Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes - Wikidata - wikimedia - TriplyDB

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

http://www.wikidata.org/entity/Q34137666

about

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.Engineered pendrin protein, an anion transporter and molecular motor.Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct.Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes.Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

P2860

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P2860

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

http://www.wikidata.org/entity/Q34137666

description

2009 nî lūn-bûn

@nan

2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հուլիսին հրատարակված գիտական հոդված

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2009年の論文

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2009年学术文章

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2009年学术文章

@zh-cn

2009年学术文章

@zh-hans

2009年学术文章

@zh-my

2009年学术文章

@zh-sg

2009年學術文章

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name

Segregation of enlarged vestib ...... n-diagnostic SLC26A4 genotypes

@ast

Segregation of enlarged vestib ...... n-diagnostic SLC26A4 genotypes

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Segregation of enlarged vestib ...... n-diagnostic SLC26A4 genotypes

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type

label

Segregation of enlarged vestib ...... n-diagnostic SLC26A4 genotypes

@ast

Segregation of enlarged vestib ...... n-diagnostic SLC26A4 genotypes

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Segregation of enlarged vestib ...... n-diagnostic SLC26A4 genotypes

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prefLabel

Segregation of enlarged vestib ...... n-diagnostic SLC26A4 genotypes

@ast

Segregation of enlarged vestib ...... n-diagnostic SLC26A4 genotypes

@en

Segregation of enlarged vestib ...... n-diagnostic SLC26A4 genotypes

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JMG.2009.067892

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Journal of Medical Genetics

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Segregation of enlarged vestib ...... n-diagnostic SLC26A4 genotypes

@en

P2093

A C Madeo

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A J Griffith

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B Y Choi

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C C Brewer

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C K Zalewski

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J A Butman

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J A Muskett

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K A King

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S P Pryor

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W E Nance

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P2860

The Pendred syndrome gene encodes a chloride-iodide transport protein

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

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

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

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

A mutation in PDS causes non-syndromic recessive deafness

Molecular analysis of the PDS gene in Pendred syndrome

Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.

Genotype-phenotype correlations for SLC26A4-related deafness.

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

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856-861

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scholarly article

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10.1136/JMG.2009.067892

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12

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46

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2009-07-02T00:00:00Z

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26647958

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19578036

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2941511

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