Associated Papers
[Analysis of MECP2 gene variants and X chromosome inactivation in four children with Rett syndrome].
Wei C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis.
Brito F et al.
Frontiers in Genetics, 2024
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
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
van der Sanden BPGH et al.
European Journal of Human Genetics : Ejhg, 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
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Cooley Coleman JA et al.
American Journal of Medical Genetics. Part A, 2022
A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing.
Tuteja S et al.
Journal of Pathology Informatics, 2022
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
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Jiao Q et al.
Clinical Genetics, 2019
Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome.
Takeshita E et al.
Human Genome Variation, 2019
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
Bianciardi L et al.
Journal of Human Genetics, 2016
Select a paper to view details