Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
about
Clinical and genetic investigation of families with type II Waardenburg syndrome.Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndromeGenetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in ChinaVariations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing LossSpectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.Hearing loss in Waardenburg syndrome: a systematic review.Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.Identification of rare paired box 3 variant in strabismus by whole exome sequencing.Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
P2860
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P2860
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Novel mutations of PAX3, MITF, ...... type II Waardenburg syndrome.
@en
Novel mutations of PAX3, MITF, ...... type II Waardenburg syndrome.
@nl
type
label
Novel mutations of PAX3, MITF, ...... type II Waardenburg syndrome.
@en
Novel mutations of PAX3, MITF, ...... type II Waardenburg syndrome.
@nl
prefLabel
Novel mutations of PAX3, MITF, ...... type II Waardenburg syndrome.
@en
Novel mutations of PAX3, MITF, ...... type II Waardenburg syndrome.
@nl
P2093
P1476
Novel mutations of PAX3, MITF, ...... type II Waardenburg syndrome.
@en
P2093
Chufeng He
Hongsheng Chen
Lingyun Mei
Zhengmao Hu
Zhiguo Xie
P356
10.1016/J.BBRC.2010.05.066
P407
P577
2010-05-15T00:00:00Z