Browsing by Author "Georgiou, Ioannis A."
Now showing items 1-4 of 4
-
Article
Erratum: Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus (American Journal Medical Genetics (1996) 64 (234-238))
Syrrou, Maria; Patsalis, Philippos C.; Georgiou, Ioannis A.; Hadjimarcou, Michael I.; Constantinou-Deltas, Constantinos D.; Pagoulatos, G. (1996)
-
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
Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population
Athanasiou, Yiannis; Voskarides, Konstantinos; Chatzikyriakidou, Anthoula L.; Ignatiou, Anastasia; Demosthenous, Panayiota; Elia, Avraam; Zavros, Michalis; Georgiou, Ioannis A.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2015)Background and Aims: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In ...
-
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 ...