DHPLC analysis of the MECP2 gene in Italian Rett patients

Reference: Abstract: Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which almost exclusively affects girls, with an estimated prevalence of one in 10,000-15,000 female births. Mutations in the methyl CpG binding protein 2 gene (MECP2) have been identified in roughly 75% of classical Rett girls. The vast majority of Rett cases (99%) are sporadic … Read more

Developmental Control of Gene Expression

Reference: 864.03.002 Abstract: One of the most profound and intriguing questions in biology concerns the relationship between genetic diversity and the morphology and biology of different species. The key to understanding this relationship will be found in uncovering the contribution of gene family members to the development of organisms. In recent years it has become … Read more

Determination of the kinetic behaviour of methyl-CpG-binding proteins MeCP2 and MBD1 in living cells by applying fluorescence recovery after photobleaching (FRAP)

Reference: Abstract: PROJECT DETAILS  beginning: 2004. end: 2006. Country of research: Germany Counry of funding source: Germany Funding organization: GermanᅠResearch Foundation Financing: NATIONAL FUNDINGS – 0 € hyperlink

Creating conditions : the making and re-making of a genetic syndrome

Reference: RES-145-28-1003 Abstract: Based on original ethnographic research with scientists, clinicians and families, this book examines Rett syndrome to illuminate more general issues concerning the construction and interpretation of diseases and syndromes. It derives from research with a specialist team of clinicians and scientists, and a series of families referred with a potential diagnosis of … Read more

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