×
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
[Limulus test (factor G) and polysaccharides from fungus].
1402105 1992
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Effect of aging on kinetic parameters of 5 alpha-reductase in epithelium and stroma of normal and hyperplastic human prostate.
2460487 1988
×
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
GeneticVariation
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
Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum.
10577905 1999
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
A total of 27 sporadic RTT patients were found to have mutations in the MECP2 gene, but no mutations were identified in our RTT families.
10745042 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Mutations were sought in MECP2 in 48 females with classical sporadic RTT , seven families with possible familial RTT and five sporadic females with features suggestive, but not diagnostic of RTT .
10767337 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Mutations were sought in MECP2 in 48 females with classical sporadic RTT , seven families with possible familial RTT and five sporadic females with features suggestive, but not diagnostic of RTT .
10767337 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.
10805343 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
10814718 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
10814718 2000
×
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
GeneticVariation
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
×
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
The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome .
10944854 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2 ) in patients with Rett syndrome .
10991688 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2 ) in patients with Rett syndrome .
10991688 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome .
10991689 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
MECP2 mutation in male patients with non-specific X-linked mental retardation.
11007980 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Reduction of mortality in specific-pathogen-free layer chickens by a caprine serum fraction after infection with Pasteurella multocida.
11055848 2000
×
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
Functional consequences of Rett syndrome mutations on human MeCP2.
11058114 2000
×
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
Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT ), an X-linked dominant neurodevelopmental disease.
11241840 2001