(Q35430913)

8 August 2017

title

Cx26 deafness: mutation analysis and clinical variability (English)

1 reference

8 August 2017

1 reference

A Murgia

1

1 reference

8 August 2017

E Orzan

2

1 reference

8 August 2017

R Polli

3

1 reference

8 August 2017

M Martella

4

1 reference

8 August 2017

C Vinanzi

5

1 reference

8 August 2017

E Leonardi

6

1 reference

8 August 2017

E Arslan

7

1 reference

8 August 2017

F Zacchello

8

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 November 1999

1 reference

Journal of Medical Genetics

8 August 2017

published in

1 reference

8 August 2017

volume

36

1 reference

8 August 2017

issue

11

1 reference

8 August 2017

page(s)

829-832

1 reference

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

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734250

Connexin-26 mutations in sporadic and inherited sensorineural deafness

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734250

Epidemiology of permanent childhood hearing impairment in Trent Region, 1985-1993.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734250

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734250

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734250

Nonsyndromic hearing impairment: unparalleled heterogeneity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734250

Genes responsible for human hereditary deafness: symphony of a thousand

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734250

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734250

Connexin 26 gene linked to a dominant deafness

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734250

Connexin mutations and hearing loss.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734250

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734250

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734250

Connexin 26 gene mutation and autosomal recessive deafness

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10544226

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Connexin-26 mutations in sporadic non-syndromal sensorineural deafness

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10544226

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

1734250

1 reference

8 August 2017

1 reference