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The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients.

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Reference: Abstract: Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurological disorder, which affects mostly females. It is associated with mutations of the MECP2 gene, codifying for a methyl-CpG DNA binding protein of the MBDs family, sharing the common Methyl Binding Domain. MeCP2 binds single methylated CpG pair and brings transcriptional silencing to the … Read more

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

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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

Challenges of the use of next generation sequencing in clinical context: study in Rett syndrome and related neurodevelopmental phenotypes

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Reference: HMSP-ICS/0017/2011 Abstract: n.a PROJECT DETAILS  beginning: 2011. end: n.a Country of research: Portugal Counry of funding source: United States Funding organization: Framework of the Cooperation Agreement between Portugal and Harvard Medical School – 2011 Financing: NATIONAL FUNDINGS – 0 € hyperlink

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