PCR-Based approach in preparing long MLPA probes
Q43411833	Significance of complete 1p/19q co-deletion, IDH1 mutation and MGMT promoter methylation in gliomas: use with caution.
Q36662506	Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations
Q28534985	Simple and versatile molecular method of copy-number measurement using cloned competitors
Q34688753	Simple, Rapid and Inexpensive Quantitative Fluorescent PCR Method for Detection of Microdeletion and Microduplication Syndromes
Q36022999	Simultaneous Identification of 29 Prevalent Invasive Pneumococcal Serotypes or Pairs of Serotypes by Hybridization-Ligation PCR
Q33918432	Simultaneous Identification of Ten Bacterial Pathogens Using the Multiplex Ligation Reaction Based on the Probe Melting Curve Analysis
Q58455730	Simultaneous MLPA-based multiplex point mutation and deletion analysis of the Dystrophin gene
Q92432816	Simultaneous detection of 15 respiratory pathogens with a fluorescence probe melting curve analysis-based multiplex real-time PCR assay
Q37641695	Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples
Q54469332	Simultaneous detection of DNA from 10 food allergens by ligation-dependent probe amplification
Q60529816	Simultaneous detection of TOP2A and HER2 gene amplification by multiplex ligation-dependent probe amplification in breast cancer
Q51740291	Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene
Q48681218	Simultaneous use of multiplex ligation-dependent probe amplification assay and flow cytometric DNA ploidy analysis in patients with acute leukemia
Q36272624	Single cell analysis of cancer cells using an improved RT-MLPA method has potential for cancer diagnosis and monitoring.
Q42120287	Smooth muscle homeostasis in human atherosclerotic plaques through interleukin 15 signalling
Q53569017	Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types
Q54483060	Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome
Q37279312	Somatic copy number changes in DPYD are associated with lower risk of recurrence in triple-negative breast cancers
Q36024125	Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz-Jeghers syndrome.
Q52060614	Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study
Q81471342	Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients
Q89966245	Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?
Q58193608	Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification
Q30436113	Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene
Q34354073	Stat1 activation attenuates IL-6 induced Stat3 activity but does not alter apoptosis sensitivity in multiple myeloma
Q41735203	Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
Q36474973	Strategies for the detection of copy number and other structural variants in the human genome
Q54707408	Strategies for the rapid prenatal diagnosis of chromosome aneuploidy
Q30574042	Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model
Q22122017	Structural variation in the human genome
Q39281537	Stuffer‐free multiplex ligation‐dependent probe amplification based on conformation‐sensitive capillary electrophoresis: A novel technology for robust multiplex determination of copy number variation
Q38286640	Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis
Q35933306	Submicroscopic copy-number variations associated with 46,XY disorders of sex development
Q38507628	Subnuclear proteomics in colorectal cancer: identification of proteins enriched in the nuclear matrix fraction and regulation in adenoma to carcinoma progression.
Q39067482	Subtelomeric Microduplications in Three Sisters with Moderate Mental Retardation
Q55465502	Subtelomeric analysis of pediatric astrocytoma: subchromosomal instability is a distinctive feature of pleomorphic xanthoastrocytoma.
Q34982585	Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study
Q36147917	Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods
Q51944545	Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).
Q34695633	Subtelomeric multiplex ligation-dependent probe amplification as a supplement for rapid prenatal detection of fetal chromosomal aberrations
Q36120016	Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.
Q60301211	TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting
Q92842212	TWO SYNCHRONOUS PITUITARY ADENOMAS CAUSING CUSHING DISEASE AND ACROMEGALY
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Q36189869	Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.
Q38310024	Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments
Q30477238	The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
Q47127499	The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population
Q57741875	The BRCA1 exon 13 duplication in the Swedish population
Q92106275	The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Q42211106	The Fc gamma receptor IIa R131H polymorphism is associated with inhibitor development in severe hemophilia A.
Q90480167	The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
Q54637633	The Nature and Timing of Specific Copy Number Changes in the Course of Molecular Progression in Diffuse Gliomas: Further Elucidation of Their Genetic “Life Story”
Q49428299	The Utilization of Karyotyping, iFISH, and MLPA for the Detection of Recurrence Genetic Aberrations in Multiple Myeloma
Q34705212	The clinical spectrum of complete FBN1 allele deletions
Q50306612	The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Q34061985	The combination of IDH1 mutations and MGMT methylation status predicts survival in glioblastoma better than either IDH1 or MGMT alone.
Q36785968	The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma
Q34981301	The detection of large deletions or duplications in genomic DNA.
Q38399597	The detection of mosaicism by prenatal BoBs™.
Q50778498	The effect of pedigree structure on detection of deletions and other null alleles
Q33430491	The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients
Q33847296	The functional impact of structural variation in humans
Q79774761	The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study
Q34618184	The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease
Q93117312	The genetic evolution of metastatic uveal melanoma
Q38240224	The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape
Q24628541	The mechanism of expansion and the volatility it created in three pheromone gene clusters in the mouse (Mus musculus) genome
Q38997774	The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.
Q44511151	The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome
Q87196000	The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?
Q36730893	The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
Q36416187	The role of double-stranded break repair in the creation of phenotypic diversity at cereal VRN1 loci.
Q41738609	The use of a multiplex real-time PCR assay for diagnosing acute respiratory viral infections in children attending an emergency unit
Q35125795	The use of a two-tiered testing strategy for the simultaneous detection of small EGFR mutations and EGFR amplification in lung cancer
Q51948405	The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation
Q34474581	Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy
Q34298251	Three isothermal amplification techniques for rapid identification of Cladophialophora carrionii, an agent of human chromoblastomycosis
Q28757205	Toll-like receptor 2 impairs host defense in gram-negative sepsis caused by Burkholderia pseudomallei (Melioidosis)
Q33289823	Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation
Q30472761	Transcriptome profiling of Pinus radiata juvenile wood with contrasting stiffness identifies putative candidate genes involved in microfibril orientation and cell wall mechanics
Q35037605	Transcriptome profiling of radiata pine branches reveals new insights into reaction wood formation with implications in plant gravitropism
Q38488132	Transcriptomics: the key to biomarker discovery during tuberculosis?
Q91591559	Transient and chronic childhood immune thrombocytopenia are distinctly affected by Fc-γ receptor polymorphisms
Q47900118	Treatment with an anti-CD14 monoclonal antibody delays and inhibits lipopolysaccharide-induced gene expression in humans in vivo
Q85390211	Triblock copolymer-based microchip device for rapid analysis of stuffer-free multiplex ligation-dependent probe amplification products
Q54374772	Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA
Q55339783	TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.
Q83219759	Two case reports of inherited antithrombin deficiency: a novel frameshift mutation and a large deletion including all seven exons detected using two methods
Q45212791	Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys].
Q37334983	Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention
Q28728992	Two new rapid SNP-typing methods for classifying mycobacterium tuberculosis complex into the main phylogenetic lineages
Q54540697	Two non-contiguous duplications in the DMD gene in a Spanish family
Q62937182	Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses
Q46209795	Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non‐selective application of a MLPA‐based extended prenatal panel in routine prenatal diagnosis
Q26777213	Understanding the Basics of NGS: From Mechanism to Variant Calling
Q37717971	Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis
Q34565598	Unilateral sporadic retinal dysplasia: results of histopathologic, immunohistochemical, chromosomal, genetic, and VEGF-A analyses.
Q52879372	Unique Familial MLL(KMT2A)-Rearranged Precursor B-Cell Infant Acute Lymphoblastic Leukemia in Non-twin Siblings
Q85404719	Universal nucleic acid sequence-based amplification for simultaneous amplification of messengerRNAs and microRNAs
Q38263265	Universal probe amplification: multiplex screening technologies for genetic variations
Q97526929	Update in Laboratory Diagnosis of Thalassemia
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Q41788200	Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease
Q38299883	Use of multiplex PCR and CE for gene dosage quantification and its biomedical applications for SMN, PMP22, and alpha-globin genes
Q42993804	Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia
Q35866022	Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.
Q51018567	Using MS-MLPA as an efficient screening tool for detecting 9p21 abnormalities in pediatric acute lymphoblastic leukemia
Q33965328	Using genetics and genomics strategies to personalize therapy for cancer: focus on melanoma
Q83171980	Utility of Array CGH in Molecular Diagnosis of Mitochondrial Disorders
Q36064194	Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy
Q36442445	Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes
Q35906321	Utility of multiplex ligation-dependent probe amplification (MLPA) for hemophilia mutation screening.
Q33912197	Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance.
Q40205433	Variability at the FCGR locus: characterization in Black South Africans and evidence for ethnic variation in and out of Africa.
Q48289049	Variable human phenotype associated with novel deletions of the PHOX2B gene
Q36924486	Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).
Q46252280	Variation of CNV distribution in five different ethnic populations
Q36944273	WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient
Q33869662	Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation
Q34166073	Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
Q98178017	Working together for the family: determination of HER oncogene co-amplifications in breast cancer
Q34326039	Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance
Q95541615	[Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification]
Q82366788	[Hereditary non polyposis colon cancer: diagnosis and management]
Q81190552	[Nasosinusal adenocarcinoma: molecular and genetic analysis by MLPA]
Q34395855	dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations
Q36616145	hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients
Q42126374	miRNAs as serum biomarkers for Duchenne muscular dystrophy
Q36356887	panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics
Q89022549	qEva-CRISPR: a method for quantitative evaluation of CRISPR/Cas-mediated genome editing in target and off-target sites
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Q28972372	α-thalassaemia
Q51567238	‘Next‐base’ effect on PCR amplification

P356	DOI	10.1093/NAR/GNF056
P8608	Fatcat ID	release_mzwc6rq6u5ernb2nom5se3ecgq
P3181	OpenCitations bibliographic resource ID	1271693
P932	PMC publication ID	117299
P698	PubMed publication ID	12060695
P5875	ResearchGate publication ID	279240132

P2093	author name string	Gerard Pals
		Cathal J McElgunn
		Danny Zwijnenburg
		Filip Diepvens
		Jan P Schouten
		Raymond Waaijer
P2860	cites work	AFLP: a new technique for DNA fingerprinting	Q24620887
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		Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors	Q29618818
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		Assembly of microarrays for genome-wide measurement of DNA copy number	Q34099918
		The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group	Q34141842
		Role of Herceptin in primary breast cancer: views from North America and Europe	Q34428798
		BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients	Q34444787
		Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH)	Q35196163
		Comparative genomic hybridization reveals extensive variation among different MCF-7 cell stocks	Q38465669
		Detection and quantitation of HER-2/neu gene amplification in human breast cancer archival material using fluorescence in situ hybridization	Q38477505
		Becker muscular dystrophy: correlation of deletion type with clinical severity	Q41670916
		Ever since Knudson	Q53395377
		MSH2 genomic deletions are a frequent cause of HNPCC	Q62977773
		Hybridization selection of covalent nucleic acid-protein complexes. 2. Cross-linking of proteins to specific Escherichia coli mRNAs and DNA sequences by formaldehyde treatment of intact cells	Q69900371
		The DNA region around the c-myc gene and its amplification in human tumour cell lines	Q72241967
		New amplified and highly expressed genes discovered in the ERBB2 amplicon in breast cancer by cDNA microarrays	Q77220709
P433	issue	12
P407	language of work or name	English	Q1860
P304	page(s)	e57
P577	publication date	2002-06-01
P1433	published in	Nucleic Acids Research	Q135122
P1476	title	Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
P478	volume	30

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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