Browsing by Author "Mean, R."
Now showing items 1-6 of 6
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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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Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease
Koptides, Michael; Mean, R.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2000)Polycystic kidney disease (ADPKD) is a condition with an autosomal dominant mode of inheritance and adult onset. Two forms of the disease, ADPKD1 and ADPKD2, caused by mutations in PKD1 and PKD2, respectively, are very ...
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Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients
Ritis, K.; Giaglis, Stavros; Spathari, N.; Micheli, A.; Zonios, D.; Tzoanopoulos, D.; Constantinou-Deltas, Constantinos D.; Rafail, S.; Mean, R.; Papadopoulos, Vassilios P.; Tzioufas, A. G.; Moutsopoulos, H. M.; Kartalis, G. (2004)Background: The MEFV gene is responsible for familial Mediterranean fever (FMF). Several disease associated mutations have been identified. The range of genetic variation in MEFV in Greek patients has not been determined. ...
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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 ...
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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
Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.
Koptides, Michael; Mean, R.; Demetriou, Kyproula; Constantinides, Rolandos; Pierides, Alkis M.; Harris, Peter C.; Constantinou-Deltas, Constantinos D. (2000)Mutations in the PKD1 gene account for approximately 85% of cases with autosomal dominant polycystic kidney disease (ADPKD1