Associated Papers
Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations.
Lebeda D et al.
Journal of Molecular Medicine (berlin, Germany), 2024
Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants.
Ganakammal SR et al.
Peerj, 2019
31799076 (PubMed )
Supplement: peerj-07-8106-s001.xlsx › RETT_syndrome_reclassification_
First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature.
Gharesouran J et al.
Epilepsy & Behavior Case Reports, 2015
A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.
Fendri-Kriaa N et al.
Biochemical and Biophysical Research Communications, 2011
Spectrum of MECP2 mutations in Rett syndrome.
Bienvenu T et al.
Genetic Testing, 2002
Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations.
Shahbazian MD et al.
Current Opinion in Neurology, 2001
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.
Bourdon V et al.
Human Genetics, 2001
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
Vacca M et al.
Journal of Molecular Medicine (berlin, Germany), 2001
Rett syndrome: a surprising result of mutation in MECP2.
Dragich J et al.
Human Molecular Genetics, 2000
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
Philippe C et al.
European Journal of Medical Genetics, 0
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