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Updated: Jun 12, 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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在产前诊断的单独神经管缺陷中的外体序列化:一个特定亚型的分析

Adi Botvinik1, Vered Offen Glasner1, Adi Reches1

  • 1Prenatal Genetic Diagnosis Unit, Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Prenatal diagnosis
|February 19, 2026
PubMed
概括

外体测序揭示了神经管缺陷 (NTDs) 亚型的独特遗传基础,如脑外脑外脑 (AEAS) 序列,脊柱失明和脑. 这些发现突显了NTD内部的遗传多样性,表明它们不是单一的连续性.

关键词:
在PPP1R12A中.亚克拉尼亚亚克拉尼亚亚克拉尼亚脑细胞是指一个脑细胞.外基因组测序是指外基因组的测序.神经管缺陷 神经管缺陷在产前诊断 产前诊断

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Neurulation01:30

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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...