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Updated: Jan 14, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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胎前外测序分析在胎儿结构异常:一个多中心前性队列研究与实际含义

Yulin Jiang1, Haibo Li2,3, Xiangyu Zhu4

  • 1Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College, Peking Union Medical College Hospital, Beijing, China.

Prenatal diagnosis
|October 18, 2025
PubMed
概括

使用副本数变体 (CNV) 和单核酸变体 (SNV) 分析的产前外体组序列 (ES) 分析可以改善胎儿结构异常的诊断. 这种先进的测试,ES-CNV/SNV,对于反复出现的异常特别有益.

关键词:
在CNV/SNV中使用.人类现象型本体学外基因组测序是指外基因组的测序.胎儿的现象类型在产前诊断 产前诊断经常出现的反复异常.零星的多系统异常.零星的单一系统异常.

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

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相关概念视频

Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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