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Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of neuropsychiatric phenotypes that overlap

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Reference: ORPHA319013 Abstract: Title: Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of overlapping neuropsychiatric phenotypes. Description: Since the discovery of MECP2 gene as mainly responsible for Rett Syndrome (SR) numerous studies have shown that there are mutations in this gene that does not produce the “classic”, but also in women … Read more

Characterization of mecp2 function in rett syndrome

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Reference: QLK2-CT-2002-51761 Abstract: Ret Syndrome, an important cause of mental retardation in women, is associated with mutations in the gene encoding methyl- Cog binding protein. The aim of this project is to identify target genes whose expression is altered as a result of Mapco mutations. PROJECT DETAILS  beginning: 2003. end: 2005. Country of research: Spain … Read more

EURORETT: European network on Rett syndrome

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Reference: ORPHA258004 Abstract: Rett syndrome (RS) is a neurological disorder primarily affecting girls, with an incidence of about 1/10,000 female births. It is a genetic disease, the second cause of severe mental retardation in women and a leading cause of postnatal neurodevelopmental regression. Rett syndrome is a model for autism-spectrum disorders and it is classified … Read more

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