×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Cross-sectional study of 245 girls and women with typical Rett syndrome seen between 1990 and 2004 in tertiary academic outpatient specialty clinics and who had complete MECP2 mutation analysis.
18337588
2008
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome .
10944854
2000
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.
25541993
2014
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Mutations were sought in MECP2 in 48 females with classical sporadic RTT , seven families with possible familial RTT and five sporadic females with features suggestive, but not diagnostic of RTT .
10767337
2000
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
We review the literature on MECP2 mutations in Rett syndrome .
11269512
2001
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
10814718
2000
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA.
10852707
2000
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
17387578
2007
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.
24508304
2014
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.
19652677
2009
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
We report on 30 adolescent and adult females with classical or atypical RTT of whom 24 have a MECP2 mutation.
12966523
2003
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations.
19442733
2009
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X.
24626160
2014
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2 ) in patients with Rett syndrome .
10991688
2000
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M ) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)].
11402105
2001
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome.
11331619
2001
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum.
10577905
1999
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
DHPLC analysis of the MECP2 gene in Italian Rett patients.
11462237
2001
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Large MECP2 rearrangements cause Rett syndrome in a significant number of girls without 'classic' mutations in this gene.
17986102
2007
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.
23696494
2013
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
A Rett syndrome MECP2 mutation that causes mental retardation in men.
11805248
2002
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro.
20093853
2010
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.
10805343
2000
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
16473305
2006
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Clinical profile of a male with Rett syndrome.
16182490
2005