British Isles Rett Syndrome Survey

Reference: Angus Clarke Abstract: The British Isles Rett Syndrome Survey (BIRSS) was established by Dr Alison Kerr at Glasgow University in 1982. Since 2005, it has been based at Cardiff University under the supervision of Professor Angus Clarke. Funded by Rett UK the main aim is to monitor the health of people with Rett syndrome … Read more

Extending genotype-phenotype studies of Rett syndrome using the British Isles Rett Survey database and the Rett Syndrome Behaviour Question

Reference: Dr MarkᅠBailey Abstract: n.a PROJECT DETAILS  beginning: 2005. end: 2006. Country of research: United Kingdom Counry of funding source: United Kingdom Funding organization: Rett Syndrome Association Scotland Financing: PRIVATE FUNDERS – 0 € hyperlink

Neurobiology of Rett’s syndrome: cellular etiology and experimental therapeutic strategies in an animal model

Reference: GGP05236 Abstract: Rett syndrome is a major cause of mental retardation, second only to the incidence of Down syndrome, and occurs almost exclusively in females. This disease manifests itself after a period of apparently normal development and causes growth retardation, severe psychomotor and autistic-like behaviors . The majority of cases of Rett syndrome is … Read more

Molecular dissection of two human chromatin diseases, Rett syndrome and icf syndrome

Reference: GGP02308 Abstract: Failure of correct gene expression underlies many human genetic disorders. In monogenic disorders, altered expression of a single gene can result from loss of the gene and/or modification of regulative control of gene expression. A class of monogenic disorders presents mutations of factors which mediate gene regulation, that can regulate more target … Read more

Cell line and DNA bank of Rett syndrome and other x-linked mental retardation

Reference: GTF02006 Abstract: Mental retardation (MR) is the most frequent cause of serious handicap in humans with an estimated total prevalence of 1-1,5% in the general population. It is calculated that X-linked MR (XLMR) may account for about 20-25% of mentally retarded males. Up to now, 42 genes have been found involved in XLMR, comprising … Read more

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