Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation
Top Cited Papers
- 24 January 2008
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 82 (2) , 432-443
- https://doi.org/10.1016/j.ajhg.2007.11.002
Abstract
No abstract availableKeywords
This publication has 42 references indexed in Scilit:
- X-linked mental retardation: many genes for a complex disorderCurrent Opinion in Genetics & Development, 2006
- The ubiquitin–proteasome pathway in Parkinson's disease and other neurodegenerative diseasesTrends in Cell Biology, 2004
- Over-expression of human UREB1 in colorectal cancer: HECT domain of human UREB1 inhibits the activity of tumor suppressor p53 proteinBiochemical and Biophysical Research Communications, 2004
- L‐3‐hydroxyacyl‐CoA dehydrogenase II protects in a model of Parkinson's diseaseAnnals of Neurology, 2004
- The epidemiology of mental retardation: Challenges and opportunities in the new millenniumMental Retardation and Developmental Disabilities Research Reviews, 2002
- De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndromeNature Genetics, 1997
- UBE3A/E6-AP mutations cause Angelman syndromeNature Genetics, 1997
- Regional localization of two non-specific X-linked mental retardation genes (MRX30 andMRX31)American Journal of Medical Genetics, 1996
- High-frequency developmental abnormalities in p53-deficient miceCurrent Biology, 1995
- X‐linked mental retardation with heterozygous expression and macrocephaly: Pericentromeric gene localizationAmerican Journal of Medical Genetics, 1994