(Q33905363)

29 July 2017

0 references

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study (English)

1 reference

multicenter clinical trial

29 July 2017

main subject

0 references

author

Xavier Estivill i Pallejà

19

1 reference

29 July 2017

Manuela Villamar

15

0 references

Ester Ballana

Ester Ballana

11

0 references

Ignacio del Castillo

Ignacio Del Castillo

1

0 references

Francisco J del Castillo

Francisco J Del Castillo

3

0 references

Wim Wuyts

Wim Wuyts

12

0 references

Karen Avraham

Karen B Avraham

26

0 references

Christine Petit

Christine Petit

27

0 references

Guy Van Camp

Guy Van Camp

25

0 references

Richard J Smith

Richard J H Smith

24

1 reference

ORCID Public Data File 2021

Sandrine Marlin

5

Sandrine Marlin

1 reference

29 July 2017

16

Mordechai Shohat

1 reference

29 July 2017

author name string

Miguel A Moreno-Pelayo

2

1 reference

29 July 2017

Zippora Brownstein

4

1 reference

29 July 2017

Quint Adina

6

1 reference

29 July 2017

David J Cockburn

7

1 reference

29 July 2017

Arti Pandya

8

1 reference

29 July 2017

Kirby R Siemering

9

1 reference

29 July 2017

G Parker Chamberlin

10

1 reference

29 July 2017

Andréa Trevas Maciel-Guerra

13

1 reference

29 July 2017

Araceli Alvarez

14

1 reference

29 July 2017

Dvorah Abeliovich

17

1 reference

29 July 2017

Hans-Henrik M Dahl

18

1 reference

29 July 2017

Paolo Gasparini

20

1 reference

29 July 2017

Tim Hutchin

21

1 reference

29 July 2017

Walter E Nance

22

1 reference

29 July 2017

Edi L Sartorato

23

1 reference

29 July 2017

Felipe Moreno

28

1 reference

29 July 2017

language of work or name

English

0 references

publication date

21 October 2003

1 reference

American Journal of Human Genetics

29 July 2017

published in

1 reference

29 July 2017

volume

73

1 reference

29 July 2017

issue

6

1 reference

29 July 2017

page(s)

1452-1458

1 reference

Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential

29 July 2017

cites work

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

28 July 2018

https://pubmed.ncbi.nlm.nih.gov/14571368

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

Developmental expression patterns of connexin26 and -30 in the rat cochlea

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

Connexins, connexons, and intercellular communication

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

The gap junction communication channel

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

A comprehensive genetic map of the human genome based on 5,264 microsatellites

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

Connexin-30 deletion analysis in connexin-26 heterozygotes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

Molecular genetics of hearing loss

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

Expression of the gap-junction connexins 26 and 30 in the rat cochlea

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

Molecular cloning and functional expression of mouse connexin-30,a gap junction gene highly expressed in adult brain and skin.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180408

29 October 2018

Identifiers

DOI

10.1086/380205

1 reference

29 July 2017

1 reference

29 July 2017

1 reference