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Browsing by Subject "homozygosity"

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    • Article  

      Discovery of old diseases: The molecular approach [1] 

      Constantinou-Deltas, Constantinos D. (2003)

    • Article  

      Ets2 is necessary in trophoblast for normal embryonic anteroposterior axis development 

      Georgiades, Pantelis; Rossant, J. (2006)
      Although the trophoblast is necessary for the growth, viability and patterning of the mammalian embryo, understanding of its patterning role is still rudimentary. Expression of the transcription factor Ets2 is restricted ...

    • Article  

      Familial Mediterranean fever associated pyrin mutations in Greece 

      Print Email Konstantopoulos, Konstantinos; Kanta, Alexandra; Constantinou-Deltas, Constantinos D.; Atamian, V.; Mavrogianni, D.; Tzioufas, A. G.; Kollainis, I.; Ritis, K.; Moutsopoulos, H. M. (2003)
      Objective: To search for pyrin mutations associated with familial Mediterranean fever (FMF) in Greece. Patients and methods: 62 patients fulfilling the Tel Hashomer diagnostic criteria for definite (33) or probable (29) ...

    • 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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