TBXAS1基因导致遗传性多发性骨软骨瘤的致病机制研究
81601869
2016
H06.运动系统
李牛
青年科学基金项目
副研究员
上海交通大学
17万元
细胞分化;血栓素A合成酶;致病机制;遗传性多发性骨软骨瘤;候选致病基因
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 | Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture | 期刊论文 | Li Niu;Xu Yufei;Zhang Yi;Li Guoqaing;Yu Tingting;Yao Ruen;Zhou Yunfang;Shen Yiping;Yin Lei;Wang Xiumin;Wang Jian |
| 2 | Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature | 期刊论文 | Li Niu;Chang Guoying;Xu Yufei;Ding Yu;Li Guoqiang;Yu Tingting;Yao Ruen;Li Juan;Shen Yiping;Wang Xiumin;Wang Jian |
| 3 | Functional analysis of Fanconi anemia mutations in China | 期刊论文 | Li Niu;Ding Lixia;Li Benshang;Wang Jian;D'Andrea Alan D;Chen Jing |
| 4 | Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay | 期刊论文 | Li Niu;Xu Yufei;Li Guoqiang;Yu Tingting;Yao Ru en;Wang Xiumin;Wang Jian |
| 5 | Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients | 期刊论文 | Li Niu;Wang Yirou;Yang Yu;Wang Pengpeng;Huang Hui;Xiong Shiyi;Sun Luming;Cheng Min;Song Cui;Cheng Xinran;Ding Yu;Chang Guoying;Chen Yao;Xu Yufei;Yu Tingting;Yao Ru en;Shen Yiping;Wang Xiumin;Wang Jian |
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