|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
GeneticVariation |
CLINVAR |
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
|
26490184 |
2016 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations.
|
27442528 |
2016 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
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
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome.
|
26647311 |
2016 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
GeneticVariation |
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
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.
|
26604147 |
2016 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
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
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.
|
25634563 |
2015 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
Impact of Rett Syndrome Mutations on MeCP2 MBD Stability.
|
26418480 |
2015 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
GeneticVariation |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.
|
25541993 |
2014 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
|
25473036 |
2014 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
Subclinical inflammatory status in Rett syndrome.
|
24511209 |
2014 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
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
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.
|
24970834 |
2014 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
Using a large international sample to investigate epilepsy in Rett syndrome.
|
23421866 |
2013 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor.
|
23770565 |
2013 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
MeCP2 deficiency is associated with impaired microtubule stability.
|
23238081 |
2013 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR.
|
23770587 |
2013 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
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
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
Pubertal trajectory in females with Rett syndrome: a population-based study.
|
23270700 |
2013 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
MeCP2 R168X male and female mutant mice exhibit Rett-like behavioral deficits.
|
24283265 |
2013 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
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
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.720 |
CausalMutation |
CLINVAR |
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
|
22182064 |
2012 |