Affiliation: University of Basel
- Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindredM Plasilova
Research Group Human Genetics, Division of Medical Genetics, University Children s Hospital, Department of Research and Clinico Biological Sciences, Vesalgasse1, 4031 Basel, Switzerland
Eur J Hum Genet 12:365-71. 2004..Our results do not eliminate 1p33-36 from suspicion in other families, but clearly indicate that in our family linkage analysis of further putative candidate regions is necessary to identify a disease modifier locus in FAP...
- Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS)Martina Plasilova
Research Group Human Genetics, Department of Biomedicine, University of Basel, and Division of Medical Genetics, University Children s Hospital, Basel, Switzerland
PLoS ONE 6:e21433. 2011..Finally, this study correlates reduced TWIST2 and OPG expression with increased osteocalcin levels, thereby linking altered bone remodeling to energy homeostasis in hereditary HGPS...
- Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndromeM Plasilova
J Med Genet 41:609-14. 2004