ASXL3基因突变导致常染色体隐性遗传性先天性心脏病致病机制研究
81771594
2017
H0419.胎儿相关性疾病与胎源性疾病
李茹
面上项目
主任技师
广州医科大学
55万元
ASXL3基因;多梳蛋白;复合杂合突变;常染色体隐性遗传;先天性心脏病
2018-01-01到2021-12-31
- 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 | Compound heterozygous mutation of theASXL3gene causes autosomal recessive congenital heart disease | 期刊论文 | Fu Fang;Li Ru;Lei Ting-ying;Wang Dan;Yang Xin;Han Jin;Pan Min;Zhen Li;Li Jian;Li Fa-tao;Jing Xiang-yi;Li Dong-zhi;Liao Can |
| 2 | Prenatal exome sequencing in fetuses with congenital heart defects | 期刊论文 | Li Ru;Fu Fang;Yu Qiuxia;Wang Dan;Jing Xiangyi;Zhang Yongling;Li Fucheng;Li Fatao;Han Jin;Pan Min;Zhen Li;Li Dongzhi;Liao Can |
| 3 | Genetic tests aid in counseling of fetuses with cerebellar vermis defects | 期刊论文 | Li Lushan;Fu Fang;Li Ru;Xiao Weiqiang;Yu Qiuxia;Wang Dan;Jing Xiangyi;Zhang Yongning;Yang Xin;Pan Min;Liu Zequn;Liao Can |
| 4 | Whole-exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography | 期刊论文 | Lei Ting-Ying;Fu Fang;Li Ru;Yu Qiu-Xia;Du Kun;Zhang Wen-Wen;Deng Qiong;Li Lu-Shan;Wang Dan;Yang Xin;Zhen Li;Li Dong-Zhi;Liao Can |
| 5 | Nonimmune hydrops fetalis: Genetic analysis and clinical outcome | 期刊论文 | Deng Qiong;Fu Fang;Yu Qiuxia;Li Ru;Li Fucheng;Wang Dan;Lei Tingying;Yang Xin;Liao Can |
| 6 | 突变的ASXL3基因及应用 | 专利 | 符芳;廖灿;李茹;李东至;党孝;杨昕;韩瑾;潘敏;甄理;王丹;雷婷缨;张永玲;景象一 |
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