(Q46850447)

25 December 2017

title

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss (English)

1 reference

25 December 2017

1 reference

1 reference

Yoshihiro Noguchi

1

1 reference

25 December 2017

Takatoshi Yashima

2

1 reference

25 December 2017

Akio Hatanaka

3

1 reference

25 December 2017

Masamichi Uzawa

4

1 reference

25 December 2017

Michio Yasunami

5

1 reference

25 December 2017

Akinori Kimura

6

1 reference

25 December 2017

Ken Kitamura

7

1 reference

25 December 2017

language of work or name

English

0 references

publication date

1 November 2005

1 reference

25 December 2017

published in

Acta Oto-Laryngologica

1 reference

25 December 2017

volume

125

1 reference

25 December 2017

issue

11

1 reference

25 December 2017

page(s)

1189-1194

1 reference

25 December 2017

A genetic approach to understanding auditory function

cites work

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

Human Nonsyndromic Sensorineural Deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

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/10.1080%2F00016480510044232

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

DFNA54, a third locus for low-frequency hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

Connexin26 mutations associated with nonsyndromic hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

Mutations in the Wolfram Syndrome Type 1 Gene (WFS1) Define a Clinical Entity of Dominant Low-Frequency Sensorineural Hearing Loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

Further evidence for linkage of low-mid frequency hearing impairment to the candidate region on chromosome 4p16.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480510044232

10.1080/00016480510044232

21 January 2018

Identifiers

DOI

1 reference

25 December 2017

1 reference

25 December 2017