基于高通量测序的染色体微缺失/微重复产前诊断新技术研究
81300495
2013
H0419.胎儿相关性疾病与胎源性疾病
胡平
青年科学基金项目
副研究员
南京医科大学
23万元
微缺失;产前诊断;微重复;出生缺陷;新技术
2014-01-01到2016-12-31
- 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 | Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach. | 期刊论文 | Jiang, Hui|Wang, Wei|Wai Choy, Kwong|Xu, Zhengfeng| |
| 2 | Clinical application of SNP array analysis in first-trimester pregnancy loss: a prospective study. | 期刊论文 | Jiang, T|Liang, D|Hu, P|Xu, Z| |
| 3 | A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation. | 期刊论文 | Yan Wang|Jing Zhou|Long Yi|Zhengfeng Xu| |
| 4 | Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing. | 期刊论文 | Ma, Dingyuan|Wang, Yan|Hu, Ping|Xu, Zhengfeng| |
| 5 | Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocations. | 期刊论文 | Song, L|Guo, J|Hu, P|Xu, Z| |
| 6 | Follistatin-like 1 protects cardiomyoblasts from injury induced by sodium nitroprusside through modulating Akt and Smad1/5/9 signaling | 期刊论文 | Yueqiu Chen|Jianping Wu|Wei Lei|Zhenya Shen| |
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