Associated Papers
Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.
Chen E et al.
Genetics, 2025
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X et al.
Molecular Genetics & Genomic Medicine, 2022
MECP2-Related Disorders in Males.
Pascual-Alonso A et al.
International Journal of Molecular Sciences, 2021
First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with angelman-like syndrome.
Kharrat M et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 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
Novel double deletions in the MECP2 gene in Tunisian Rett patient.
Fendri-Kriaa N et al.
Gene, 2012
A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.
Fendri-Kriaa N et al.
Biochemical and Biophysical Research Communications, 2011
Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.
Fendri-Kriaa N et al.
Journal of Child Neurology, 2010
Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.
Psoni S et al.
Pediatric Research, 2010
Multiple de novo mutations in the MECP2 gene.
Bunyan DJ et al.
Genetic Testing, 2008
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
Miltenberger-Miltenyi G et al.
Human Mutation, 2003
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
Laccone F et al.
Human Mutation, 2001
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
Buyse IM et al.
American Journal of Human Genetics, 2000
R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report.
Bouzroud W et al.
Clinical Pathology (thousand Oaks, Ventura County, Calif.), 0