应用全基因组外显子测序研究具有特定表型的视网膜色素变性的致病基因

81260154
2012
H1305.视网膜、脉络膜及玻璃体相关疾病
盛迅伦
地区科学基金项目
主任医师
宁夏医科大学
50万元
全基因组外显子测序;基因突变;临床表型;视网膜色素变性
2013-01-01到2016-12-31
  • 中英文摘要
  • 结题摘要
  • 结题报告
  • 项目成果
  • 项目参与人
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序号 标题 类型 作者
1 宁夏地区重大遗传性眼病发病机制的分子遗传学及早期干预策略研究 奖励 庄文娟|刘雅妮|朱金燕|张芳霞|
2 应用外显子&目标区域捕获测序芯片检测视网膜色素变性的致病基因 期刊论文 陈雪娟|李慧平|刘雅妮|盛迅伦|
3 散发型视网膜色素变性致病基因及其 遗传方式观察 期刊论文 郭慧|盛迅伦|
4 Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2 期刊论文 Liu, Wenzhou|Kang, Xiaoli|Sheng, Xunlun|Zhao, Chen|
5 GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity 期刊论文 Zili Li|Qingshun Zhao|Biao Yan|Chen Zhao|
6 CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability 期刊论文 Liu, Yani|Rong, Weining|Hattori, Seisuke|Iwata, Takeshi|
7 Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa. 期刊论文 Liu, Yani|Rong, Weining|Zhao, Kanxing|Zhao, Chen|
8 PRPF4 mutations cause autosomal dominant retinitis pigmentosa 期刊论文 Zhao, Qingshun|Vollrath, Douglas|Pang, Chi Pui|Zhao, Chen|
9 Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy 期刊论文 Liu, Yani|Liu, Wenzhou|Li, Zili|Zhao, Chen|
10 Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis 期刊论文 Liu, Wenzhou|Kang, Xiaoli|Zhao, Kanxing|Zhao, Chen|
11 Whole exome sequencing confirms the clinical diagnosis of Marfan syndromecombined with X？linked hypophosphatemia 期刊论文 Yani Liu|Feng Zhao|Peizeng Yang|Chen Zhao|
12 CEP78 is mutated in a distinct type of Usher syndrome 期刊论文 Yumei Li|Chen Zhao|Ruifang Sui|Rui Chen|
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