Associated Papers
Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.
Chen E et al.
Genetics, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Identification of mutations in five Pakistani families with Epilepsy.
Ahsan N et al.
Neurogenetics, 2025
Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.
Sabau IM et al.
International Journal of Molecular Sciences, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Diagnostic findings and yield of investigations for children with developmental regression.
Furley K et al.
American Journal of Medical Genetics. Part A, 2024
Multi-omics in MECP2 duplication syndrome patients and carriers.
Pascual-Alonso A et al.
The European Journal of Neuroscience, 2024
Co-Occurring Methylenetetrahydrofolate Reductase (MTHFR) rs1801133 and rs1801131 Genotypes as Associative Genetic Modifiers of Clinical Severity in Rett Syndrome.
Singh J et al.
Brain Sciences, 2024
Endocrine disorders in Rett syndrome: a systematic review of the literature.
Pepe G et al.
Frontiers in Endocrinology, 2024
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.
Pascual-Alonso A et al.
Human Genomics, 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
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X et al.
Molecular Genetics & Genomic Medicine, 2022
Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.
Peron A et al.
Journal of Medical Genetics, 2022
Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.
Bach S et al.
Scientific Reports, 2020
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
Sobering AK et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
Sphingolipid Metabolism Perturbations in Rett Syndrome.
Cappuccio G et al.
Metabolites, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
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
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome.
Kharrat M et al.
Acta Neurologica Belgica, 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
Molecular characteristics of Chinese patients with Rett syndrome.
Zhang X et al.
European Journal of Medical Genetics, 2012
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
[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].
Li MR et al.
Zhonghua Yi Xue Za Zhi, 2009
[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome].
Li MR et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
Li MR et al.
Journal of Human Genetics, 2007
[MECP2 gene mutations in twenty-six cases with atypical Rett syndrome].
Li MR et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006
Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories.
Schollen E et al.
Human Mutation, 2005
Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.
Chae JH et al.
Journal of Child Neurology, 2004
[Clinical feature of Rett syndrome and MeCP2 genotype/phenotype correlation analysis].
Bao XH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004
DHPLC analysis of the MECP2 gene in Italian Rett patients.
Nicolao P et al.
Human Mutation, 2001
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.
Trappe R et al.
American Journal of Human Genetics, 2001
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.
Bourdon V et al.
Human Genetics, 2001
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
Vacca M et al.
Journal of Molecular Medicine (berlin, Germany), 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
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
Philippe C et al.
European Journal of Medical Genetics, 0