Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.
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Autosomal recessive nonsyndromic deafness genes: a reviewLoss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like diseaseConnexin 26 mutations in autosomal recessive deafness disorders: a reviewGJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing LossAn effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approachThe p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment.Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicityResidual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.Connexinopathies: a structural and functional glimpseCarrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese populationHereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis.Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.The responsible genes in Japanese deafness patients and clinical application using Invader assay.A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.Connexin-26 mutations in deafness and skin disease.GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province.Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.A large cohort study of GJB2 mutations in Japanese hearing loss patients.Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form.Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations
P2860
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P2860
Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Clinical features of patients ...... d protein expression patterns.
@en
Clinical features of patients with GJB2
@nl
type
label
Clinical features of patients ...... d protein expression patterns.
@en
Clinical features of patients with GJB2
@nl
prefLabel
Clinical features of patients ...... d protein expression patterns.
@en
Clinical features of patients with GJB2
@nl
P2093
P1476
Clinical features of patients ...... d protein expression patterns.
@en
P2093
Aki Oshima
Akihiro Ohtsuka
Kyoko Nagai
Satoko Abe
Satoshi Iwasaki
Shigenari Hashimoto
Shin-ichi Usami
Takashi Nakagawa
Tatsuo Matsunaga
Tomohiro Oguchi
P2888
P356
10.1007/S10038-004-0223-7
P577
2005-02-08T00:00:00Z