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Updated: Jul 29, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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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胎儿和婴儿结核性硬化综合体的分子诊断:一个机构病例系列

Anna S Bolshakova1, Dmitry N Maslennikov2, Jekaterina Shubina2

  • 1Department of Clinical Genetics, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation.

Journal of clinical pathology
|August 3, 2023
PubMed
概括

结核性硬化综合体 (TSC) 的早期查确定了关键的临床和遗传特征. 患有TSC2变异的患者比患有TSC1变异的患者表现得更早,更严重的症状,改善了遗传咨询和围产期护理.

关键词:
大脑大脑大脑的大脑大脑遗传性疾病,先天性疾病.心灵的心灵心灵的心灵心灵的心灵婴儿,新生儿,疾病.皮肤 皮肤 皮肤

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Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development05:44

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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...