(Q44405356)

2 December 2017

title

Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1. (English)

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2 December 2017

6

Cor W R J Cremers

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2 December 2017

5

Hannie Kremer

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2 December 2017

3

Rob W J Collin

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2 December 2017

4

Jaap Oostrik

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2 December 2017

2

Patrick L M Huygen

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2 December 2017

Anne-Martine R de Heer

series ordinal

1

object named as

Anne-Martine R de Heer

1 reference

2 December 2017

publication date

1 May 2009

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Annals of Otology Rhinology and Laryngology

2 December 2017

number of pages

9

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based on heuristic

inferred from page(s)

published in

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2 December 2017

volume

118

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2 December 2017

issue

5

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2 December 2017

page(s)

382-390

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A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25.

2 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

Audiologic aspects of the search for DFNA20: a gene causing late-onset, progressive, sensorineural hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

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%2F000348940911800511

Oculomotor, auditory, and vestibular responses in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

Cochleovestibular and ocular features in a Dutch DFNA11 family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

Hereditary Progressive Perceptive Deafness in a Family of 72 Patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000348940911800511

10.1177/000348940911800511

21 January 2018

Identifiers

DOI

0 references

1 reference