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Browsing by Subject "clinical article"

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    • Article  

      The A and B fragments of normal type I procollagen have a similar thermal stability to proteinase digestion but are selectively destabilized by structural mutations 

      Constantinou-Deltas, Constantinos D.; VOGEL, B. E.; JEFFREY, J. J.; PROCKOP, D. J. (1987)
      Previous studies demonstrated that the thermal stability of the procollagen triple helix can be assayed by digesting the protein for short periods with high concentrations of trypsin and chymotrypsin. Here we cleaved human ...

    • Article  

      Autosomal dominant medullary cystic kidney disease: Evidence of gene locus heterogeneity 

      Fuchshuber, A.; Constantinou-Deltas, Constantinos D.; Berthold, S.; Stavrou, Christoforos V.; Vollmer, M.; Burton, C.; Feest, T.; Krieter, D.; Gal, A.; Brandis, M.; Pierides, Alkis M.; Hildebrandt, F. (1998)
      Autosomal dominant medullary cystic kidney disease (ADMCKD

    • Article  

      A correlative study of quantitative EMG and biopsy findings in 31 patients with myopathies 

      Dardiotis, Efthymios; Papathanasiou, Eleftherios Stelios; Vonta, Filia; Hadjigeorgiou, Georgios M.; Zamba-Papanicolaou, Eleni; Kyriakides, Theodoros (2011)
      A direct correlation of QEMG with muscle biopsy findings might help delineate the sensitivity of QEMG in identifying muscle pathology as well as provide information on electrophysiological-histological correlations. In a ...

    • Article  

      Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation 

      Neocleous, Vassos; Passalaris, T.; Spanou, E.; Kitsios, P.; Skordis, Nicos A.; Constantinou-Deltas, Constantinos D. (2004)
      Germ-line mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma (FMTC). The ...

    • Article  

      Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease 

      Neophytou, Pavlos; Constantinides, Rolandos; Lazarou, Akis; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1996)
      Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. After the recent characterization of the gene, we started a search for ...

    • Article  

      Efficient training of neural network models in classification of electromyographic data 

      Pattichis, Constantinos S.; Charalambous, Chris; Middleton, Lefkos T. (1995)

    • Article  

      Emergence of Minor Populations of Human Immunodeficiency Virus Type 1 Carrying the M184V and L90M Mutations in Subjects Undergoing Structured Treatment Interruptions 

      Metzner, K. J.; Bonhoeffer, S.; Fischer, M.; Karanicolas, R.; Allers, K.; Joos, B.; Weber, R.; Hirschel, B.; Kostrikis, Leontios G.; Günthard, H. F. (2003)
      The use of structured treatment interruption (STI) in human immunodeficiency virus (HIV)-infected subjects is currently being studied as an alternative therapeutic strategy for HIV-1. The potential risk for selection of ...

    • 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  

      Evidence of two distinct subsubtypes within the HIV-1 subtype A radiation 

      Gao, F.; Vidal, N.; Li, Y.; Trask, S. A.; Chen, Y.; Kostrikis, Leontios G.; Ho, David D.; Kim, J.; Oh, M. -D; Choe, K.; Salminen, M.; Robertson, D. L.; Shaw, G. M.; Hahn, B. H.; Peeters, M. (2001)
      Members of HIV-1 group M are responsible for the vast majority of AIDS cases worldwide and have been classified on the basis of their phylogenetic relationships into nine roughly equidistant clades, termed subtypes. Although ...

    • Article  

      A family with the branchio-oto-renal syndrome: Clinical and genetic correlations 

      Pierides, Alkis M.; Athanasiou, Yiannis; Demetriou, Kyproula; Koptides, Michael; Constantinou-Deltas, Constantinos D. (2002)
      Background. The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to 40% ...

    • 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  

      Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease 

      Koptides, Michael; Mean, R.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2000)
      Polycystic kidney disease (ADPKD) is a condition with an autosomal dominant mode of inheritance and adult onset. Two forms of the disease, ADPKD1 and ADPKD2, caused by mutations in PKD1 and PKD2, respectively, are very ...

    • Article  

      Hepatitis C infection among intravenous drug users attending therapy programs in Cyprus 

      Demetriou, Victoria L.; Van De Vijver, D. A. M. C.; Hezka, Johana; Kostrikis, Leontios G.; Savvopoulou, Natasa; Georgiades, Neoklis; Charilaou, Charis C.; Argyriou, Argyris; Pavlou, Tina; Platritis, Kyriakos; Veresies, Kyriakos L. (2010)
      The most high-risk population for HCV transmission worldwide today are intravenous drug users. HCV genotypes in the general population in Cyprus demonstrate a polyphyletic infection and include subtypes associated with ...

    • Article  

      HIV-specific cytotoxic T lymphocytes, HLA-A11, and chemokine-related factors may act synergistically to determine HIV resistance in CCR5 Δ32-negative female sex workers in Chiang Rai, northern Thailand 

      Sriwanthana, B.; Hodge, T.; Mastro, T. D.; Dezzutti, C. S.; Bond, K.; Stephens, H. A. F.; Kostrikis, Leontios G.; Limpakarnjanarat, K.; Young, N. L.; Qari, S. H.; Lal, R. B.; Chandanayingyong, D.; McNicholl, J. M. (2001)
      Understanding how highly HIV-exposed individuals remain HIV uninfected may be useful for HIV vaccine design and development of new HIV prevention strategies. To elucidate mechanisms associated with resistance to HIV ...

    • Article  

      Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1 

      Stavrou, Christoforos V.; Pierides, Alkis M.; Zouvani, Ioanna; Kyriacou, Kyriacos C.; Antignac, C.; Neophytou, Pavlos; Christodoulou, Kyproula; Constantinou-Deltas, Constantinos D. (1998)
      We describe a large Cypriot family with an interstitial type of nephropathy, inherited as an autosomal dominant trait that led to end stage renal failure between 51 to 78 years of age (mean 62.2 years). Twenty-three people ...

    • 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  

      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  

      Multi-scale AM-FM analysis for the classification of surface electromyographic signals 

      Christodoulou, Christodoulos I.; Kaplanis, P. A.; Murray, V.; Pattichis, Marios S.; Pattichis, Constantinos S.; Kyriakides, Theodoros (2012)
      In this work, multi-scale amplitude modulation-frequency modulation (AM-FM) features are extracted from surface electromyographic (SEMG) signals and they are used for the classification of neuromuscular disorders. The ...

    • 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  

      Neural Network Models in EMG Diagnosis 

      Pattichis, Constantinos S.; Schizas, Christos N.; Middleton, Lefkos T. (1995)
      In the past years, several computer-aided quantitative motor unit action potential (MUAP) techniques were reported. It is now possible to add to these techniques the capability of automated medical diagnosis so that all ...

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