|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
|
Mental Retardation, X-Linked, Syndromic 13
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
|
17296936 |
2007 |
|
Mental Retardation, X-Linked, Syndromic 13
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel familial MECP2 mutation in a young boy: clinical and molecular findings.
|
16966553 |
2006 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
|
0.700 |
GeneticVariation
|
CLINVAR |
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
|
14598336 |
2003 |
|
Mental Retardation, X-Linked, Syndromic 13
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).
|
12615169 |
2003 |
|
Mental Retardation, X-Linked, Syndromic 13
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
|
12325019 |
2002 |
|
Mental Retardation, X-Linked, Syndromic 13
|
|
0.700 |
GeneticVariation
|
UNIPROT |
MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.
|
12161600 |
2002 |
|
Mental Retardation, X-Linked, Syndromic 13
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.
|
11885030 |
2002 |
|
Mental Retardation, X-Linked, Syndromic 13
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A Rett syndrome MECP2 mutation that causes mental retardation in men.
|
11805248 |
2002 |
|
Mental Retardation, X-Linked, Syndromic 13
|
|
0.700 |
GeneticVariation
|
UNIPROT |
MECP2 is highly mutated in X-linked mental retardation.
|
11309367 |
2001 |
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
|
0.700 |
GeneticVariation
|
CLINVAR |
MECP2 is highly mutated in X-linked mental retardation.
|
11309367 |
2001 |
|
Mental Retardation, X-Linked, Syndromic 13
|
|
0.700 |
GeneticVariation
|
UNIPROT |
MECP2 mutation in male patients with non-specific X-linked mental retardation.
|
11007980 |
2000 |
|
Mental Retardation, X-Linked, Syndromic 13
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
|
10986043 |
2000 |
|
Rett Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Intellectual Disability
|
|
0.020 |
GeneticVariation
|
BEFREE |
Targeted next-generation sequencing of a panel of intellectual disability related genes was performed on two unrelated male patients, and two missense variants in MECP2 were identified (p.Gly185Val and p.Arg167Trp).
|
26490184 |
2016 |
|
Intellectual Disability
|
|
0.020 |
GeneticVariation
|
BEFREE |
The first mutation, an E137G, was identified in the MRX16 family, and the second, R167W, was identified in a new mental retardation (MR) family shown to be linked to Xq28.
|
11309367 |
2001 |
|
Mental Retardation
|
|
0.010 |
GeneticVariation
|
BEFREE |
The first mutation, an E137G, was identified in the MRX16 family, and the second, R167W, was identified in a new mental retardation (MR) family shown to be linked to Xq28.
|
11309367 |
2001 |