Browsing by Subject "Mutations"

Now showing items 1-2 of 2

    • Article  

      Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families 

      Bouba, I.; Koptides, Michael; Mean, R.; Costi, Constantina Eleni; Demetriou, Kyproula; Georgiou, Ioannis A.; Pierides, Alkis M.; Siamopoulos, K.; Constantinou-Deltas, Constantinos D. (2001)
      The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1: 1000 individuals of the Caucasian population. The main symptom is the ...
    • Article  

      Targeting c-KIT, PDGFR in cancer of unknown primary: A screening study for molecular markers of benefit 

      Dova, L.; Pentheroudakis, George; Golfinopoulos, Vassilis; Malamou-Mitsi, Vassiliki D.; Georgiou, I.; Vartholomatos, G.; Ntemou, A.; Fountzilas, George; Pavlidis, Nicholas (2008)
      Aims: In view of available targeted therapies, we investigated the presence of c-kit, PDGFR gene mutations and protein expression in cancer of unknown primary (CUP) in order to study their contribution in pathogenesis, ...