Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands (Q28187639)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

6

Thomas B Friedman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

Arti Pandya

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Kathleen S Arnos

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Xia J Xia

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Katherine O Welch

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Susan H Blanton

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Guillermina Garcia Sanchez

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Xiu Z Liu MD

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Walter E Nance

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

language of work or name

English

0 references

publication date

1 July 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

295-303

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

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

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Genetic epidemiology of hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Genetic causes of hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Perspectives: biomedicine. The benefits of recycling

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Connexin-26 mutations in sporadic and inherited sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Nonsyndromic hearing loss: an analysis of audiograms

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Connexin26 mutations associated with nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

The M34T allele variant of connexin 26.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

Connexin mutations in deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078026.01140.68

10.1097/01.GIM.0000078026.01140.68

21 January 2018

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12865758%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017