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Browsing by Subject "haplotype"

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    • 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  

      COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century 

      Voskarides, Konstantinos; Patsias, Charalambos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2008)
      Mutations in the COL4A3/COL4A4 genes of type IV collagen account for about 40% of cases of thin basement membrane nephropathy, a condition that is estimated to affect 1% or more of the general population. We recently ...

    • Article  

      Contrasting frequencies of CCR5Δ32 and CCR2-64I alleles in the Tunisian population [1] 

      Barbouche, R. M.; Hong, L.; Dellagi, K.; Kostrikis, Leontios G. (2001)

    • Article  

      Cystic fibrosis patients from the black sea region: The 1677delTA mutation 

      Angelicheva, D.; Boteva, Kalina; Jordanova, A.; Savov, A.; Kufardjieva, A.; Tolun, A.; Telatar, M.; Akarsubaşi, A.; Köprübaşi, F.; Aydoǧdu, S.; Demirkol, M.; Kurdoǧlu, G.; Constantinou-Deltas, Constantinos D.; Georgiou, Christina; Dean, M.; Ivaschenko, T.; Baranov, V.; Kalaydjieva, L. (1994)
      A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. ...

    • Article  

      Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes 

      Voskarides, Konstantinos; Demosthenous, Panayiota; Papazachariou, Louiza; Arsali, Maria; Athanasiou, Yiannis; Zavros, Michalis; Stylianou, Konstantinos G.; Xydakis, D.; Daphnis, Eugenios K.; Gale, D. P.; Maxwell, P. H.; Elia, Avraam; Pattaro, C.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2013)
      Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes ...

    • 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  

      Global distribution of the CCR2-641/CCR5-59653T HIV-1 disease-protective haplotype 

      Martinson, J. J.; Hong, L.; Karanicolas, R.; Moore, J. P.; Kostrikis, Leontios G. (2000)
      Objectives: Several natural polymorphisms in the genes for the human CC-chemokine receptors CCR5 and CCR2 are associated with HIV-1 disease. The CCR2-641 genetic variant [a G to A substitution resulting in a valine (V) to ...

    • 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  

      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  

      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  

      Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region 

      Rüschendorf, F.; Fuchshuber, A.; Kroiss, S.; Karle, S.; Berthold, S.; Huck, K.; Burton, C.; Rahman, N.; Koptides, Michael; Constantinou-Deltas, Constantinos D.; Otto, E.; Feest, T.; Hildebrandt, F. (2001)
      Autosomal dominant medullary cystic kidney disease (MCKD) is an adult onset tubulointerstitial nephropathy that leads to salt wasting and end-stage renal failure. A gene locus (MCKD1) has been mapped on chromosome 1q21. ...

    • Article  

      Y-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements 

      Voskarides, Konstantinos; Mazières, S.; Hadjipanagi, Despina; Di Cristofaro, J.; Ignatiou, Anastasia; Stefanou, Charalambos; King, R. J.; Underhill, P. A.; Chiaroni, J.; Constantinou-Deltas, Constantinos D. (2016)
      Background: The archeological record indicates that the permanent settlement of Cyprus began with pioneering agriculturalists circa 11,000years before present, (ca. 11,000 y BP). Subsequent colonization events followed, ...

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