Molecular epidemiology of DFNB1 deafness in France (Q24803748)

1

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Nathalie Pallares-Ruiz

2

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Anne Vielle

3

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Valérie Faugère

4

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Carine Templin

5

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Dorothée Leprevost

6

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Françoise Artières

7

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Geneviève Lina

8

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Nicolas Molinari

9

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Patricia Blanchet

10

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Michel Mondain

Connexin-26 mutations in sporadic and inherited sensorineural deafness

11

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language of work or name

English

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publication date

6 March 2004

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published in

BMC Medical Genetics

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volume

5

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issue

1

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page(s)

5

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cites work

1 reference

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

7 April 2017

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

7 April 2017

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

7 April 2017

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

7 April 2017

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A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

7 April 2017

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

7 April 2017

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

7 April 2017

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Functional analysis of connexin-26 mutants associated with hereditary recessive deafness

28 September 2017

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Prevalence of HFE mutations in people from North Africa living in southern France.

28 September 2017

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Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana

28 September 2017

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A genetic approach to understanding auditory function

28 September 2017

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Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

28 September 2017

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Prevalent connexin 26 gene (GJB2) mutations in Japanese

28 September 2017

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Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method

28 September 2017

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Rapid, efficient method for multiplex amplification from filter paper

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Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss

28 September 2017

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A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

28 September 2017

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Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

30 May 2018

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Molecular cloning and functional expression of mouse connexin-30,a gap junction gene highly expressed in adult brain and skin

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Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.

21 January 2018

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Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

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Connexin26 mutations associated with nonsyndromic hearing loss

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Connexin26 gene ( GJB2): prevalence of mutations in the Chinese population

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Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan

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Connexin 26 R143W Mutation Associated with Recessive Nonsyndromic Sensorineural Deafness in Africa

21 January 2018

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The prevalence of connexin 26 ( GJB2) mutations in the Chinese population

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Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness

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Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

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Prevalence of GJB2 mutations in prelingual deafness in the Greek population

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Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria

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Connexin mutations in deafness

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The M34T allele variant of connexin 26.

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Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression

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Connexin 26 studies in patients with sensorineural hearing loss

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High frequency hearing loss correlated with mutations in the GJB2 gene

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Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness

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Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

21 January 2018

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High carrier frequency of the 35delG deafness mutation in European populations

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Connexin 26 Gene Mutations in Congenitally Deaf Children

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Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

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GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

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High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness

28 November 2018

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Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation

28 November 2018

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12 December 2020

GJB2 (connexin 26) mutations and childhood deafness in Thailand

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12 December 2020

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

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Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

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12 December 2020

Identifiers

DOI

10.1186/1471-2350-5-5

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1 reference

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PubMed publication ID

15070423

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