A systematic review and meta-analysis of 235delC mutation of GJB2 gene (Q36235919)

12 August 2017

4 references

20 June 2019

30 June 2019

14 September 2019

15 December 2019

0 references

A systematic review and meta-analysis of 235delC mutation of GJB2 gene (English)

1 reference

12 August 2017

1 reference

14 September 2019

1 reference

15 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22747691

5 January 2025

author name string

Jun Yao

1

1 reference

12 August 2017

Yajie Lu

2

1 reference

12 August 2017

Qinjun Wei

3

1 reference

12 August 2017

Xin Cao

4

1 reference

12 August 2017

Guangqian Xing

5

1 reference

12 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22747691

5 January 2025

publication date

2 July 2012

5 references

full work available at URL

12 August 2017

20 June 2019

30 June 2019

14 September 2019

15 December 2019

https://translational-medicine.biomedcentral.com/counter/pdf/10.1186/1479-5876-10-136

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22747691

https://europepmc.org/articles/PMC3443034

5 January 2025

file format

HyperText Markup Language

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22747691

https://europepmc.org/articles/PMC3443034?pdf=render

5 January 2025

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22747691

https://link.springer.com/content/pdf/10.1186/1479-5876-10-136.pdf

5 January 2025

1 reference

10.1186/1479-5876-10-136

https://api.crossref.org/works/10.1186/1479-5876-10-136

Journal of Translational Medicine

5 January 2025

published in

5 references

12 August 2017

20 June 2019

30 June 2019

14 September 2019

15 December 2019

10

1 reference

12 August 2017

136

1 reference

Creative Commons Attribution 2.0 Generic

12 August 2017

4 references

20 June 2019

30 June 2019

14 September 2019

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf

15 December 2019

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

GJB2 mutations and degree of hearing loss: a multicenter study

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

First molecular screening of deafness in the Altai Republic population

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

Prevalent connexin 26 gene (GJB2) mutations in Japanese

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians

29 June 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

A method for meta-analysis of molecular association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

Connexin26 mutations associated with nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

Infant hearing loss and connexin testing in a diverse population

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

Connexin26 gene ( GJB2): prevalence of mutations in the Chinese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

GJB2 and mitochondrial DNA 1555A > G mutations in students with hearing loss in the Hubei Province of China

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-10-136

GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

GJB2 (connexin 26) gene mutation screen in patients with nonsydromic hearing loss in Hunan

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

Coincidence of mutations in different connexin genes in Hungarian patients.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

Mutations inGJB2,GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443034

Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness

5 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22747691

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22747691

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/22747691

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1479-5876-10-136

1 reference

Dimensions Publication ID

12 August 2017

0 references

1 reference

12 August 2017

1 reference