Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. - Wikidata - wikimedia - TriplyDB

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

http://www.wikidata.org/entity/Q34190912

about

Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans.An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.Transcriptional regulation of the pendrin gene.Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China Application of next generation sequencing upon the molecular genetic diagnosis of deafness.Mis-trafficking of bicarbonate transporters: implications to human diseases.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.Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.Genetic characteristics in children with cochlear implants and the corresponding auditory performance.Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

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P2860

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

http://www.wikidata.org/entity/Q34190912

description

2009 nî lūn-bûn

@nan

2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

@ast

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

@en

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

@nl

type

label

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

@ast

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

@en

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

@nl

prefLabel

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

@ast

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

@en

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

@nl

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Genetic Testing and Molecular Biomarkers

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Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians

@en

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Andrew J Griffith

http://www.w3.org/2001/XMLSchema#string

Andrew K Stewart

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Byung Yoon Choi

http://www.w3.org/2001/XMLSchema#string

Chong-Sun Kim

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Jong Woo Chung

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Seth L Alper

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Seung Won Kim

http://www.w3.org/2001/XMLSchema#string

Seung-Ha Oh

http://www.w3.org/2001/XMLSchema#string

Shi-Nae Park

http://www.w3.org/2001/XMLSchema#string

Sun O Chang

http://www.w3.org/2001/XMLSchema#string

P2860

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

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

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

Two frequent missense mutations in Pendred syndrome

Thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channels

Acute regulation of mouse AE2 anion exchanger requires isoform-specific amino acid residues from most of the transmembrane domain

Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.

Genotype-phenotype correlations for SLC26A4-related deafness.

P304

679-687

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scholarly article

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10.1089/GTMB.2009.0054

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5

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13

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Katherine K Nishimura

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2009-10-01T00:00:00Z

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26708187

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19645628

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2953255

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