(Q33912298)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925378%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region (English)

1 reference

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9 November 2019

1 reference

6

1 reference

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9 November 2019

author name string

P Van Hauwe

1

1 reference

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9 November 2019

P J Coucke

2

1 reference

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9 November 2019

R J Ensink

3

1 reference

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9 November 2019

P Huygen

4

1 reference

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9 November 2019

C W Cremers

5

1 reference

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9 November 2019

publication date

1 July 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925378%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

9 November 2019

published in

1 reference

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9 November 2019

volume

93

1 reference

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9 November 2019

issue

3

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9 November 2019

page(s)

184-187

1 reference

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Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

A mutation in PDS causes non-syndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Genetic epidemiology of hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Deafness linked to DFNA2: one locus but how many genes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Nonsyndromic hearing impairment is associated with a mutation in DFNA5

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C184%3A%3AAID-AJMG4%3E3.0.CO%3B2-5

10.1002/1096-8628(20000731)93:3<184::AID-AJMG4>3.0.CO;2-5

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925378%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference