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[期刊论文] 作者：Yu Yinhui,Zhang Lei,
来源：中国邮电高校学报（英文版） 年份：2016
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[期刊论文] 作者：Zuowei Zhang,Feng Yu,Yinhui Xi,
来源：材料科学与工程：中英文A版 年份：2011
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[会议论文] 作者：Yu Yinhui,Wu Menghan,Yao Ke,
来源：第八届中国眼科学和视觉科学研究大会 年份：2016
Purpose To identify the pathogenic mutation responsible for autosomal dominan congenital cataract(ADCC)in a Chinese pedigree with bilateral zonular pulverulent cataract and characterize the functional...
Characterization of a CRYBB2 nonsense mutation associated with autosomal dominant congenital catarac
[会议论文] 作者：Yu Yinhui,Wu Menghan,Yao Ke,
来源：第八届中国眼科学和视觉科学研究大会 年份：2016
Purpose We sought to identify the genetic defect in a three-generations of a Chinese family affected with bilateral punctuate congenital cataract and to examine the clinical features in detail.Methods...
[会议论文] 作者：Wu Menghan,Yu Yinhui,Yao Ke,
来源：第八届中国眼科学和视觉科学研究大会 年份：2016
Background Marfans syndrome is an important cause of visual impairment.The most important causative gene of it is FBN1 gene.The study aimed to identify the disease-causing mutation which is responsibl...
[会议论文] 作者：Wu Menghan,Yu Yinhui,Yao Ke,
来源：第八届中国眼科学和视觉科学研究大会 年份：2016
Objective To identify the cataract-causing mutations in a Chinese family and primitively determine themechanism underlying cataracts formation.Methods All patients in this family who participated in t...
A Novel Single-Base Deletional Mutation in Major Intrinsic Protein(MIP)in Autosomal Dominant Catarac
[会议论文] 作者：Yu Yinhui,Wu Menghan,Yao Ke,
来源：第八届中国眼科学和视觉科学研究大会 年份：2016
Purpose To identify the underlying genetic defect and the molecular phenotype in a Chinese family affected with autosomal dominant congenital punctate cataract.Methods Detailed clinical and ophthalmol...
Bilateral Congenital Cataract in Colobomatous Macrophthalmos with Microcornea Syndrome:a case report
[会议论文] 作者：Yu Yinhui,Wu Menghan,Yao Ke,
来源：第八届中国眼科学和视觉科学研究大会 年份：2016
Aim To report a rare case of bilateral congenital cataract in colobomatous macrophthalmos with microcornea syndrome.Methods A 16-year-old female with bilateral congenital cataract was referred to our...
[会议论文] 作者：Wu Menghan,Yu Yinhui,Yao Ke,
来源：第八届中国眼科学和视觉科学研究大会 年份：2016
Aim To identify the mutations associated with congenital cataract in a Chinese family and study the functional effects of the mutant connexin50.Methods Each family member participating in this study u...
A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese fami
[会议论文] 作者：Wu Menghan,Yu Yinhui,Yao Ke,
来源：第八届中国眼科学和视觉科学研究大会 年份：2016
AIM Congenital cataracts are a major cause of visual impairment in children[1,2].The study aimed to identify the disease-causing mutation which is responsible for the presence of congenital cataract i...
Another evidence for an A2V mutation in the CRYBB2gene associated with autosomal dominant congenital
[会议论文] 作者：Yu Yinhui,Wu Menghan,Yao Ke,
来源：第八届中国眼科学和视觉科学研究大会 年份：2016
Purpose To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited posterior subcapsular cataracts.Methods After obtained informed consent,detailed ophthalmic exami...
Identification and functional analysis of a novel connexin 50 mutation associated with autosome domi
[会议论文] 作者：Yu Yinhui,Wu Menghan,Yao Ke,
来源：第八届中国眼科学和视觉科学研究大会 年份：2016
Purpose To identify the potential pathogenic mutation responsible for autosomal dominan congenital cataract(ADCC)in a Chinese pedigree and characterize the functional and cellular consequences of the...
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