Browsing by Subject "Gene Frequency"

Now showing items 1-5 of 5

    • Article  

      Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met 

      Dardiotis, Efthymios; Koutsou, Pantelitsa; Zamba-Papanicolaou, Eleni; Vonta, Filia; Hadjivassiliou, Marilena; Hadjigeorgiou, Georgios M.; Cariolou, Marios A.; Christodoulou, Kyproula; Kyriakides, Theodoros (2009)
      Background: Familial amyloidotic polyneuropathy (FAP) TTR Val30Met is a lethal autosomal dominant sensorimotor and autonomic neuropathy due to a substitution of methionine for valine at position 30 of the transthyretin ...
    • 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  

      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  

      A polymorphism in the regulatory region of the CC-chemokine receptor 5 gene influences perinatal transmission of human immunodeficiency virus type 1 to African-American infants 

      Deutsch, L.; Kostrikis, Leontios G.; Neumann, A. U.; Thomson, B.; Korber, B. T.; McHardy, P.; Karanicolas, R.; Huang, Y.; Lew, J. F.; McIntosh, K.; Pollack, H.; Borkowsky, W.; Spiegel, H. M. L.; Palumbo, P.; Oleske, J.; Bardeguez, A.; Luzuriaga, K.; Sullivan, J.; Wolinsky, S. M.; Koup, R. A.; Ho, David D.; Moore, J. P. (1999)
      There are natural mutations in the coding and noncoding regions of the human immunodeficiency virus type (HIV-1) CC-chemokine coreceptor 5 (CCR5) and in the related CCR2 protein (the CCR2-64I mutation). Individuals homozygous ...
    • Article  

      Underexpression of the apolipoprotein E2 and E4 alleles in the Greek Cypriot population of Cyprus 

      Cariolou, Marios A.; Kokkofitou, Avgousta; Manoli, Panayiotis; Christou, Soteroulla; Karagrigoriou, Alex; Middleton, Lefkos T. (1995)
      Apolipoprotein E (APOE) plays an important role in the multifactorial etiology of both cardiovascular disease and Alzheimer's disease. Polymerase chain reaction (PCR) was used to investigate the APOE gene polymorphism in ...