(Q37692146)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20154630%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Connexin-26-associated deafness: phenotypic variability and progression of hearing loss (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20154630%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20154630%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Dylan K Chan

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20154630%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Iris Schrijver

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20154630%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

language of work or name

English

0 references

publication date

1 March 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20154630%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20154630%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20154630%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20154630%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

174-181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20154630%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181d0d42b

18 January 2020

exact match

0 references

cites work

Universal infant hearing screening by automated auditory brainstem response measurement.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

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%2FGIM.0B013E3181D0D42B

GJB2 mutations and degree of hearing loss: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

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%2FGIM.0B013E3181D0D42B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

Large deletion of theGJB6gene in deaf patients heterozygous for theGJB2gene mutation: Genotypic and phenotypic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

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%2FGIM.0B013E3181D0D42B

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

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/10.1097%2FGIM.0B013E3181D0D42B

Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D42B

10.1097/GIM.0B013E3181D0D42B

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20154630%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

18 January 2020

1009551223

0 references

1 reference