Reference: RES-145-28-1003 Abstract: INTRODUCTION: MECP2 mutations are identifiable in ~80% of classic Rett syndrome (RTT), but less frequently in atypical RTT. METHODS: We recruited 110 patients who fulfilled the diagnostic criteria for Rett syndrome and were referred to Cardiff for molecular analysis but in whom an MECP2 mutation was not identifiable. Dosage analysis of MECP2 … Read more
Reference: RES-145-28-1003 Abstract: PROJECT DETAILS beginning: 2002. end: 2006. Country of research: United Kingdom Counry of funding source: United Kingdom Funding organization: Economic and Social Research Council Shaping Society Financing: NATIONAL FUNDINGS – 0 € hyperlink
Reference: RES-145-28n.a.003 Abstract: PROJECT DETAILS beginning: 2007. end: 2013. Country of research: United Kingdom Counry of funding source: United Kingdom Funding organization: Economic and Social Research Council Shaping Society Financing: NATIONAL FUNDINGS – 0 € hyperlink
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
Reference: 503433 Abstract: In this ‘post-genomic’ era, advances in epigenetic research represent a new frontier that is predicted to yield novel insights for gene regulation, cell differentiation, stem cell plasticity, organismal development, human diseases, cancer, infertility and aging. A central emerging concept proposes that there is an ‘epigenetic code’, which considerably extends the information potential … Read more
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