Large deletion of theGJB6gene in deaf patients heterozygous for theGJB2gene mutation: Genotypic and phenotypic analysis (Q56923316)

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28 December 2019

title

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis (English)

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28 December 2019

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28 December 2019

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28 December 2019

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28 December 2019

Olivier Sterkers

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28 December 2019

Didier Bouccara

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28 December 2019

Delphine Feldmann

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28 December 2019

Françoise Denoyelle

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28 December 2019

Eréa-Noël Garabédian

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28 December 2019

Rémy Couderc

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28 December 2019

Sylvie Odent

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28 December 2019

Alain Joannard

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28 December 2019

Bruno Delobel

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Jacques Leman

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Hubert Journel

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Hélène Catros

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Cédric Le Maréchal

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28 December 2019

Hélène Dollfus

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28 December 2019

Marie-Madeleine Eliot

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28 December 2019

Jean-Pierre Delaunoy

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28 December 2019

Albert David

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Catherine Calais

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Valérie Drouin-Garraud

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Marie-Françoise Obstoy

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Patrice Tran Ba Huy

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28 December 2019

Cyril Goizet

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28 December 2019

Françoise Duriez

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28 December 2019

Florence Fellmann

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28 December 2019

Jocelyne Hélias

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Jacqueline Vigneron

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28 December 2019

Bétina Montaut

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28 December 2019

Patricia Lewin

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28 December 2019

Sandrine Marlin

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28 December 2019

language of work or name

English

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publication date

1 June 2004

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American Journal of Medical Genetics

28 December 2019

published in

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28 December 2019

volume

127A

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28 December 2019

issue

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28 December 2019

page(s)

263-267

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Prevalent connexin 26 gene (GJB2) mutations in Japanese

28 December 2019

cites work

1 reference

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A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

1 reference

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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

1 reference

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

21 January 2018

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Connexin 26 mutations in cases of sensorineural deafness in eastern Austria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20588

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20588

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

21 January 2018

1 reference

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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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20588

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

21 January 2018

1 reference

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Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12

21 January 2018

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

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Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment

21 January 2018

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Sensorineural hearing loss and the incidence of Cx26 mutations in Austria

21 January 2018

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Expression of the gap-junction connexins 26 and 30 in the rat cochlea

21 January 2018

1 reference

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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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20588

Prevalence of GJB2 mutations in prelingual deafness in the Greek population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20588

High frequency hearing loss correlated with mutations in the GJB2 gene

21 January 2018

1 reference

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Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.20588

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28 December 2019

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