(Q50490014)

14 March 2018

title

Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. (English)

1 reference

14 March 2018

1 reference

Kitamura K

1

1 reference

14 March 2018

Takahashi K

2

1 reference

14 March 2018

Noguchi Y

3

1 reference

14 March 2018

Kuroishikawa Y

4

1 reference

14 March 2018

Tamagawa Y

5

1 reference

14 March 2018

Ishikawa K

6

1 reference

14 March 2018

Ichimura K

7

1 reference

14 March 2018

Hagiwara H

8

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14 March 2018

language of work or name

English

0 references

publication date

1 March 2000

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14 March 2018

number of pages

5

1 reference

based on heuristic

inferred from page(s)

published in

Acta Oto-Laryngologica

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14 March 2018

volume

120

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14 March 2018

issue

2

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14 March 2018

page(s)

137-141

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14 March 2018

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

cites work

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

A mutation in PDS causes non-syndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

The large vestibular aqueduct syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

Pendred syndrome--100 years of underascertainment?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

Two frequent missense mutations in Pendred syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

Phenotypic manifestations of branchio-oto-renal syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

The winged helix transcription factor Fkh10 is required for normal development of the inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F000164800750000775

10.1080/000164800750000775

21 January 2018

Identifiers

DOI

1 reference

14 March 2018

release_vo5unmtj3jg67gynfv53sxd2ty

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vo5unmtj3jg67gynfv53sxd2ty

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

11603758

1 reference

14 March 2018