A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

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

Medicine, Neurology, Pediatrics +15

MeCP2 Is a Transcriptional Repressor with Abundant Binding Sites in Genomic Chromatin

Xinsheng Nan, Francisco J. Campoy, Adrian Bird · Cell · 1997 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

Arupa Ganguly, Matthew J. Rock, Darwin J. Prockop · Proceedings of the National Academy of Sciences · 1993 · 677 citations

Life Sciences, Genetics, Molecular Biology +11

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

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Ruthie E. Amir, Ignatia B. Van den Veyver, Rebecca Schultz et al. · Annals of Neurology · 2000 · 345 citations

Life Sciences, Genetics, Neurology +15