• Article  

      Autosomal dominant polycystic kidney disease - Type 2. Ultrasound, genetic and clinical correlations 

      Demetriou, Kyproula; Tziakouri, Chrysa H.; Anninou, Kristiana; Eleftheriou, Andri; Koptides, Michael; Nicolaou, Alexia; Constantinou-Deltas, Constantinos D.; Pierides, Alkis M. (2000)
      Background. Ultrasound, genetic and clinical correlations are available for ADPKD-1, but lacking for ADPKD-2. The present study was carried out to address: (i) the age-related diagnostic usefulness of ultrasound compared ...
    • Article  

      Click evoked neurogenic vestibular potentials (NVESTEPs): A method of assessing the function of the vestibular system 

      Papathanasiou, Eleftherios Stelios; Zamba-Papanicolaou, Eleni; Pantzaris, Marios C.; Kyriakides, Theodoros; Papacostas, Savvas S.; Myrianthopoulou, Panayiota; Pattichis, Constantinos S.; Iliopoulos, Ioannis Komotini; Piperidou, Charitomeni N. (2003)
      Objectives: To obtain neurogenic vestibular evoked potentials (NVESTEPs) with surface scalp recording using high intensity auditory clicks. The same stimulus is used in myogenic vestibular evoked potentials which has been ...
    • Article  

      Effect of recent thymic emigrants on progression of HIV-1 disease 

      Hatzakis, Angelos E.; Touloumi, G.; Karanicolas, R.; Karafoulidou, A.; Mandalaki, T.; Anastassopoulou, C. G.; Zhang, L.; Goedert, J. J.; Ho, David D.; Kostrikis, Leontios G. (2000)
      Background. The concentration of T-cell receptor-rearrangement excision DNA circles (TREC) in peripheral-blood T cells is a marker of recent thymic emigrant αβ T cells. We studied the predictive ability of measurements of ...
    • Article  

      Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees 

      Athanasiou, Yiannis; Voskarides, Konstantinos; Gale, D. P.; Damianou, Loukas; Patsias, Charalambos; Zavros, Michalis; Maxwell, P. H.; Cook, H. T.; Demosthenous, Panayiota; Hadjisavvas, Andreas; Kyriacou, Kyriacos C.; Zouvani, Ioanna; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2011)
      Background and objectives Complement factor H and related proteins (CFHR) are key regulators of the alternative complement pathway, where loss of function mutations lead to a glomerulopathy with isolated mesangial C3 ...
    • Article  

      Founder mutations in the ATP6V1B1 geneexplain most cypriot cases of distal renal tubular acidosis: First prenatal diagnosis 

      Elia, Avraam; Voskarides, Konstantinos; Demosthenous, Panayiota; Michalopoulou, A.; Malliarou, M. -A; Georgaki, Eleni; Athanasiou, Yiannis; Patsias, Charalambos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2011)
      Aims: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any ...
    • Article  

      Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population 

      Athanasiou, Yiannis; Voskarides, Konstantinos; Chatzikyriakidou, Anthoula L.; Ignatiou, Anastasia; Demosthenous, Panayiota; Elia, Avraam; Zavros, Michalis; Georgiou, Ioannis A.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2015)
      Background and Aims: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In ...
    • Article  

      Mutation analysis of coding sequences for type I procollagen in individuals with low bone density 

      Spotila, L. D.; Colige, A.; Sereda, L.; Constantinou-Deltas, Constantinos D.; Whyte, M. P.; Riggs, L. B.; Shaker, J. L.; Spector, T. D.; Hume, E.; Olsen, N.; Attie, M.; Tenenhouse, A.; Shane, E.; Briney, W.; Prockop, D. J. (1994)
      Mutations in one of the two genes encoding type I procollagen (COL1A1 and COL1A2) are frequently the cause of osteogenesis imperfecta (OI), a disorder characterized by brittle bones. Here we tested whether patients with ...
    • Article  

      Recent thymic emigrants and prognosis in T- and B-cell childhood hematopoietic malignancies 

      Petridou, E.; Klimentopoulou, A. E.; Moustaki, M.; Kostrikis, Leontios G.; Hatzakis, Angelos E.; Trichopoulos, D. (2002)
      The concentration of T-cell receptor rearrangement excision DNA circles (TRECs) in peripheral blood mononuclear cells (PBMCs) is currently known to be a marker of recent thymic emigrants. We evaluated the hypothesis that ...