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
Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent.
Kamdar P et al.
Journal of Genetics, 2020
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
28947817 (PubMed )
Supplement: 41598_2017_11620_MOESM1_ESM.pdf
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
Hadzsiev K et al.
Journal of Human Genetics, 2011
Updating the profile of C-terminal MECP2 deletions in Rett syndrome.
Bebbington A et al.
Journal of Medical Genetics, 2010
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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