Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations - Wikidata - wikimedia - TriplyDB

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

http://www.wikidata.org/entity/Q35544452

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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.A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.Genetic investigations in childhood deafness.Republished: Genetic investigations in childhood deafness.Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference.Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review.A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.Genetic causes of moderate to severe hearing loss point to modifiers.Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function

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Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

http://www.wikidata.org/entity/Q35544452

description

2011 nî lūn-bûn

@nan

2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2011年の論文

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2011年論文

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2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

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name

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

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Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

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type

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Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

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Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

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Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

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Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

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Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

@en

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Cor W R J Cremers

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Hannie Kremer

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Henricus P M Kunst

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Jaap Oostrik

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Lies H Hoefsloot

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Margit Schraders

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Mariet Elting

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Nicole J D Weegerink

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Patrick L M Huygen

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Ronald J C Admiraal

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P2860

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3

Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

WHAT IF: a molecular modeling and drug design program

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6

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12

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Hanka Venselaar

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