(Q34137503)

31 July 2017

title

GJB2 mutations and degree of hearing loss: a multicenter study (English)

1 reference

multicenter clinical trial

31 July 2017

main subject

0 references

1 reference

41

Lionel Van Maldergem

0 references

Graça Fialho

Graça Fialho

58

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Umberto Ambrosetti

Umberto Ambrosetti

13

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Ignacio del Castillo

Ignacio del Castillo

33

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Karen Avraham

Karen B Avraham

31

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Andreas Janecke

Andreas R Janecke

17

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Heidi L. Rehm

Heidi L Rehm

23

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Guy Van Camp

Guy Van Camp

64

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Alessandro Martini

Alessandro Martini

54

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Paul Van de Heyning

Paul Van de Heyning

61

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Mustafa Tekin

Mustafa Tekin

24

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Rafał Płoski

9

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Richard J Smith

Richard J H Smith

63

1 reference

ORCID Public Data File 2021

Agnieszka Pollak

8

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ORCID Public Data File 2021

Cor W. R. J. Cremers

46

Cor W R J Cremers

1 reference

31 July 2017

4

Sandrine Marlin

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Małgorzata Mueller-Malesińska

31 July 2017

7

Malgorzata Mueller-Malesinska

1 reference

31 July 2017

15

Jerzy Bal

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31 July 2017

Maria Bitner-Glindzicz

30

Maria Bitner-Glindzicz

1 reference

31 July 2017

5

Françoise Denoyelle

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31 July 2017

Rikkert L Snoeckx

1

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31 July 2017

Patrick L M Huygen

2

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31 July 2017

Delphine Feldmann

3

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31 July 2017

Jaroslaw Waligora

6

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31 July 2017

Agneszka Pollak

8

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31 July 2017

Alessandra Murgia

10

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31 July 2017

Eva Orzan

11

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31 July 2017

Pierangela Castorina

12

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31 July 2017

Ewa Nowakowska-Szyrwinska

14

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31 July 2017

Wojciech Wiszniewski

16

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31 July 2017

Doris Nekahm-Heis

18

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31 July 2017

Pavel Seeman

19

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31 July 2017

Olga Bendova

20

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31 July 2017

Margaret A Kenna

21

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31 July 2017

Anna Frangulov

22

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31 July 2017

Armagan Incesulu

25

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31 July 2017

Hans-Henrik M Dahl

26

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31 July 2017

Desirée du Sart

27

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31 July 2017

Lucy Jenkins

28

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31 July 2017

Deirdre Lucas

29

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31 July 2017

Zippora Brownstein

32

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31 July 2017

Felipe Moreno

34

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31 July 2017

Nikolaus Blin

35

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31 July 2017

Markus Pfister

36

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31 July 2017

Istvan Sziklai

37

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31 July 2017

Timea Toth

38

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31 July 2017

Philip M Kelley

39

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31 July 2017

Edward S Cohn

40

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31 July 2017

Pascale Hilbert

42

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31 July 2017

Anne-Françoise Roux

43

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31 July 2017

Michel Mondain

44

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31 July 2017

Lies H Hoefsloot

45

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31 July 2017

Tuija Löppönen

47

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31 July 2017

Heikki Löppönen

48

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31 July 2017

Agnete Parving

49

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31 July 2017

Karen Gronskov

50

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31 July 2017

Iris Schrijver

51

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31 July 2017

Joseph Roberson

52

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31 July 2017

Francesca Gualandi

53

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31 July 2017

Geneviéve Lina-Granade

55

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31 July 2017

Nathalie Pallares-Ruiz

56

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31 July 2017

Céu Correia

57

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31 July 2017

Kim Cryns

59

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31 July 2017

Nele Hilgert

60

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31 July 2017

Carla J Nishimura

62

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31 July 2017

language of work or name

English

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publication date

19 October 2005

1 reference

American Journal of Human Genetics

31 July 2017

published in

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31 July 2017

volume

77

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31 July 2017

issue

6

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31 July 2017

page(s)

945-957

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Molecular epidemiology of DFNB1 deafness in France

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Modifier genes in mice and humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Prevalent connexin 26 gene (GJB2) mutations in Japanese

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Cx26 deafness: mutation analysis and clinical variability

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Connexin-26 mutations in sporadic and inherited sensorineural deafness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Connections with connexins: the molecular basis of direct intercellular signaling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

The gap junction proteins beta 1-connexin (connexin-32) and beta 2-connexin (connexin-26) can form heteromeric hemichannels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Genetic epidemiology of hearing impairment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Hearing loss: frequency and functional studies of the most common connexin26 alleles.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Connexin 26 studies in patients with sensorineural hearing loss.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Molecular genetics applied to clinical practice: the Cx26 hearing impairment.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

High frequency hearing loss correlated with mutations in the GJB2 gene.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Connexin mutations in deafness.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Connexin 26 gene linked to a dominant deafness

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285178

Exploring hemichannel permeability in vitro

28 October 2018

1 reference

12 December 2020

Connexin 26 Gene Mutations in Congenitally Deaf Children

1 reference

12 December 2020

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome

1 reference

12 December 2020

Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness

1 reference

12 December 2020

Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice

1 reference

12 December 2020

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness

1 reference

12 December 2020

Changing patterns of gap junctional intercellular communication and connexin distribution in mouse epidermis and hair follicles during embryonic development

1 reference

12 December 2020

Identifiers

DOI

10.1086/497996

1 reference

31 July 2017

1 reference

31 July 2017

1 reference