Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss (Q35926006)

11 August 2017

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

1 reference

11 August 2017

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Heidi L Rehm

7

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author name string

Margaret A Kenna

1

1 reference

11 August 2017

Henry A Feldman

2

1 reference

11 August 2017

Marilyn W Neault

3

1 reference

11 August 2017

Anna Frangulov

4

1 reference

11 August 2017

Bai-Lin Wu

5

1 reference

11 August 2017

Brian Fligor

6

1 reference

11 August 2017

1 January 2010

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11 August 2017

1 reference

11 August 2017

136

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11 August 2017

1

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11 August 2017

81-87

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GJB2 mutations and degree of hearing loss: a multicenter study

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

Prevalent connexin 26 gene (GJB2) mutations in Japanese

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

A longitudinal study comparing responses of hearing-impaired infants to pure tones using visual reinforcement and play audiometry.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

Experience with the audiologic assessment of infants and toddlers

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

Late postnatal onset of hearing loss due to GJB2 mutations.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

Connexin 26 studies in patients with sensorineural hearing loss.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

Brief clinical report on visual reinforcement audiometry with deaf infants.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4528189

Genetic testing to identify deaf newborns

14 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20083784

12 December 2020

inferred from PubMed ID database lookup

Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20083784

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20083784

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1001/ARCHOTO.2009.202

1 reference

release_swhbsbsbcrgqthhycsxqfc7mzu

11 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/swhbsbsbcrgqthhycsxqfc7mzu

24 November 2022

mapped directly with Wikidata item

1 reference

11 August 2017

PubMed publication ID

20083784

1 reference