Browsing by Subject "Genetic Markers"

Now showing items 1-7 of 7

    • Article  

      Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD) 

      Christodoulou, Kyproula; Tsingis, Marios; Stavrou, Christoforos V.; Eleftheriou, Andri; Papapavlou, Petros; Patsalis, Philippos C.; Ioannou, Panayiotis A.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1998)
      There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial juvenile nephronophthisis, FJN) or by adult onset dominant inheritance (medullary cystic disease, ...
    • Article  

      A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics 

      Mizzi, C.; Dalabira, E.; Kumuthini, J.; Dzimiri, N.; Balogh, István; Başak, N.; Böhm, R.; Borg, J.; Borgiani, P.; Bozina, N.; Bruckmueller, H.; Burzynska, B.; Carracedo, A.; Cascorbi, I.; Constantinou-Deltas, Constantinos D.; Dolzan, V.; Fenech, A.; Grech, G.; Kasiulevicius, V.; Kádaši, L.; Kučinskas, V.; Khusnutdinova, E.; Loukas, Y. L.; Macek, M.; Makukh, H.; Mathijssen, R.; Mitropoulos, K.; Mitropoulou, C.; Novelli, G.; Papantoni, I.; Pavlovic, S.; Saglio, G.; Setric, J.; Stojiljkovic, M.; Stubbs, A. P.; Squassina, A.; Torres, M.; Turnovec, M.; Van Schaik, R. H.; Voskarides, Konstantinos; Wakil, S. M.; Werk, A.; Zompo, M. D.; Zukic, B.; Katsila, T.; Lee, M. T. M.; Motsinger-Rief, A.; Leod, H. L. M.; Van Der Spek, P. J.; Patrinos, G. P. (2016)
      Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved in drug ...
    • Article  

      Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the hellenic population of Greece and Cyprus 

      Syrrou, Maria; Patsalis, Philippos C.; Georgiou, Ioannis A.; Hadjimarcou, Michael I.; Constantinou-Deltas, Constantinos D.; Pagoulatos, G. (1996)
      The expansion of the trinucleotide repeat (CGG)n in successive generations through maternal meiosis is the cause of fragile X syndrome. Analysis of CA repeat polymorphisms flanking the FMR-1 gene provides evidence of a ...
    • Article  

      Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families 

      Constantinou-Deltas, Constantinos D.; Papageorgiou, Elena; Boteva, Kalina; Christodoulou, Kyproula; Breuning, M. H.; Peters, D. J. M.; Pierides, Alkis M. (1995)
      Polycystic kidney disease is an inherited heterogeneous disorder that affects approximately 1:1000 Europeans. It is characterized mainly by the formation of cysts in the kidney that lead to end-stage renal failure with ...
    • Article  

      Greek Cypriot allele and genotype frequencies for amplitype® PM-DQA1 and D1S80 loci 

      Cariolou, Marios A.; Manoli, Panayiotis; Christoforou, Maria; Bashiardes, Evy; Karagrigoriou, Alex; Budowle, Bruce (1998)
      A sample from the Greek Cypriot population was typed at seven forensically important PCR-based loci: LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, and D1S80. The results showed that all loci meet Hardy-Weinberg expectations and ...
    • 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. ...
    • Article  

      Weak evidence for allelic association in the cypriot PKD1 population. 

      Constantinou-Deltas, Constantinos D.; Papageorgiou, Elena; Boteva, Kalina; Christodoulou, Kyproula; Pierides, Alkis M. (1995)