|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
|
24916645 |
2015 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor.
|
23770565 |
2013 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
MeCP2 deficiency is associated with impaired microtubule stability.
|
23238081 |
2013 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
|
21160487 |
2011 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.
|
21372149 |
2011 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro.
|
20093853 |
2010 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
|
17387578 |
2007 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
|
16183801 |
2006 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
|
16473305 |
2006 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.
|
15526954 |
2004 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.
|
15173251 |
2004 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
|
12872250 |
2003 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations.
|
12418965 |
2002 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
DHPLC analysis of the MECP2 gene in Italian Rett patients.
|
11462237 |
2001 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
|
11241840 |
2001 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.
|
11214906 |
2001 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
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 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Functional consequences of Rett syndrome mutations on human MeCP2.
|
11058114 |
2000 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Mutation screening in Rett syndrome patients.
|
10745042 |
2000 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.
|
10991688 |
2000 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
|
10814718 |
2000 |
|
Rett Syndrome
|
|
0.870 |
CausalMutation
|
CLINVAR |
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
|
10577905 |
1999 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
|
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome.
|
26647311 |
2016 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
|
0.700 |
CausalMutation
|
CLINVAR |
Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.
|
24970834 |
2014 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
|
0.700 |
CausalMutation
|
CLINVAR |
Subclinical inflammatory status in Rett syndrome.
|
24511209 |
2014 |