视网膜色素变性大家系致病新基因的克隆鉴定及功能研究

31701087
2017
C0604.表型、行为与疾病的遗传学基础
成竞梁
青年科学基金项目
助理研究员
西南医科大学
25万元
单基因疾病;视网膜色素变性;生物信息分析;汉族;致病基因
2018-01-01到2020-12-31
  • 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 A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis. 期刊论文 Fu Jiewen;Ma Lu;Cheng Jingliang;Yang Lisha;Wei Chunli;Fu Shangyi;Lv Hongbin;Chen Rui;Fu Junjiang
2 Evaluation genotypes of cancer cell lines HCC1954 and SiHa by short tandem repeat (STR) analysis and DNA sequencing. 期刊论文 Fu Jiewen;Cheng Jingliang;Liu Xiaoyan;Li Jun;Wei Chunli;Zheng Xiaoli;He Tao;Fu Junjiang
3 Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia. 期刊论文 Yang Lisha;Ijaz Iqra;Cheng Jingliang;Wei Chunli;Tan Xiaojun;Khan Md Asaduzzaman;Fu Xiaodong;Fu Junjiang
4 Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant 期刊论文 Huang Junting;Fu Jiewen;Fu Shangyi;Yang Lisha;Nie Kailai;Duan Chengxia;Cheng Jingliang;Li Yumei;Lv Hongbin;Chen Rui;Liu Longqian;Fu Junjiang
5 Roles of MicroRNA-34a in Epithelial to Mesenchymal Transition, Competing Endogenous RNA Sponging and Its Therapeutic Potential 期刊论文 Nie Dongsong;Fu Jiewen;Chen Hanchun;Cheng Jingliang;Fu Junjiang
6 A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree 期刊论文 Cheng J;Fu J;Zhou Q;Xiang X;Wei C;Yang L;Fu S;Khan MA;Lv H;Fu J
7 Novel splicing variant c. 208+2T > C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing 期刊论文 Imani Saber;Cheng Jingliang;Fu Jiewen;Mobasher-Jannat Abdolkarim;Wei Chunli;Mohazzab-Torabi Saman;Jadidi Khosrow;Khosravi Mohammad Hossein;Shasaltaneh Marzieh Dehghan;Yang Lisha;Khan Md. Asaduzzaman;Fu Junjiang
8 Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient 期刊论文 Zhang Lianmei;Cheng Jingliang;Zhou Qi;Khan Md. Asaduzzaman;Fu Jiewen;Duan Chengxia;Sun Suan;Lv Hongbin;Fu Junjiang
9 A Novel Variant of the FZD4 Gene in a Chinese Family Causes Autosomal Dominant Familial Exudative Vitreoretinopathy 期刊论文 Yang L;Fu J;Cheng J;Wei C;Zhou Q;Ijaz I;Lv H;Fu J
10 . Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree 期刊论文 Wei C;Xiao T;Cheng J;Fu J;Zhou Q;Yang L;Lv H;Fu J
11 A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing 期刊论文 Wei Chunli;Yang Lisha;Cheng Jingliang;Imani Saber;Fu Shangyi;Lv Hongbin;Li Yumei;Chen Rui;Leung Elaine Lai-Han;Fu Junjiang
12 Identification of a novel germline BRCA2 variant in a Chinese breast cancer family 期刊论文 Cheng Jingliang;Peng Jiangzhou;Fu Jiewen;Khan Md. Asaduzzaman;Tan Pingping;Wei Chunli;Deng Xiyun;Chen Hanchun;Fu Junjiang
13 A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family 期刊论文 Jiewen Fu;Shiyi Shen;Jingliang Cheng;Hongbin Lv;Junjiang Fu
14 Novel compound heterozygous nonsense variants, p.L150 and p.Y3565, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA 期刊论文 Fu J;Cheng J;Zhou Q;Khan MA;Duan C;Peng J;Lv H;Fu J
15 A novel missense variant c.G644A (p.G215E) of the RPGR gene in a Chinese family causes X-linked retinitis pigmentosa 期刊论文 Fu J;Cheng J;Zhou Q;Wei C;Chen H;Lv H;Fu J
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