Associated Papers
Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.
Chen E et al.
Genetics, 2025
Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study.
Podkorytova I et al.
The Journal of International Medical Research, 2025
MECP2 Variants in Males: More Common than Previously Appreciated.
Ananth A et al.
Pediatric Neurology, 2024
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
[Preimplantation genetic testing for a Chinese pedigree affected with Rett syndrome].
Duan S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
[Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].
Li Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.
Bach S et al.
Scientific Reports, 2020
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H et al.
European Journal of Human Genetics : Ejhg, 2020
Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome.
Takeshita E et al.
Human Genome Variation, 2019
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
38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting.
Stevens CA et al.
American Journal of Medical Genetics. Part A, 2018
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
Schönewolf-Greulich B et al.
Clinical Genetics, 2016
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
Patients with Rett syndrome sustain low-energy fractures.
Roende G et al.
Pediatric Research, 2011
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
Hadzsiev K et al.
Journal of Human Genetics, 2011
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.
Campos M et al.
Brain & Development, 2007