Molecular epidemiology of DFNB1 deafness in France - Wikidata - wikimedia - TriplyDB

Molecular epidemiology of DFNB1 deafness in France

Molecular epidemiology of DFNB1 deafness in France

http://www.wikidata.org/entity/Q24803748

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First molecular screening of deafness in the Altai Republic population.The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)Modifiers of hearing impairment in humans and mice.The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.Pathogenetic role of the deafness-related M34T mutation of Cx26.[Etiologic profile of severe and profound sensorineural hearing loss in children in the region of north-central Morocco].Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.GJB2 mutations and degree of hearing loss: a multicenter study.Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.Functional evaluation of GJB2 variants in nonsyndromic hearing loss.The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.Connexin gene mutations among Ugandan patients with nonsyndromic sensorineural hearing loss.Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.Lower carrier rate of GJB2 W24X ancestral Indian mutation in Roma samples from Hungary: implication for public health intervention.Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations.Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.The prevalence of the 235delC GJB2 mutation in a Chinese deaf population.

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Molecular epidemiology of DFNB1 deafness in France

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Molecular epidemiology of DFNB1 deafness in France

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BMC Medical Genetics

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Molecular epidemiology of DFNB1 deafness in France

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Anne Vielle

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Anne-Françoise Roux

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Carine Templin

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Nicolas Molinari

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Patricia Blanchet

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P2860

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Connexin-26 mutations in sporadic and inherited sensorineural deafness

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

A genetic approach to understanding auditory function.

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