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Updated: May 18, 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

重度の非症候群性散発性知的障害に関連する遺伝子の変異の範囲:エクソームシーケンシングの研究

Anita Rauch1, Dagmar Wieczorek, Elisabeth Graf

  • 1Institute of Medical Genetics, University of Zurich, Schwerzenbach-Zurich, Switzerland.

Lancet (London, England)
|October 2, 2012
PubMed
まとめ

遺伝子のデノボ変異は,重症で散発的な知的障害と関連しており,患者の45~55%に影響を及ぼしている. この研究は,新しい病気を引き起こす変異を特定し,知的障害の遺伝子診断を改善しました.

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

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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Intellectual Disability

Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
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Mutations

Overview
Mutations01:35

Mutations

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Exon Recombination

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Genome-wide Association Studies-GWAS

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Alternative RNA Splicing

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