Browsing by Author "Costi, Constantina Eleni"
Now showing items 1-4 of 4
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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)
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Article
Familial Mediterranean Fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus
Constantinou-Deltas, Constantinos D.; Mean, R.; Rossou, Elena; Costi, Constantina Eleni; Koupepidou, P.; Hadjiyanni, I.; Koptides, Michael; Hadjiroussos, V.; Petrou, P.; Pierides, Alkis M.; Lamnissou, Klea; Koptides, M. (2002)Familial Mediterranean Fever (FMF) is an autosomal recessive disease of high prevalence within Mediterranean countries and particularly common in four ethnic populations: Arabs, non-Ashkenazi Jews, Armenians, and Turks. ...
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Article
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families
Bouba, I.; Koptides, Michael; Mean, R.; Costi, Constantina Eleni; Demetriou, Kyproula; Georgiou, Ioannis A.; Pierides, Alkis M.; Siamopoulos, K.; Constantinou-Deltas, Constantinos D. (2001)The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1: 1000 individuals of the Caucasian population. The main symptom is the ...
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Article
RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2
Neocleous, Vassos; Skordis, Nicos A.; Portides, George; Efstathiou, Elisavet; Costi, Constantina Eleni; Ioannou, N.; Pantzaris, Marios C.; Anastasiadou, Violetta C.; Constantinou-Deltas, Constantinos D.; Phylactou, Leonidas A. (2011)Background: RET germline mutations predispose to the development of inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN2). Several variants of the RET proto-oncogene including G691S and S904S have been ...