(Q56923316)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15150777%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

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

1 reference

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28 December 2019

1 reference

3

1 reference

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28 December 2019

Sébastien Schmerber

8

1 reference

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28 December 2019

Christine Petit

31

1 reference

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28 December 2019

22

Olivier Sterkers

1 reference

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28 December 2019

21

Didier Bouccara

1 reference

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28 December 2019

author name string

Delphine Feldmann

1

1 reference

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28 December 2019

Françoise Denoyelle

2

1 reference

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28 December 2019

Eréa-Noël Garabédian

4

1 reference

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28 December 2019

Rémy Couderc

5

1 reference

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28 December 2019

Sylvie Odent

6

1 reference

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28 December 2019

Alain Joannard

7

1 reference

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28 December 2019

Bruno Delobel

9

1 reference

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28 December 2019

Jacques Leman

10

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28 December 2019

Hubert Journel

11

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28 December 2019

Hélène Catros

12

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28 December 2019

Cédric Le Maréchal

13

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28 December 2019

Hélène Dollfus

14

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28 December 2019

Marie-Madeleine Eliot

15

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28 December 2019

Jean-Pierre Delaunoy

16

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28 December 2019

Albert David

17

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28 December 2019

Catherine Calais

18

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28 December 2019

Valérie Drouin-Garraud

19

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28 December 2019

Marie-Françoise Obstoy

20

1 reference

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28 December 2019

Patrice Tran Ba Huy

23

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28 December 2019

Cyril Goizet

24

1 reference

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28 December 2019

Françoise Duriez

25

1 reference

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28 December 2019

Florence Fellmann

26

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28 December 2019

Jocelyne Hélias

27

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28 December 2019

Jacqueline Vigneron

28

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28 December 2019

Bétina Montaut

29

1 reference

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28 December 2019

Patricia Lewin

30

1 reference

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28 December 2019

Sandrine Marlin

32

1 reference

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28 December 2019

language of work or name

English

0 references

publication date

1 June 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15150777%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

28 December 2019

published in

1 reference

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28 December 2019

volume

127A

1 reference

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28 December 2019

issue

3

1 reference

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28 December 2019

page(s)

263-267

1 reference

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Prevalent connexin 26 gene (GJB2) mutations in Japanese

28 December 2019

cites work

1 reference

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

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

1 reference

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

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/10.1002%2FAJMG.A.20588

Connexin-26 mutations in sporadic and inherited sensorineural deafness

21 January 2018

1 reference

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

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

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

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

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

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

21 January 2018

1 reference

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

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

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

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

21 January 2018

1 reference

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

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

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

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

21 January 2018

1 reference

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

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.20588

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15150777%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference