基于下一代测序技术鉴定遗传性先天性面神经麻痹的致病基因
81600850
2016
H1501.口腔颅颌面组织器官生长发育相关疾病
岑志栋
青年科学基金项目
医师
浙江大学
17万元
全基因组测序;遗传性先天性面神经麻痹;全基因组扫描;下一代测序;致病基因
2017-01-01到2019-12-31
- 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 | Dramatic response to pyridoxine in a girl with absence epilepsy with ataxia caused by a de novo CACNA1A mutation | 期刊论文 | Xiaoping Du;Chen You;Yongxiong Zhao;Wei Luo;Zhidong Cen;Weicheng Hao |
| 2 | A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia | 期刊论文 | You Chen;Zhidong Cen;Xiaosheng Zheng;Fei Xie;Si Chen;Wei Luo |
| 3 | LRP10 in autosomal-dominant Parkinson's disease | 期刊论文 | You Chen;Zhidong Cen;Xiaosheng Zheng;Qinqing Pan;Xinhui Chen;Lili Zhu;Si Chen;Hongwei Wu;Fei Xie;Haotian Wang;Dehao Yang;Lebo Wang;Baorong Zhang;Wei Luo |
| 4 | De novo mutation in DEPDC5 associated with unilateral pachygyria and intractable epilepsy | 期刊论文 | Zhidong Cen;Yufan Guo;Yuting Lou;Jianda Wang;Biao Jiang;Jianhua Feng |
| 5 | Evaluation of MYORG mutations as a novel cause of primary familial brain calcification | 期刊论文 | You Chen;Feng Fu;Si Chen;Zhidong Cen;Haiyan Tang;Jinxiu Huang;Fei Xie;Xiaosheng Zheng;Dehao Yang;Haotian Wang;Xuerong Huang;Yun Zhang;Yongji Zhou;Jing-Yu Liu;Wei Luo |
| 6 | Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification | 期刊论文 | Zhidong Cen;You Chen;Si Chen;Hong Wang;Dehao Yang;Hongmei Zhang;Hongwei Wu;Lebo Wang;Siyang Tang;Jia Ye;Jian Shen;Haotian Wang;Feng Fu;Xinhui Chen;Fei Xie;Peng Liu;Xuan Xu;Jianzhi Cao;Pan Cai;Qinqing Pan;Jieying Li;Wei Yang;Pengfei Shan;Yuezhou Li;Jingyu Liu;Baorong Zhang;Wei Luo |
| 7 | Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1 | 期刊论文 | Zhidong Cen;Zhengwen Jiang;You Chen;Xiaosheng Zheng;Fei Xie;Xiaodong Yang;Xingjiao Lu;Zhiyuan Ouyang;Hongwei Wu;Si Chen;Houmin Yin;Xia Qiu;Shuang Wang;Meiping Ding;Yelei Tang;Feng Yu;Caihua Li;Tao Wang;Hiroyuki Ishiura;Shoji Tsuji;Chuan Jiao;Chunyu Liu;Jianfeng Xiao;Wei Luo |
| 8 | Q1OR mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus | 期刊论文 | Zhidong Cen;Yuting Lou;Yufan Guo;Jianda Wang;Jianhua Feng |
| 9 | A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease | 期刊论文 | Fei Xie;Si Chen;Zhidong Cen;You Chen;Dehao Yang;Haotian Wang;Baorong Zhang;Wei Luo |
| 10 | Intronic (TTTGA)(n) insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy | 期刊论文 | Zhidong Cen;You Chen;Dehao Yang;Qingchen Zhu;Si Chen;Xinhui Chen;Bo Wang;Fei Xie;Zhiyuan Ouyang;Zhengwen Jiang;Aisi Fu;Ben Hu;Houmin Yin;Xia Qiu;Feng Yu;Xiaoping Du;Weicheng Hao;Yuxi Liu;Haotian Wang;Lebo Wang;Xiafei Yu;Yichuan Xiao;Chunyu Liu;Jianfeng Xiao;Yongxing Zhou;Wei Yang;Baorong Zhang;Wei Luo |
| 11 | Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China | 期刊论文 | Si Chen;Zhidong Cen;Feng Fu;You Chen;Xinhui Chen;Dehao Yang;Haotian Wang;Hongwei Wu;Xiaosheng Zheng;Fei Xie;Zhiyuan Ouyang;Weiguo Tang;Shuhong Zhang;Lili Yin;Yunqian Zhang;Peiying Meng;Xuzhen Zhu;Hongwei Zhang;Feifei Jiang;Kaiyu Zhang;Juping He;Danhong Zhang;Hanqiao Ming;Daqiao Song;Zhiping Zhou;Yong Luo;Qun Gu;Yongkun Su;Xinxiao Wu;Haiyan Tang;Chenglong Wu;Weiqing Chen;Jing Yu Liu;Wei Luo;Huang Xuerong... |
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