M Plasilova

Summary

Affiliation: University of Basel
Country: Switzerland

Publications

  1. ncbi request reprint Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindred
    M 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
  2. pmc 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
  3. pmc Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome
    M Plasilova
    J Med Genet 41:609-14. 2004

Detail Information

Publications3

  1. ncbi request reprint Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindred
    M 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...
  2. pmc 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...
  3. pmc Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome
    M Plasilova
    J Med Genet 41:609-14. 2004