×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.
27929079
2016
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype.
27255190
2016
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
26936630
2016
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.
27465203
2016
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
Functional outcomes in Rett syndrome.
26175308
2016
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
24916645
2015
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
GeneticVariation
disease
CLINVAR
Brief report: systematic review of Rett syndrome in males.
26254891
2015
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.
25541993
2014
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
GeneticVariation
disease
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
1.000
CausalMutation
disease
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
1.000
CausalMutation
disease
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
1.000
CausalMutation
disease
CLINVAR
Subclinical inflammatory status in Rett syndrome.
24511209
2014
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.
24328834
2014
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
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
1.000
CausalMutation
disease
CLINVAR
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
23810759
2013
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.
23262346
2013
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
Pubertal trajectory in females with Rett syndrome: a population-based study.
23270700
2013
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
GeneticVariation
disease
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
1.000
CausalMutation
disease
CLINVAR
MeCP2 deficiency is associated with impaired microtubule stability.
23238081
2013
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
Our data are compatible with the hypothesis that brain dysfunction in RTT is caused by a loss of the MeCP2 'bridge' between the NCoR/SMRT co-repressors and chromatin.
23770565
2013
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders.
23452848
2013
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.
21982064
2012
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
Molecular diagnostic dilemmas in Rett syndrome.
22277191
2012
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
CausalMutation
disease
CLINVAR
Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis.
22525432
2012
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
1.000
GeneticVariation
disease
CLINVAR
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.
21982064
2012