(Q34661803)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17690912%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

Genotype-phenotype correlations for SLC26A4-related deafness (English)

1 reference

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3 January 2020

1 reference

1 reference

7

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3 January 2020

author name string

Hela Azaiez

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17690912%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Tao Yang

2

1 reference

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3 January 2020

Sai Prasad

3

1 reference

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3 January 2020

Jessica L Sorensen

4

1 reference

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3 January 2020

Carla J Nishimura

5

1 reference

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3 January 2020

William J Kimberling

6

1 reference

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3 January 2020

publication date

10 August 2007

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3 January 2020

1 reference

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3 January 2020

volume

122

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3 January 2020

issue

5

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3 January 2020

page(s)

451-457

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ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE (PENDRED'S SYNDROME) A STUDY OF 207 FAMILIES.

3 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-007-0415-2

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

21 January 2018

1 reference

12 December 2020

The Large Vestibular Aqueduct Syndrome

1 reference

12 December 2020

Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders.

1 reference

12 December 2020

The Pendred syndrome gene encodes a chloride-iodide transport protein

1 reference

12 December 2020

Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic

1 reference

12 December 2020

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

1 reference

12 December 2020

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

1 reference

12 December 2020

[Otitis media with effusion]

1 reference

12 December 2020

Two frequent missense mutations in Pendred syndrome

1 reference

12 December 2020

Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene

1 reference

12 December 2020

Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

Sensorineural hearing loss in children.

1 reference

12 December 2020

The large vestibular aqueduct syndrome

1 reference

12 December 2020

Temporal bone imaging in GJB2 deafness.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Pendred syndrome--100 years of underascertainment?

1 reference

12 December 2020

Vestibular-evoked myogenic potentials in three patients with large vestibular aqueduct.

1 reference

12 December 2020

Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

1 reference

12 December 2020

In Reference toTemporal Bone Imaging inGJB2Deafness

1 reference

12 December 2020

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.

1 reference

12 December 2020

Molecular analysis of the PDS gene in Pendred syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

1 reference

12 December 2020

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

1 reference

12 December 2020

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

1 reference

12 December 2020

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

1 reference

12 December 2020

In reference to temporal bone imaging in GJB2 deafness.

1 reference

12 December 2020

10.1007/S00439-007-0415-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17690912%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 January 2020

1051651186

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Fatcat ID

release_xugwhgkbg5g47e4bhhtfedqvlq

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Fatcat

https://api.fatcat.wiki/v0/release/xugwhgkbg5g47e4bhhtfedqvlq

24 November 2022

mapped directly with Wikidata item

1 reference