Concepedia

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, Mieke Jansen, Martine Raynaud, Karen Hollanders, Dorien Lugtenberg, Thierry Bienvenu, Lars Riff Jensen, Jozef Gécz,

The American Journal of Human Genetics · 2005 · 627 citations · 30 references

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30

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan et al. · Nature Genetics · 1999 · 5K citations

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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

R.Cutler Allen, Huda Y. Zoghbi, A. Moseley et al. · PubMed · 1992 · 1.7K citations

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A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases

Bengt Hagberg, Jean Aicardi, Karin Ziliotto Dias et al. · Annals of Neurology · 1983 · 1.5K citations

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Mild overexpression of MeCP2 causes a progressive neurological disorder in mice

Ann L. Collins, Jonathan M. Levenson, Alexander P. Vilaythong et al. · Human Molecular Genetics · 2004 · 631 citations

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DNA microarrays for comparative genomic hybridization based on DOP‐PCR amplification of BAC and PAC clones

Heike Fiegler, Philippa Carr, Eleanor Douglas et al. · Genes Chromosomes and Cancer · 2003 · 468 citations · Full text

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