Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family. (Q50488412)

14 March 2018

title

Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family. (English)

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14 March 2018

author name string

Els M R De Leenheer

1

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14 March 2018

Patrick L M Huygen

2

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14 March 2018

Paul J Coucke

3

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14 March 2018

Ronald J C Admiraal

4

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14 March 2018

G van Camp

5

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14 March 2018

Cor W Cremers

6

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14 March 2018

publication date

1 March 2002

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14 March 2018

Annals of Otology Rhinology and Laryngology

number of pages

8

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based on heuristic

inferred from page(s)

published in

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14 March 2018

volume

111

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14 March 2018

issue

3 Pt 1

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14 March 2018

page(s)

267-274

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14 March 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1177%2F000348940211100312

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/10.1177%2F000348940211100312

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/10.1177%2F000348940211100312

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/10.1177%2F000348940211100312

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940211100312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940211100312

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/10.1177%2F000348940211100312

Nystagmometry: the Art of Measuring Nystagmus Parameters by Digital Signal Processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940211100312

Nonsyndromic autosomal dominant progressive sensorineural hearing loss: audiologic analysis of a pedigree linked to DFNA2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940211100312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940211100312

Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940211100312

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940211100312

How well do we understand the cochlea?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940211100312

10.1177/000348940211100312

21 January 2018

Identifiers

DOI

1 reference

14 March 2018

release_5s3tckood5hjnbpdmxyduwxfo4

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5s3tckood5hjnbpdmxyduwxfo4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

11915881

1 reference

14 March 2018