(Q24803748)

1

0 references

Nathalie Pallares-Ruiz

2

0 references

Anne Vielle

3

0 references

Valérie Faugère

4

0 references

Carine Templin

5

0 references

Dorothée Leprevost

6

0 references

Françoise Artières

7

0 references

Geneviève Lina

8

0 references

Nicolas Molinari

9

0 references

Patricia Blanchet

10

0 references

Michel Mondain

Connexin-26 mutations in sporadic and inherited sensorineural deafness

11

0 references

language of work or name

English

0 references

publication date

6 March 2004

0 references

published in

BMC Medical Genetics

0 references

volume

5

0 references

issue

1

0 references

page(s)

5

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

A genetic approach to understanding auditory function

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

Prevalent connexin 26 gene (GJB2) mutations in Japanese

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

Rapid, efficient method for multiplex amplification from filter paper

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

Connexin26 mutations associated with nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

Prevalence of GJB2 mutations in prelingual deafness in the Greek population

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

Connexin mutations in deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

The M34T allele variant of connexin 26.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

Connexin 26 studies in patients with sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

High frequency hearing loss correlated with mutations in the GJB2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

Connexin 26 Gene Mutations in Congenitally Deaf Children

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-5

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385234

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

28 November 2018

1 reference

12 December 2020

GJB2 (connexin 26) mutations and childhood deafness in Thailand

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-5-5

1 reference

1 reference

1 reference

PubMed publication ID

15070423

1 reference