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Browsing by Subject "Linkage analysis"

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    • Article  

      Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot familiesAAA 

      Stavrou, Christoforos V.; Koptides, Michael; Tombazos, C.; Psara, E.; Patsias, Charalambos; Zouvani, Ioanna; Kyriacou, Kyriacos C.; Hildebrandt, F.; Christofides, Tasos C.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2002)
      Background. Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently attracted attention because of the cloning or mapping of certain gene loci, namely NPHP1, ...

    • Article  

      Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1 

      Stavrou, Christoforos V.; Pierides, Alkis M.; Zouvani, Ioanna; Kyriacou, Kyriacos C.; Antignac, C.; Neophytou, Pavlos; Christodoulou, Kyproula; Constantinou-Deltas, Constantinos D. (1998)
      We describe a large Cypriot family with an interstitial type of nephropathy, inherited as an autosomal dominant trait that led to end stage renal failure between 51 to 78 years of age (mean 62.2 years). Twenty-three people ...

    • Article  

      Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families 

      Constantinou-Deltas, Constantinos D.; Christodoulou, Kyproula; Tjakouri, C.; Pierides, Alkis M. (1996)
      Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. ...

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