High carrier frequency of the 35delG deafness mutation in European populations
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Autosomal recessive nonsyndromic deafness genes: a reviewAutosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblingsFirst molecular screening of deafness in the Altai Republic population.Molecular epidemiology of DFNB1 deafness in FranceC.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment.Genetics of hearing loss in Africans: use of next generation sequencing is the best way forwardGJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE reviewANNOVAR: functional annotation of genetic variants from high-throughput sequencing dataHeterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.Genetics: A New Frontier in Otology.Significance of heterozygosis M34T mutation of GJB2 gene in non-syndromic congenital deafness. Retrospective analysis of 12,472 samples of amniotic fluid.Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study.Modifiers of hearing impairment in humans and mice.Function and expression pattern of nonsyndromic deafness genesA genotype-phenotype correlation for GJB2 (connexin 26) deafness.A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genesStatistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.Identification of copy number variants defining genomic differences among major human groupsForty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier geneLow prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effectsConnexin mutations in skin disease and hearing loss.Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.Bayesian model to detect phenotype-specific genes for copy number dataA rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean populationCarrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia.Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicityAbsence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative studyScreening of connexin 26 in nonsyndromic hearing loss.Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing lossMutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, ChinaMutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan.Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technologyHaplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of RussiaCarrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese populationLow prevalence of GJB2 mutations in non-syndromic hearing loss in Western IndiaConnexins in hearing loss: a comprehensive overview.A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population.
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P2860
High carrier frequency of the 35delG deafness mutation in European populations
description
im Januar 2000 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в січні 2000
@uk
name
High carrier frequency of the 35delG deafness mutation in European populations
@en
High carrier frequency of the 35delG deafness mutation in European populations
@nl
type
label
High carrier frequency of the 35delG deafness mutation in European populations
@en
High carrier frequency of the 35delG deafness mutation in European populations
@nl
prefLabel
High carrier frequency of the 35delG deafness mutation in European populations
@en
High carrier frequency of the 35delG deafness mutation in European populations
@nl
P2093
P50
P356
P1476
High carrier frequency of the 35delG deafness mutation in European populations
@en
P2093
Eneli Oitmaa
Karen Brøndum-Nielsen
Leopoldo Zelante
Michael Petersen
Paolo Fortina
Paolo Gasparini
Salvatore Melchionda
P2888
P356
10.1038/SJ.EJHG.5200406
P577
2000-01-01T00:00:00Z