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.

Petel-Galil, Y; Benteer, B; Galil, Y P; Zeev, B B; Greenbaum, I; Vecsler, M; Goldman, B; Lohi, H; Minassian, B A; Gak, E

Petel-Galil, Y; Benteer, B; Galil, Y P; Zeev, B B; Greenbaum, I; Vecsler, M; Goldman, B; Lohi, H; Minassian, B A; Gak, E.

J Med Genet ; 43(12): e56, 2006 Dec.

Article in En | MEDLINE | ID: mdl-17142618

Subject(s)

Gene Expression/genetics; Methyl-CpG-Binding Protein 2/genetics; Mutation/genetics; Rett Syndrome/genetics; Adolescent; Adult; Child; Child, Preschool; Cohort Studies; DNA Mutational Analysis/methods; Humans; Israel; Methyl-CpG-Binding Protein 2/blood; Methyl-CpG-Binding Protein 2/deficiency; Reproducibility of Results; Rett Syndrome/diagnosis; Rett Syndrome/metabolism; X Chromosome Inactivation

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gene Expression / Rett Syndrome / Methyl-CpG-Binding Protein 2 / Mutation Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans Country/Region as subject: Asia Language: En Journal: J Med Genet Year: 2006 Document type: Article

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