Associated Papers
Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.
Chen E et al.
Genetics, 2025
Identification of intragenic variants in pediatric patients with intellectual disability in Peru.
Abarca-Barriga HH et al.
Bmc Medical Genomics, 2025
Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion.
Karaosmanoglu B et al.
Molecular Biology Reports, 2024
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.
Sheth F et al.
Bmc Neurology, 2023
MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.
Wen Y et al.
Bmc Medicine, 2023
Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline.
Kim JA et al.
Journal of Human Genetics, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X et al.
Molecular Genetics & Genomic Medicine, 2022
Expanding the clinico-molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies.
Iyer GR et al.
Annals of Human Genetics, 2022
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.
Ehrhart F et al.
Scientific Data, 2021
Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.
Bach S et al.
Scientific Reports, 2020
Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy.
Lee J et al.
Frontiers in Pharmacology, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
Xiol C et al.
Scientific Reports, 2019
Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.
Nasiri J et al.
Iranian Journal of Child Neurology, 2019
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation.
Wen Z et al.
Molecular Autism, 2017
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
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.
Das DK et al.
Gene, 2013
Molecular diagnostic dilemmas in Rett syndrome.
Zvereff V et al.
Brain & Development, 2012
Patients with Rett syndrome sustain low-energy fractures.
Roende G et al.
Pediatric Research, 2011
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.
Adegbola AA et al.
Human Genetics, 2009
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
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.
Kammoun F et al.
Journal of Medical Genetics, 2004
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