Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings
about
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing lossHomozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairmentA 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 hypothesisGenetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutationsScreening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technologyStrong 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 TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?A case of pancreatic neuroendocrine tumor in a patient with neurofibromatosis-1The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from PakistanNovel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.Renal artery stenosis due to neurofibromatosis type 1: case report and literature review.Neurofibromatosis Clinic: A Report on Patient Demographics and Evaluation of the Clinic.A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.
P2860
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P2860
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Autosomal recessive postlingua ...... 3 mutations in German siblings
@ast
Autosomal recessive postlingua ...... 3 mutations in German siblings
@en
Autosomal recessive postlingua ...... 3 mutations in German siblings
@nl
type
label
Autosomal recessive postlingua ...... 3 mutations in German siblings
@ast
Autosomal recessive postlingua ...... 3 mutations in German siblings
@en
Autosomal recessive postlingua ...... 3 mutations in German siblings
@nl
prefLabel
Autosomal recessive postlingua ...... 3 mutations in German siblings
@ast
Autosomal recessive postlingua ...... 3 mutations in German siblings
@en
Autosomal recessive postlingua ...... 3 mutations in German siblings
@nl
P2093
P2860
P356
P1476
Autosomal recessive postlingua ...... 3 mutations in German siblings
@en
P2093
Christian Thürmer
Jonas Park
Martin Westhofen
Miriam Elbracht
Thomas Eggermann
P2860
P356
10.1136/JMG.2007.049122
P407
P577
2007-06-01T00:00:00Z