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Updated: May 8, 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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一个新的病例NOTCH1 变种和非免疫的Hydrops Fetalis:一个病例报告

Genevieve R Mazza1, Alesandra R Rau1, Madushka Y De Zoysa1,2

  • 1Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynecology, University of California, Irvine, California, USA.

Case reports in genetics
|September 10, 2025
PubMed
概括

非免疫性胎儿水 (NIHF) 是一种严重的疾病. 一个新的NOTCH1基因变异被确定为第一个报告病例的原因,扩大了对NIHF病因的理解.

关键词:
NOTCH1 致病变体的病原性变体案例报告案例报告胎儿水的情况非免疫性水围产期的结果.

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Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
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Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...