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

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

1999 • 4,776 citations

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

1992 • 1,686 citations

A novel X-linked gene, G4.5. is responsible for Barth syndrome

1996 • 733 citations

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

1999 • 502 citations

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

2000 • 334 citations

MECP2 mutations account for most cases of typical forms of Rett syndrome

2000 • 296 citations

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location

2000 • 282 citations

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients

2000 • 244 citations

The Methyl-CpG Binding Transcriptional Repressor MeCP2 Stably Associates with Nucleosomal DNA

1999 • 182 citations

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

1994 • 136 citations

Preserved speech variant is allelic of classic Rett syndrome

2000 • 125 citations

Mutation screening in Rett syndrome patients

2000 • 110 citations

Methyl-CpG-binding protein 2 mutations in Rett syndrome

2000 • 104 citations

Human Brain Factor 1, a New Member of the Fork Head Gene Family

1994 • 77 citations

Novelde novo nonsense mutation ofMECP2 in a patient with Rett syndrome

2000 • 37 citations

X‐linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies

1997 • 14 citations