User: Guest  Login
Document type:
journal 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 
Title:
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. 
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:
Pages contribution:
768-79 
Language:
eng 
Print-ISSN:
0002-9297 
TUM Institution:
Kinderklinik und Poliklinik; r Humangenetik