×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Rett Syndrome
0.500
GeneticVariation
CLINVAR
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Rett Syndrome
0.500
CausalMutation
CLINVAR
×
Entrez Id:
9568
Gene Symbol:
GABBR2
GABBR2
Rett Syndrome
0.410
CausalMutation
CLINVAR
×
Entrez Id:
23221
Gene Symbol:
RHOBTB2
RHOBTB2
Rett Syndrome
0.100
GeneticVariation
CLINVAR
×
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