GDF6基因突变导致多发性骨性连接综合征的致病机制研究

81472051
2014
H06.运动系统
王剑
面上项目
研究员
上海交通大学
72万元
致病机制;GDF6基因;基金突变;多发性骨性连接综合征
2015-01-01到2018-12-31
  • 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 New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal 期刊论文 Wang Jian;Yu Tingting;Wang Zhigang;Ohte Satoshi;Yao Ru-en;Zheng Zhaojing;Geng Juan;Cai Haiqing;Ge Yihua;Li Yuchan;Xu Yunlan;Zhang Qinghua;Gusella James F.;Fu Qihua;Pregizer Steven;Rosen Vicki;Shen Yiping
2 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development 期刊论文 Chen Yulin;Xu Yufei;Li Guoqiang;Li Niu;Yu Tingting;Yao Ru-en;Wang Xiumin;Shen Yiping;Wang Jian
3 Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience 期刊论文 Hu Xuyun;Li Niu;Xu Yufei;Li Guoqiang;Yu Tingting;Yao Ru-en;Fu Lijun;Wang Jiwen;Yin Lei;Yin Yong;Wang Ying;Jin Xingming;Wang Xiumin;Wang Jian;Shen Yiping
4 De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome 期刊论文 Li Guoqiang;Li Niu;Li Juan;Ding Yu;Yu Tingting;Wang Xiumin;Wang Jian
5 Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis 期刊论文 Xu Yufei;Sun Shouqing;Li Niu;Yu Tingting;Wang Xiumin;Wang Jian;Bao Nan
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