|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
|
11055898 |
2000 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Variable phenotypic expression of a MECP2 mutation in a family.
|
20151026 |
2009 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
[Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome].
|
18021529 |
2007 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
|
26490184 |
2016 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems.
|
11738866 |
2001 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Using a large international sample to investigate epilepsy in Rett syndrome.
|
23421866 |
2013 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.
|
12325033 |
2002 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.
|
11245712 |
2001 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.
|
25634563 |
2015 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.
|
25541993 |
2014 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
|
10577905 |
1999 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations.
|
27442528 |
2016 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis.
|
22525432 |
2012 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.
|
11214906 |
2001 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
MeCP2 Rett mutations affect large scale chromatin organization.
|
21831886 |
2011 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
|
22182064 |
2012 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
|
25473036 |
2014 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Impact of Rett Syndrome Mutations on MeCP2 MBD Stability.
|
26418480 |
2015 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
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 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
[Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome].
|
20376788 |
2010 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome.
|
26647311 |
2016 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
DHPLC analysis of the MECP2 gene in Italian Rett patients.
|
11462237 |
2001 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
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 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.
|
15737703 |
2005 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor.
|
23770565 |
2013 |