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

by

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

Double dose against rare diseases

by

Reference: Abstract: Recently, two teams from CNRS have reported encouraging results in the fight against two rare diseases: “children of the moon” and Rett syndrome. PROJECT DETAILS  beginning: n.a end: n.a Country of research: France Counry of funding source: France Funding organization: National Center for Scientific Research Financing: NATIONAL FUNDINGS – 0 € hyperlink

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome

by

Reference: RES-145-28n.a.003 Abstract: We aimed to improve the understanding of genotypeﾖphenotype correlations in Rett syndrome (RS) by adopting a novel approach to categorising phenotypic dimensions ﾖ separating typicality of presentation, outcome severity and age of onset ﾖ and by classifyingﾠMECP2ﾠmutations strictly by predicted functional attributes.ﾠMECP2ﾠmutation screening results were available on 190 patients with a clinical … Read more

By continuing to use the site, you agree to the use of cookies. more information

The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.

Close