Classic Rett syndrome in a boy with R133C mutation of MECP2

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

Life Sciences, Genetics, Molecular Genetics +9

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

Medicine, Genetics, Molecular Genetics +14

Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

Mimi Wan, Stephen Sung Jae Lee, Xianyu Zhang et al. · The American Journal of Human Genetics · 1999 · 518 citations · Full text

Life Sciences, Genetics, Neuroscience +9

Solution Structure of the Methyl-CpG Binding Domain of Human MBD1 in Complex with Methylated DNA

Izuru Ohki, Nobuya Shimotake, Naoyuki Fujita et al. · Cell · 2001 · 315 citations · Full text

Life Sciences, Genetics, Molecular Biology +9

A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males

Ilaria Meloni, Mirella Bruttini, Ilaria Longo et al. · The American Journal of Human Genetics · 2000 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16