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Molecular biologickáanalýza MECP2 gene in patients with Rettovýmsyndromem

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Reference: 301/01/P068 Abstract: ProjektGA CR 301/01/P068 focused on molecular-biological analysis MeCP2genu. Its defect leads to clinical manifestations of Rett syndrome (RS) (OMIM312750), which is the second most common cause of mental retardation dívek.Dědičnost RS gonosomal dominant with incidence approximately 1 to 000 10000-15; vast majority of mutations created de novo. MECP2 gene, described in 1999, … Read more

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome

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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

Downstream Effects of MECP1 Mutations in Rett Syndrome and other forms of X-linked mental retardation Studied by cDNA arrays (C 3)

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Reference: C3 – Subproject to SFB 577: Molecular Basis of Clinical variability in Mendelian Disorders Abstract: PROJECT DETAILS  beginning: 2001. end: 2004. Country of research: Germany Counry of funding source: Germany Funding organization: GermanﾠResearch Foundation Financing: NATIONAL FUNDINGS – 0 € hyperlink

DHPLC analysis of the MECP2 gene in Italian Rett patients

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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

Functional variants of the 5q31 chromosome region: connections between polygenic diseases and the carnitine system.

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Reference: 73430 Abstract: The study design is the natural extension of our previous research works that had already been supported (www.humangenom.hu, www.eurosca.org). It is clear nowadays, that the functions of the carnitine are not restricted to the role of the oxidation of the long-chain fatty acids. The main direction of the planned research is the … Read more

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