×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations.
19309269 2009
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome].
19573459 2009
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations.
19217433 2009
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Rett syndrome and long-term disorder profile.
19133691 2009
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin.
19371229 2009
×
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
Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo.
18334558 2008
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Homozygosity for MECP2 gene in a girl with classical Rett syndrome .
17881312 2008
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.
18842453 2008
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions.
18499664 2008
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
18332345 2008
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Multiple de novo mutations in the MECP2 gene.
18652533 2008
×
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
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
In all, we identified 45 different MECP2 mutations in 102 of these RTT patients.
17089071 2007
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.
17084570 2007
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
[Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome].
18021529 2007
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Abnormal movements in Rett syndrome are present before the regression period: a case study.
17914728 2007
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
In all, we identified 45 different MECP2 mutations in 102 of these RTT patients.
17089071 2007
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
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
CausalMutation
CLINVAR
MECP2 mutations were identified in 914 of 1059 participants (86%): 799 of 870 (92%) participants with typical Rett syndrome had an MECP2 mutation, 94 of 162 (58%) with atypical Rett syndrome had a mutation, and all 21 individuals diagnosed as Not Rett syndrome had a mutation.18174548 2007
×
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
CausalMutation
CLINVAR
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
16376510 2006
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.
17142618 2006
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
People with MECP2 mutation-positive Rett disorder who converse.
16629931 2006