• Article  

      Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease 

      Magistroni, R.; He, N.; Wang, K.; Andrew, R.; Johnson, A.; Gabow, P.; Dicks, E.; Parfrey, P.; Torra, R.; San-Millan, J. L.; Coto, E.; Van Dijk, M.; Breuning, M.; Peters, D.; Bogdanova, N.; Ligabue, G.; Albertazzi, A.; Hateboer, N.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D.; St. George-Hyslop, P.; Ravine, D.; Pei, Y. (2003)
      Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2, account for the disease in approximately 80 to ...
    • Article  

      X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5 

      Demosthenous, Panayiota; Voskarides, Konstantinos; Stylianou, Konstantinos G.; Hadjigavriel, Michalis; Arsali, Maria; Patsias, Charalambos; Georgaki, Eleni; Zirogiannis, P.; Stavrou, Christoforos V.; Daphnis, Eugenios K.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2012)
      The X-linked Alport syndrome (ATS) is caused by mutations in COL4A5 and exhibits a widely variable expression. Usually ATS is heralded with continuous microhematuria which rapidly progresses to proteinuria, hypertension ...