Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study. (Q30462691)

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9 February 2020

title

Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study (English)

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9 February 2020

1

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9 February 2020

Maria Bitner-Glindzicz

5

object named as

Maria Bitner-Glindzicz

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9 February 2020

author name string

Marcus Pembrey

2

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9 February 2020

Mark Lutman

3

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9 February 2020

Colin Steer

4

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9 February 2020

publication date

31 July 2012

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9 February 2020

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9 February 2020

volume

2

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9 February 2020

issue

4

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Cohort profile: the 'children of the 90s'—the index offspring of the Avon Longitudinal Study of Parents and Children

9 February 2020

cites work

1 reference

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Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss

20 June 2018

1 reference

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Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency

20 June 2018

1 reference

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Attrition in longitudinal studies: who do you lose?

20 June 2018

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Pathogenetic role of the deafness-related M34T mutation of Cx26.

20 June 2018

1 reference

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GJB2 mutations and degree of hearing loss: a multicenter study

20 June 2018

1 reference

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Changes in otoacoustic emissions and high-frequency hearing thresholds in children and adolescents

20 June 2018

1 reference

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Genetic analysis of the connexin-26 M34T variant

20 June 2018

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ALSPAC--the Avon Longitudinal Study of Parents and Children. I. Study methodology

20 June 2018

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

20 June 2018

1 reference

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A new human genetic resource: a DNA bank established as part of the Avon longitudinal study of pregnancy and childhood (ALSPAC).

20 June 2018

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Gap junction systems in the mammalian cochlea

20 June 2018

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

20 June 2018

1 reference

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

20 June 2018

1 reference

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

Audiometric evaluation of carriers of the connexin 26 mutation 35delG.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

A longitudinal study of changes in evoked otoacoustic emissions and pure-tone thresholds as measured in a hearing conservation program

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

The effects of high-frequency hearing loss on low-frequency components of the click-evoked otoacoustic emission

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

Otoacoustic emissions and brainstem evoked potentials in compound carriers of connexin 26 mutations

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

The effects of a connexin 26 mutation--35delG--on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriers

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

The M34T allele variant of connexin 26.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

Connexin mutations in deafness

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

Click-evoked otoacoustic emissions and the influence of high-frequency hearing losses in humans

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449272

Auditory function and the M34T allele of connexin 26

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22855627

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22855627

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22855627

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/BMJOPEN-2012-001238

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855627%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855627%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

22855627

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855627%20AND%20SRC:MED&resulttype=core&format=json