×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
GeneticVariation
group
BEFREE
The aim of this work was to analyze movement disorders in RS patients with a detected MECP2 mutation, as well as their correlation with genotype, in a clinically and genetically well-characterized sample of patients, and thus contribute to redefine the clinical profile of this disease.
18512755
2008
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
GeneticVariation
group
CLINVAR
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.
27354166
2016
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
CausalMutation
group
CLINVAR
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.
15558314
2005
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
CausalMutation
group
CLINVAR
Rett syndrome: revised diagnostic criteria and nomenclature.
21154482
2010
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
CausalMutation
group
CLINVAR
Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.
17267601
2007
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
CausalMutation
group
CLINVAR
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
10508514
1999
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
CausalMutation
group
CLINVAR
Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.
8177735
1993
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
CausalMutation
group
CLINVAR
MECP2 mutations in males.
17351020
2007
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
CausalMutation
group
CLINVAR
MECP2 duplication: possible cause of severe phenotype in females.
24458799
2014
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
CausalMutation
group
CLINVAR
Early progressive encephalopathy in boys and MECP2 mutations.
16832102
2006
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
GeneticVariation
group
CLINVAR
Early progressive encephalopathy in boys and MECP2 mutations.
16832102
2006
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
GeneticVariation
group
CLINVAR
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
10508514
1999
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
GeneticVariation
group
CLINVAR
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.
18337588
2008
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
GeneticVariation
group
CLINVAR
Epilepsy in a representative series of Rett syndrome.
11227330
2001
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
CausalMutation
group
CLINVAR
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).
12615169
2003
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
CausalMutation
group
CLINVAR
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.
24399845
2014
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
GeneticVariation
group
CLINVAR
DNA recognition by the methyl-CpG binding domain of MeCP2.
11035019
2001
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
GeneticVariation
group
CLINVAR
Male Rett phenotypes in T158M and R294X MeCP2-mutations.
17236109
2006
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
GeneticVariation
group
CLINVAR
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.
24399845
2014
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
CausalMutation
group
CLINVAR
DNA recognition by the methyl-CpG binding domain of MeCP2.
11035019
2001
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
CausalMutation
group
CLINVAR
Functional consequences of Rett syndrome mutations on human MeCP2.
11058114
2000
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
GeneticVariation
group
CLINVAR
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
15057977
2004
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
GeneticVariation
group
CLINVAR
Functional consequences of Rett syndrome mutations on human MeCP2.
11058114
2000
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
GeneticVariation
group
CLINVAR
MECP2 duplication: possible cause of severe phenotype in females.
24458799
2014
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.110
GeneticVariation
group
CLINVAR
Rett syndrome: revised diagnostic criteria and nomenclature.
21154482
2010