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Updated: Jan 10, 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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染色体转位t(1;18):在一个正常智力发育和依赖皮里多克素的儿童中,基因组复杂性的范式

Raffaele Falsaperla1,2, Eliana Salvo3, Annamaria Sapuppo4

  • 1Department of Medical Science, Pediatrics, University of Ferrara, 44124 Ferrara, Italy.

Genes
|November 27, 2025
PubMed
概括

这项研究调查了一个罕见的形式的皮里多克素依赖性 (PDE) 在一个正常发育的孩子. 复杂的基因组重组,而不是单个基因突变,被确定为这种独特的素依赖神经系统疾病的可能原因.

关键词:
16p11.2 重复复制的情况18q12.3删除 删除 删除这是RIT2的价格.通过光学基因组映射进行基因组映射.发作 发作 这些进行全基因组测序.

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