Associated Papers
MECP2 Variants in Males: More Common than Previously Appreciated.
Ananth A et al.
Pediatric Neurology, 2024
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X et al.
Molecular Genetics & Genomic Medicine, 2022
35318820 (PubMed )
Supplement: MGG3-10-e1917-s002.xlsx › Sheet1
Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation.
Cacciatori E et al.
American Journal of Medical Genetics. Part A, 2020
A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy.
Soffer OD et al.
American Journal of Medical Genetics. Part A, 2016
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
Zhang J et al.
Clinical Genetics, 2012
A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.
Jülich K et al.
The Journal of Pediatrics, 2009
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.
Schüle B et al.
Clinical Genetics, 2008
Mechanisms of disease: neurogenetics of MeCP2 deficiency.
Francke U
Nature Clinical Practice. Neurology, 2006
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
Miltenberger-Miltenyi G et al.
Human Mutation, 2003
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.
Yaron Y et al.
Human Mutation, 2002
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