Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females
- 11 September 2009
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 85 (3), 394-400
- https://doi.org/10.1016/j.ajhg.2009.08.001
Abstract
No abstract availableKeywords
This publication has 37 references indexed in Scilit:
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationNature Genetics, 2009
- Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathyEuropean Journal of Human Genetics, 2008
- Clinical and molecular delineation of the 17q21.31 microdeletion syndromeJournal of Medical Genetics, 2008
- A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplicationsEuropean Journal of Human Genetics, 2008
- Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental RetardationAmerican Journal of Human Genetics, 2008
- Structural Variation of Chromosomes in Autism Spectrum DisorderAmerican Journal of Human Genetics, 2008
- The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal BehaviorAmerican Journal of Human Genetics, 2007
- Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 geneJournal of Medical Genetics, 2006
- X-inactivation profile reveals extensive variability in X-linked gene expression in femalesNature, 2005
- X-linked mental retardationNature Reviews Genetics, 2005