Associated Papers
Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.
Zhang Q et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30405208 (PubMed )
Supplement: 41436_2018_348_MOESM3_ESM.xlsx › Sheet1
Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation.
Takeshita E et al.
Journal of the Neurological Sciences, 2011
Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome.
Kim IJ et al.
Experimental & Molecular Medicine, 2006
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
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.
Amir RE et al.
Annals of Neurology, 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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