Ontology highlight
ABSTRACT:
SUBMITTER: Kuang SQ
PROVIDER: S-EPMC3116911 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Kuang Shao-Qing SQ Guo Dong-Chuan DC Prakash Siddharth K SK McDonald Merry-Lynn N ML Johnson Ralph J RJ Wang Min M Regalado Ellen S ES Russell Ludivine L Cao Jiu-Mei JM Kwartler Callie C Fraivillig Kurt K Coselli Joseph S JS Safi Hazim J HJ Estrera Anthony L AL Leal Suzanne M SM LeMaire Scott A SA Belmont John W JW Milewicz Dianna M DM
PLoS genetics 20110616 6
Chromosomal deletions or reciprocal duplications of the 16p13.1 region have been implicated in a variety of neuropsychiatric disorders such as autism, schizophrenia, epilepsies, and attention-deficit hyperactivity disorder (ADHD). In this study, we investigated the association of recurrent genomic copy number variants (CNVs) with thoracic aortic aneurysms and dissections (TAAD). By using SNP arrays to screen and comparative genomic hybridization microarrays to validate, we identified 16p13.1 dup ...[more]