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Updated: Sep 10, 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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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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エクソーム配列解析により,胎児の構造的欠陥に対する有望な候補遺伝子が発見されました

Digumarthi Vs Sudhakar1,2, Shaini Joseph1,2, Vandana Bansal3

  • 1Department of Genetic Research Centre, ICMR-National Institute for Research in Reproductive and Child Health, Mumbai, Maharashtra, India.

The Indian journal of medical research
|August 22, 2025
PubMed
まとめ

この研究は,高度な遺伝子検査を用いて, 変形した胎児における新しい遺伝的要因を特定した. この発見により 構造的異常の診断が改善され 胎児の発達に関する将来の研究に 役立ちました

キーワード:
エクソムの配列化と胎児の異常胎児の構造異常胎児の不完全性の遺伝学神経管の欠陥産前遺伝子診断

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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関連する概念動画

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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