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Updated: Jun 4, 2025

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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在一个具有结构异常的胎儿群体中对整个外体进行测序

Natalie Burrill1, Erica Schindewolf2, Lisa Pilchman3

  • 1Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Prenatal diagnosis
|January 1, 2025
PubMed
概括

外体测序 (ES) 在34.3%的胎儿中检测出先天性异常的遗传原因. 这种诊断工具对于异常怀孕是有价值的,为未来的计划生育提供了选择.

关键词:
尸体解剖 尸体解剖是什么意思外基因组测序是指外基因组的测序.基因检测 基因检测是指基因检测.有多种先天性异常.产前诊断 在产前诊断.超声波超声波是指超声波的使用.

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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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