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

Human Mutation

Volumn 32, Issue 12, 2011, Pages 1427-1435

  Kariminejad, Roxana ^a,b,e   Lind Thomsen, Allan ^c   Tümer, Zeynep ^c   Erdogan, Fikret ^b   Ropers, Hans H ^b   Tommerup, Niels ^c   Ullmann, Reinhard ^b   Møller, Rikke S ^b,c,d  

^a Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d DANISH EPILEPSY CENTRE   (Denmark)

^e JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

Array CGH; Brain malformation; CNV; Copy number variant; Epilepsy

Indexed keywords

CATION; STRESS ACTIVATED PROTEIN KINASE;

AGYRIA; ARTICLE; CATION TRANSPORT; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CORPUS CALLOSUM AGENESIS; CORTICAL DYSPLASIA; EPILEPSY; FEMALE; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MICROGYRIA; MUTATION RATE; NERVE FIBER TRANSPORT; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION;

AGENESIS OF CORPUS CALLOSUM; BRAIN; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; EPILEPSY; FEMALE; GENE DOSAGE; GENE FREQUENCY; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; NERVOUS SYSTEM MALFORMATIONS; PHENOTYPE; PROTEINS; TOMOGRAPHY SCANNERS, X-RAY COMPUTED;

EID: 81255207146     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21585     Document Type: Article

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