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Browsing by Subject "European Continental Ancestry Group"

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    • Article  

      COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century 

      Voskarides, Konstantinos; Patsias, Charalambos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2008)
      Mutations in the COL4A3/COL4A4 genes of type IV collagen account for about 40% of cases of thin basement membrane nephropathy, a condition that is estimated to affect 1% or more of the general population. We recently ...

    • Article  

      Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom [3] 

      Yiallouros, P. K.; Neocleous, Vassos; Zeniou, M.; Adamidou, Despoina; Costi, Constantina Eleni; Christophi, C.; Tzetis, M.; Kanavakis, E.; Constantinou-Deltas, Constantinos D. (2007)

    • Article  

      Low frequency of CCR5Δ32 allele among Greeks in Cyprus 

      Christodoulou, Chris C.; Poullikas, M.; Neumann, A. U.; Kostrikis, Leontios G. (1997)

    • Article  

      Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene 

      Feldman, M.; Prikis, Marios; Athanasiou, Yiannis; Elia, Avraam; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2006)
      The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect islinked to the renal ...

    • Article  

      The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failure 

      Koupepidou, P.; Constantinou-Deltas, Constantinos D.; Christofides, Tasos C.; Athanasiou, Yiannis; Zouvani, Ioanna; Pierides, Alkis M. (2005)
      Aim. The homozygous 677TT mutation of the MTHFR gene has been linked to deep vein thrombosis and to arterial atherosclerotic events of the coronary, carotid and peripheral arteries. Its putative association with renal ...

    • Article  

      The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failureAAA 

      Koupepidou, P.; Constantinou-Deltas, Constantinos D.; Christofides, Tasos C.; Athanasiou, Yiannis; Zouvani, Ioanna; Pierides, Alkis M. (2005)
      Aim. The homozygous 677TT mutation of the MTHFR gene has been linked to deep vein thrombosis and to arterial atherosclerotic events of the coronary, carotid and peripheral arteries. Its putative association with renal ...

    • Article  

      A polymorphism in the regulatory region of the CC-chemokine receptor 5 gene influences perinatal transmission of human immunodeficiency virus type 1 to African-American infants 

      Deutsch, L.; Kostrikis, Leontios G.; Neumann, A. U.; Thomson, B.; Korber, B. T.; McHardy, P.; Karanicolas, R.; Huang, Y.; Lew, J. F.; McIntosh, K.; Pollack, H.; Borkowsky, W.; Spiegel, H. M. L.; Palumbo, P.; Oleske, J.; Bardeguez, A.; Luzuriaga, K.; Sullivan, J.; Wolinsky, S. M.; Koup, R. A.; Ho, David D.; Moore, J. P. (1999)
      There are natural mutations in the coding and noncoding regions of the human immunodeficiency virus type (HIV-1) CC-chemokine coreceptor 5 (CCR5) and in the related CCR2 protein (the CCR2-64I mutation). Individuals homozygous ...

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