Browsing by Subject "Family Health"

Now showing items 1-3 of 3

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

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

Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region

Rüschendorf, F.; Fuchshuber, A.; Kroiss, S.; Karle, S.; Berthold, S.; Huck, K.; Burton, C.; Rahman, N.; Koptides, Michael; Constantinou-Deltas, Constantinos D.; Otto, E.; Feest, T.; Hildebrandt, F. (2001)

Autosomal dominant medullary cystic kidney disease (MCKD) is an adult onset tubulointerstitial nephropathy that leads to salt wasting and end-stage renal failure. A gene locus (MCKD1) has been mapped on chromosome 1q21. ...

Browsing by Subject "Family Health"

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

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

Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region ﻿

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

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

Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region