A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. (Q41882836)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11483639%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment (English)

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10 November 2019

1 reference

Caroline Van de Heyning

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10 November 2019

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10 November 2019

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10 November 2019

L Van Laer

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10 November 2019

P Coucke

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10 November 2019

R F Mueller

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10 November 2019

G Caethoven

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10 November 2019

K Flothmann

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10 November 2019

S D Prasad

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10 November 2019

G P Chamberlin

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10 November 2019

M Houseman

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10 November 2019

G R Taylor

1 reference

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10 November 2019

E Fransen

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10 November 2019

J Rowland

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10 November 2019

R A Cucci

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10 November 2019

R J Smith

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10 November 2019

language of work or name

English

0 references

publication date

1 August 2001

1 reference

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Journal of Medical Genetics

10 November 2019

published in

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10 November 2019

volume

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10 November 2019

issue

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10 November 2019

page(s)

515-518

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Prevalent connexin 26 gene (GJB2) mutations in Japanese

10 November 2019

cites work

1 reference

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Cx26 deafness: mutation analysis and clinical variability

5 June 2018

1 reference

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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

5 June 2018

1 reference

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

5 June 2018

1 reference

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

5 June 2018

1 reference

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

5 June 2018

1 reference

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A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

5 June 2018

1 reference

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

5 June 2018

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

5 June 2018

1 reference

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Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

5 June 2018

1 reference

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

5 June 2018

1 reference

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The origin of the major cystic fibrosis mutation (delta F508) in European populations.

5 June 2018

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Why is the cystic fibrosis gene so frequent?

5 June 2018

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Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics

5 June 2018

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Genetic epidemiology of hearing impairment

5 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734914

Connexin26 mutations associated with nonsyndromic hearing loss

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734914

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734914

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734914

High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim

18 August 2018

1 reference

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

18 August 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

18 August 2018

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Connexin 26 gene linked to a dominant deafness

18 August 2018

1 reference

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

18 August 2018

1 reference

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

18 August 2018

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Two Different Connexin 26 Mutations in an Inbred Kindred Segregating Non-Syndromic Recessive Deafness: Implications for Genetic Studies in Isolated Populations

18 August 2018

1 reference

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

18 August 2018

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18 August 2018

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

18 August 2018

1 reference

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

3 November 2018

1 reference

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PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11483639

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.38.8.515

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11483639%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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10 November 2019

PubMed publication ID

11483639

1 reference

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