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Article

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.

Human mutation - 1 Dec 2011

Kariminejad Roxana, Lind-Thomsen Allan, Tümer Zeynep, Erdogan Fikret, Ropers Hans H, Tommerup Niels, Ullmann Reinhard, Møller Rikke S

Abstract excerpt

During the past years, significant advances have been made in our understanding of the development of the human brain, and much of this knowledge comes from genetic studies of disorders associated with abnormal brain development. We employed array-comparative genomic hybridization (CGH) to investigate copy number variants (CNVs) in a cohort of 169 patients with various structural brain malformations including...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 21882292
DOI: 10.1002/humu.21585

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