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Title:

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

Document type:
Journal Article; Article
Author(s):
Wagenstaller, J; Spranger, S; Lorenz-Depiereux, B; Kazmierczak, B; Nathrath, M; Wahl, D; Heye, B; Glaser, D; Liebscher, V; Meitinger, T; Strom, TM
Abstract:
Whole-genome analysis using high-density single-nucleotide-polymorphism oligonucleotide arrays allows identification of microdeletions, microduplications, and uniparental disomies. We studied 67 children with unexplained mental retardation with normal karyotypes, as assessed by G-banded chromosome analyses. Their DNAs were analyzed with Affymetrix 100K arrays. We detected 11 copy-number variations that most likely are causative of mental retardation, because they either arose de novo (9 cases) a...     »
Journal title abbreviation:
Am J Hum Genet
Year:
2007
Journal volume:
81
Journal issue:
4
Pages contribution:
768-79
Language:
eng
Fulltext / DOI:
doi:10.1086/521274
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/17847001
Print-ISSN:
0002-9297
TUM Institution:
Institut für Humangenetik; Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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