Browsing by Author "Xenophontos, Stavroulla L."
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New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: Evolution of alleles
Constantinides, Rolandos; Xenophontos, Stavroulla L.; Neophytou, Pavlos; Nomura, Shinsuke; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1997)The PKD1 gene, which is responsible for the most common form of autosomal dominant polycystic kidney disease, has recently been cloned and sequenced. Many disease-causing mutations have been characterized in this gene, ...
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Article
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
Mochizuki, Toshio; Wu, G.; Hayashi, Tomohito; Xenophontos, Stavroulla L.; Veldhuisen, B.; Saris, J. J.; Reynolds, D. M.; Cai, Y.; Gabow, P. A.; Pierides, Alkis M.; Kimberling, W. J.; Breuning, M. H.; Constantinou-Deltas, Constantinos D.; Peters, D. J. M.; Somlo, Stefan (1996)A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid ...
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Article
Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population
Xenophontos, Stavroulla L.; Hadjivassiliou, Marilena; Ayrton, N.; Karagrigoriou, Alex; Pantzaris, Marios C.; Nicolaïdes, Andrew N.; Cariolou, Marios A. (2002)Background. This study was performed to establish the allele, genotype and genotype combination/SNP (single nucleotide polymorphism) profile frequencies in the general population of Cyprus for 6 genes implicated in thrombotic ...
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Article
A translation frameshift mutation induced by a cytosine insertion in the Polycystic Kidney Disease 2 gene (PKD2)
Xenophontos, Stavroulla L.; Constantinides, Rolandos; Hayashi, Tomohito; Mochizuki, Toshio; Somlo, Stefan; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1997)Mutations in the PKD2 gene on the long arm of chromosome 4 are responsible for ~ 15% of cases of polycystic kidney disease. Perhaps the only difference from the more common ADPKD1 cases is the rate of progression of cystic ...