Results 131 to 140 of about 18,028 (242)

Rett syndrome: Prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders

, 2007
Rett syndrome is an X-linked dominant neurodevelopmental disorder. Mutation of the methyl-CpG-binding protein 2 gene (MECP2) is present in up to 96% of patients with Rett syndrome.
Li, SYH, Wong, VCN
core   +1 more source

Genetic Aspects of Rett Syndrome

, 1988
To date over 1,000 cases of Rett syndrome have been described in females exclusively. Some of these cases, less than 2 in 100, are familial. The inheritance through maternal lines in the familial cases suggests that Rett syndrome is an X-linked disorder
Huda Zoghbi
core   +1 more source

The Nutritional Aspects of Rett Syndrome

, 1988
Nutrition is a major problem for the Rett patient. We have studied 21 girls with Rett syndrome (19 typical, two atypical). We report our experience in this population with the nutritional aspects of Rett syndrome, the typical dietary habits, and various ...
Marylynne A. Rice, Richard H. Haas
core   +1 more source

Fetal alcohol syndrome in association with Rett syndrome

, 2004
Fetal alcohol syndrome in association with RETT syndrome: We report on a girl with neonatal dystrophy, microcephaly, heart defect, and the characteristic features of alcohol embryopathy.
Bartels, I., Zoll, Barbara, Wessel, Alok D., Huppke, Peter, Laccone, Franco A.   +4 more
core   +1 more source

Lingual Dyskinesia as the Presenting Feature of Acquired Demyelinating Syndrome: A Case Report and Review of Differential Diagnoses

Journal of Paediatrics and Child Health, Volume 62, Issue 6, Page 1060-1065, June 2026.
Briana Davis, Ahmed Kaki, Eppie M. Yiu, Emma Macdonald‐Laurs   +3 more
wiley   +1 more source

Erratum: Rett Syndrome [PDF]

Neuropediatrics, 2018
openaire   +2 more sources

Toward an NGF-based therapy for Rett syndrome. [PDF]

Front Neurosci
Borgonovo G, Tiberi A, Capsoni S, Cattaneo A.   +3 more
europepmc   +1 more source

Mecp2 deficiency induces dysphagia in a preclinical model of Rett syndrome. [PDF]

Proc Natl Acad Sci U S A
Oliveira LM, Aslam MS, Ramirez JM, Huff AD.   +3 more
europepmc   +1 more source

Review of Rett Syndrome [PDF]

Journal of Neuropathology and Experimental Neurology, 1997
openaire   +2 more sources

Investigating the sex- and developmental-dependent molecular and gross characterization of the brain of two mouse models of Rett Syndrome

Methyl-CpG-binding protein 2 (MeCP2) is a multifunctional protein involved in neurogenesis, synaptogenesis, and activity-dependent gene expression in the brain.
Roberts, Chris-Tiann
core