Associated Papers
Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.
Chen E et al.
Genetics, 2025
Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.
Künzel R et al.
International Journal of Obesity (2005), 2025
Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.
Srinath S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Broadening the Phenotype Spectrum of MECP2 Variants in Men.
Lötjönen J et al.
Molecular Genetics & Genomic Medicine, 2025
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Inuzuka LM et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.
Bach S et al.
Scientific Reports, 2020
MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.
Sheikh TI et al.
Human Mutation, 2018
Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.
Curie A et al.
Psychiatric Genetics, 2017
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation.
Wen Z et al.
Molecular Autism, 2017
Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.
Lambert S et al.
European Journal of Medical Genetics, 2016
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
Bianciardi L et al.
Journal of Human Genetics, 2016
Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?
McWilliam C et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010
Clinical stringency greatly improves mutation detection in Rett syndrome.
Gauthier J et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2005
Rapid genotyping of common MeCP2 mutations with an electronic DNA microchip using serial differential hybridization.
Thistlethwaite WA et al.
The Journal of Molecular Diagnostics : Jmd, 2003
Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.
Lesca G et al.
European Journal of Medical Genetics, 0