Exploring the clinical and epidemiological complexity of GJB2-linked deafness. (Q50486487)

14 March 2018

title

Exploring the clinical and epidemiological complexity of GJB2-linked deafness. (English)

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A Martini

13

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author name string

F Gualandi

1

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A Ravani

2

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A Berto

3

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A Sensi

4

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C Trabanelli

5

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F Falciano

6

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P Trevisi

7

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M Mazzoli

8

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M G Tibiletti

9

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E Cristofari

10

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S Burdo

11

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A Ferlini

12

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E Calzolari

14

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publication date

1 September 2002

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American Journal of Medical Genetics Part A

published in

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volume

112

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issue

1

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page(s)

38-45

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Connections with connexins: the molecular basis of direct intercellular signaling

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10621

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

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A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

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Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

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https://api.crossref.org/works/10.1002%2FAJMG.10621

Connexin-26 mutations in sporadic and inherited sensorineural deafness

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https://api.crossref.org/works/10.1002%2FAJMG.10621

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

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https://api.crossref.org/works/10.1002%2FAJMG.10621

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

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https://api.crossref.org/works/10.1002%2FAJMG.10621

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

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Human diseases: clues to cracking the connexin code?

21 January 2018

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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

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Gap junctions are involved in the early generation of left-right asymmetry

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

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Sensorineural hearing loss and prematurity

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Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation.

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

21 January 2018

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Diverse functions of vertebrate gap junctions

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The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

21 January 2018

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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

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

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

21 January 2018

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Identifiers

DOI

10.1002/AJMG.10621

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14 March 2018

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