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Browsing by Subject "mutational analysis"

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    • 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  

      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  

      Medullary cystic kidney disease type 1: Mutational analysis in 37 genes based on haplotype sharing 

      Wolf, M. T. F.; Mucha, B. E.; Hennies, H. C.; Attanasio, M.; Panther, F.; Zalewski, I.; Karle, S. M.; Otto, E. A.; Constantinou-Deltas, Constantinos D.; Fuchshuber, A.; Hildebrandt, F. (2006)
      Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt wasting and end-stage renal failure in the fourth to seventh decade of life. MCKD1 was localized ...

    • 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  

      Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1 

      Koptides, Michael; Mean, R.; Stavrou, Christoforos V.; Pierides, Alkis M.; Demetriou, Kyproula; Nakayama, T.; Hildebrandt, F.; Fuchshuber, A.; Constantinou-Deltas, Constantinos D. (2001)
      Autosomal dominant medullary cystic kidney disease (ADMCKD) is an adult-onset heterogeneous genetic nephropathy characterized by salt wasting and end-stage renal failure. The gene responsible for ADMCKD-1 was mapped on ...

    • Article  

      NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome 

      Voskarides, Konstantinos; Makariou, Christiana; Papagregoriou, Gregory N.; Stergiou, Nikolaos; Printza, Nikoleta G.; Alexopoulos, Efstathios; Elia, Avraam; Papachristou, Fotios Th; Pierides, Alkis M.; Georgaki, Eleni; Constantinou-Deltas, Constantinos D. (2008)

    • Article  

      On 'Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations' 

      Voskarides, Konstantinos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2013)

    • Article  

      Thin basement membrane nephropathy: Is there genetic predisposition to more severe disease? 

      Constantinou-Deltas, Constantinos D. (2009)

    • Article  

      Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1 

      Bleyer, A. J.; Kmoch, S.; Antignac, C.; Robins, V.; Kidd, K.; Kelsoe, J. R.; Hladik, G.; Klemmer, P.; Knohl, S. J.; Scheinman, S. J.; Vo, N.; Santi, A.; Harris, A.; Canaday, O.; Weller, N.; Hulick, P. J.; Vogel, K.; Rahbari-Oskoui, F. F.; Tuazon, J.; Constantinou-Deltas, Constantinos D.; Somers, D.; Megarbane, A.; Kimmel, P. L.; Sperati, C. J.; Orr-Urtreger, A.; Ben-Shachar, S.; Waugh, D. A.; Mcginn, S.; Bleyer Jr., A. J.; Hodaňová, K.; Vyletal, P.; Živná, M.; Hart, T. C.; Hart, P. S. (2014)
      Background and objectives The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a ...

    • Article  

      X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure 

      Pierides, Alkis M.; Voskarides, Konstantinos; Kkolou, Maria; Hadjigavriel, Michalis; Constantinou-Deltas, Constantinos D. (2013)
      Alport syndrome (ATS) results from X-linked, COL4A5 mutations (85%) or from autosomal recessive homozygous or compound heterozygous COL4A3/A4 mutations (15%), associated with alternate thinning and thickening as well as ...

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