Associated Papers
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X et al.
Molecular Genetics & Genomic Medicine, 2022
35318820 (PubMed )
Supplement: MGG3-10-e1917-s002.xlsx › Sheet1
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
Maortua H et al.
The Journal of Molecular Diagnostics : Jmd, 2013
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
Miltenberger-Miltenyi G et al.
Human Mutation, 2003
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.
Beyer KS et al.
Human Genetics, 2002
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
Buyse IM et al.
American Journal of Human Genetics, 2000
Preserved speech variant is allelic of classic Rett syndrome.
De Bona C et al.
European Journal of Human Genetics : Ejhg, 2000
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