Browsing by Subject "genetic disorder"

Now showing items 1-3 of 3

    • Article  

      Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management - A KDIGO consensus report 

      Eckardt, K. -U; Alper, S. L.; Antignac, C.; Bleyer, A. J.; Chauveau, D.; Dahan, K.; Constantinou-Deltas, Constantinos D.; Hosking, A.; Kmoch, S.; Rampoldi, L.; Wiesener, M.; Wolf, M. T.; Devuyst, O. (2015)
      Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been ...
    • Article  

      The cypriot and Iranian National Mutation Frequency Databases. 

      Kleanthous, Marios; Patsalis, Philippos C.; Drousiotou, Anthi; Motazacker, M.; Christodoulou, Kyproula; Cariolou, Marios A.; Baysal, E.; Khrizi, K.; Moghimi, B.; Pourfarzad, F.; van Baal, S.; Constantinou-Deltas, Constantinos D.; Najmabadi, H.; Patrinos, G. P. (2006)
      The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the ...
    • Article  

      Discovery of old diseases: The molecular approach [1] 

      Constantinou-Deltas, Constantinos D. (2003)