(Q50466201)

14 March 2018

title

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. (English)

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enlarged vestibular aqueduct

main subject

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1 reference

5

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Christine Petit

26

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Didier Lacombe

object named as

Didier Lacombe

22

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Pierre Bitoun

object named as

Pierre Bitoun

25

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author name string

Sébastien Albert

1

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Hélène Blons

2

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Laurence Jonard

3

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Delphine Feldmann

4

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Nathalie Loundon

6

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Annie Sergent-Allaoui

7

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Muriel Houang

8

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Alain Joannard

9

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Sébastien Schmerber

10

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Bruno Delobel

11

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Jacques Leman

12

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Hubert Journel

13

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Hélène Catros

14

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Hélène Dollfus

15

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Marie-Madeleine Eliot

16

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Albert David

17

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Catherine Calais

18

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Valérie Drouin-Garraud

19

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Marie-Françoise Obstoy

20

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Patrice Tran Ba Huy

21

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Françoise Duriez

23

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Christine Francannet

24

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Eréa-Noël Garabédian

27

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Rémy Couderc

28

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Sandrine Marlin

29

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Françoise Denoyelle

30

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publication date

1 June 2006

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European Journal of Human Genetics

published in

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volume

14

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issue

6

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page(s)

773-779

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201611

exact match

0 references

cites work

Genetic epidemiology of hearing impairment

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

A mutation in PDS causes non-syndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

Computed tomography evaluation of the inner ear as a diagnostic, counselling and management strategy in patients with congenital sensorineural hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

Radiological malformations of the ear in Pendred syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

The Pendred syndrome gene encodes a chloride-iodide transport protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

Two frequent missense mutations in Pendred syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

Diagnostic yield of high-resolution computed tomography for pediatric sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201611

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201611

1 reference

14 March 2018

1 reference

14 March 2018