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

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

1999 • 4,776 citations

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

1998 • 3,363 citations

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

1998 • 2,686 citations

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

1983 • 1,481 citations

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to Methylated DNA

1992 • 1,331 citations

Clinics in Developmental Medicine

2013 • 1,161 citations

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

1997 • 946 citations

Recommendations for a nomenclature system for human gene mutations

1998 • 936 citations

Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2

1993 • 584 citations

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

1999 • 502 citations

Neighboring-Nucleotide Effects on the Rates of Germ-Line Single-Base-Pair Substitution in Human Genes

1998 • 319 citations

Human gene mutation

1993 • 316 citations

Isolation, physical mapping, and Northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2

1996 • 141 citations

A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression

1999 • 134 citations

The prevalence and incidence of Rett syndrome in Australia.

1997 • 124 citations

Rett's syndrome in the west of Scotland.

1985 • 122 citations

A New Rett Syndrome Family Consistent with X-Linked Inheritance Expands the X Chromosome Exclusion Map

1997 • 115 citations

Identification of Mutations in the Repeated Part of the Autosomal Dominant Polycystic Kidney Disease Type 1 Gene, PKD1, by Long-Range PCR

1999 • 111 citations

Neonatal Encephalopathy in Two Boys in Families With Recurrent Rett Syndrome

1998 • 93 citations

Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis.

1992 • 86 citations

Functional evidence of brain stem immaturity in Rett syndrome.

1997 • 75 citations

Recommendations for a nomenclature system for human gene mutations

1998 • 63 citations

Genetic Aspects of Rett Syndrome

1988 • 60 citations

Update on nomenclature for human gene mutations

1996 • 59 citations

Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.

1998 • 48 citations

Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq.

1998 • 45 citations

X chromosome linkage studies in familial Rett syndrome

1993 • 44 citations

Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales

1993 • 40 citations

Mother and daughter with Rett syndrome.

1992 • 34 citations

Clinical criteria, stages and natural history

1993 • 29 citations

Rett syndrome: Lack of association with fragile site Xp22 and strategy for genetic mapping of X-linked new mutations

1986 • 24 citations

Evaluation of two X chromosomal candidate genes for Rett syndrome: Glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDI1)

1998 • 20 citations

Abnormalities of carbohydrate metabolism and of oct gene function in the Rett syndrome

1990 • 16 citations

Short Fourth Toes in Rett Syndrome: A Biological Indicator

1995 • 9 citations

Molecular genetic studies in familial Rett syndrome

1997 • 1 citations