Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males
Top Cited Papers
- 1 September 2005
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 77 (3) , 442-453
- https://doi.org/10.1086/444549
Abstract
No abstract availableKeywords
This publication has 37 references indexed in Scilit:
- Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosisHuman Molecular Genetics, 2005
- Functional disomy of the Xq28 chromosome regionEuropean Journal of Human Genetics, 2005
- Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplicationHuman Mutation, 2004
- High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisationJournal of Medical Genetics, 2004
- Disomy of distal Xq in males: Case report and overviewAmerican Journal of Medical Genetics Part A, 2004
- Gross rearrangements in theMECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndromeHuman Mutation, 2003
- Inherited duplication of Xq27.2 ??? qter: phenocopy of infantile Prader-Willi syndromeClinical Dysmorphology, 2001
- A familial Xp+ chromosome, dup (Xq26.3-->qter).Journal of Medical Genetics, 1995
- Xq–Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotypeNature Genetics, 1994
- Computerized Real-Time Neuromuscular Sonography: A New Application, Techniques and MethodsJournal of Child Neurology, 1988