(Q42516614)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

case report

0 references

title

A novel hearing-loss-related mutation occurring in the GJB2 basal promoter (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Tiago Matos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

H. Caria

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Trond Aasen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

David P. Kelsell

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Graça Fialho

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

author name string

H Simões-Teixeira

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

R Nickel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

A O'Neill

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

language of work or name

English

0 references

publication date

27 July 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

2 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

volume

44

1 reference

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2 January 2020

issue

11

1 reference

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2 January 2020

page(s)

721-725

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

Non-syndromic, autosomal-recessive deafness

2 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

Molecular epidemiology of DFNB1 deafness in France

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

Mapping and characterization of the basal promoter of the human connexin26 gene

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

Upstream genomic sequence of the human connexin26 gene

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

Compartmentalized and signal-selective gap junctional coupling in the hearing cochlea.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752183

Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17660464

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/17660464

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2007.050682

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17660464%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

PubMed publication ID

17660464

1 reference