Browsing by Author "Neocleous, Vassos"
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Report
Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11
Neocleous, Vassos; Yiallouros, Panayiotis K.; Tanteles, George A.; Costi, Constantina; Moutafi, Maria; Ioannou, Phivos; Patsalis, Philippos C.; Sismani, Carolina; Phylactou, Leonidas A. (Hindawi Limited, 2014)We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4-11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both ...
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Article
COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy
Voskarides, Konstantinos; Damianou, Loukas; Neocleous, Vassos; Zouvani, Ioanna; Christodoulidou, Stalo; Hadjiconstantinou, Valsamakis E.; Ioannou, Kyriakos; Athanasiou, Yiannis; Patsias, Charalambos; Alexopoulos, Efstathios; Pierides, Alkis M.; Kyriacou, Kyriacos C.; Constantinou-Deltas, Constantinos D. (2007)Mutations in the COL4A3/COL4A4 genes of type IV collagen have been found in ∼40% of cases of thin basement membrane nephropathy, which is characterized by microscopic hematuria and is classically thought to cause proteinuria ...
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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
Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom [3]
Yiallouros, Panayiotis K.; Neocleous, Vassos; Zenios, Michalis; Adamidou, D.; Costi, Constantina; Christophi, C.; Tzetis, M.; Kanavakis, E.; Deltas, Constantinos (2007)
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Article
Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation
Neocleous, Vassos; Passalaris, T.; Spanou, E.; Kitsios, P.; Skordis, Nicos A.; Constantinou-Deltas, Constantinos D. (2004)Germ-line mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma (FMTC). 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 ...