Associated Papers
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ et al.
Orphanet Journal of Rare Diseases, 2023
37480025 (PubMed )
Supplement: 13023_2023_2809_MOESM1_ESM.pdf
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X et al.
Molecular Genetics & Genomic Medicine, 2022
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.
Halbach N et al.
American Journal of Medical Genetics. Part A, 2016
A brain-derived MeCP2 complex supports a role for MeCP2 in RNA processing.
Long SW et al.
Bioscience Reports, 2011
Patients with Rett syndrome sustain low-energy fractures.
Roende G et al.
Pediatric Research, 2011
Aminoglycoside-mediated partial suppression of MECP2 nonsense mutations responsible for Rett syndrome in vitro.
Popescu AC et al.
Journal of Neuroscience Research, 2010
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
Zahorakova D et al.
Journal of Human Genetics, 2007
A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene.
Bzduch V et al.
Bratislavske Lekarske Listy, 2004
[Analysis of the most frequent mutations in girls with Rett syndrome].
Rosipal R et al.
Casopis Lekaru Ceskych, 2001
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