×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
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
Rett Syndrome
1.000
CausalMutation
CLINVAR
Collectively, we tested 228 unrelated female patients with a diagnosis of possible (209) or classic (19) RTT and found MECP2 mutations in 83 (40%) of 209 and 16 (84%) of 19 of the patients, respectively.
11055898 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.
11313756 2001
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
From these results, it is suggested that the clinical phenotype of RTT is variable and it is important to investigate the MECP2 genotype for patients having more than five criteria and not only in those who exhibit all RTT diagnostic criteria.
11376998 2001
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Functional consequences of Rett syndrome mutations on human MeCP2.
11058114 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice.
21764336 2011
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype.
27255190 2016
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
[Comparative and experimental studies on various prosthesis cleaners. 1. Testing of mechanical cleans power and the action on prosthesis materials].
1105898 1975
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Rett syndrome is caused by mutations in X-linked MECP2 , encoding methyl-CpG-binding protein 2 .10508514 1999
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
In all, we identified 45 different MECP2 mutations in 102 of these RTT patients.
17089071 2007
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
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
Rett Syndrome
1.000
CausalMutation
CLINVAR
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.
12325033 2002
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
21160487 2011
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Chronic osteomyelitis in patients with sickle cell disease.
10944834 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
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
Rett Syndrome
1.000
CausalMutation
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
Rett Syndrome
1.000
CausalMutation
CLINVAR
Only females with Rett syndrome and an identified MECP2 mutation were included.
16077729 2005
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
MeCP2 mutant protein is expressed in astrocytes as well as in neurons and localizes in the nucleus.
20625242 2010
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Spectrum of MECP2 mutations in Rett syndrome.
12180070 2002
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
16376510 2006
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.
15737703 2005
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.
17142618 2006
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.
11214906 2001
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
To characterize the spectrum of mutations in the MECP2 gene in RTT patients, we selected 46 typical RTT patients and performed mutation screening by denaturing gradient gel electrophoresis combined with direct sequencing.
10814719 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.
17084570 2007