(Q30495323)

13 November 2017

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

1 reference

genotype-phenotype correlation

13 November 2017

1 reference

1 reference

1 reference

6

1 reference

13 November 2017

17

1 reference

13 November 2017

K Cryns

1

1 reference

13 November 2017

E Orzan

2

1 reference

13 November 2017

A Murgia

3

1 reference

13 November 2017

P L M Huygen

4

1 reference

13 November 2017

F Moreno

5

1 reference

13 November 2017

G Parker Chamberlin

7

1 reference

13 November 2017

H Azaiez

8

1 reference

13 November 2017

S Prasad

9

1 reference

13 November 2017

R A Cucci

10

1 reference

13 November 2017

E Leonardi

11

1 reference

13 November 2017

R L Snoeckx

12

1 reference

13 November 2017

P J Govaerts

13

1 reference

13 November 2017

P H Van de Heyning

14

1 reference

13 November 2017

C M Van de Heyning

15

1 reference

13 November 2017

R J H Smith

16

1 reference

13 November 2017

language of work or name

English

0 references

publication date

1 March 2004

1 reference

Journal of Medical Genetics

13 November 2017

1 reference

13 November 2017

41

1 reference

13 November 2017

3

1 reference

13 November 2017

147-154

1 reference

Functional analysis of connexin-26 mutants associated with hereditary recessive deafness

13 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

A Two-stage bipodal screening model for universal neonatal hearing screening

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

Prevalent connexin 26 gene (GJB2) mutations in Japanese

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

Cx26 deafness: mutation analysis and clinical variability

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

Heteromeric gap junction channels in rat hepatocytes in which the expression of connexin26 is induced.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

Connexin-26 mutations in sporadic and inherited 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=1735685

Newborn hearing screening: the great omission

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

Genetic epidemiology of hearing impairment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic 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=1735685

Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

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=1735685

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

Prevalence of GJB2 mutations in prelingual deafness in the Greek population.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural 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=1735685

Connexin 26 studies in patients with sensorineural 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=1735685

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

Molecular basis of childhood deafness resulting from mutations in the GJB2 (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=1735685

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

High frequency hearing loss correlated with mutations in the GJB2 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=1735685

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=1735685

Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

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=1735685

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735685

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=1735685

Connexin 26 gene linked to a dominant 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=1735685

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic 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=1735685

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=1735685

Connexin 26 Gene Mutations in Congenitally Deaf Children

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14985372

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Auditory function and the M34T allele of connexin 26

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14985372

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/14985372

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2003.013896

1 reference

13 November 2017

1 reference

13 November 2017

1 reference