Browsing by Subject "clinical feature"

Article

Autosomal dominant medullary cystic kidney disease: Evidence of gene locus heterogeneity

Fuchshuber, A.; Constantinou-Deltas, Constantinos D.; Berthold, S.; Stavrou, Christoforos V.; Vollmer, M.; Burton, C.; Feest, T.; Krieter, D.; Gal, A.; Brandis, M.; Pierides, Alkis M.; Hildebrandt, F. (1998)

Autosomal dominant medullary cystic kidney disease (ADMCKD

Article

Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management - A KDIGO consensus report

Eckardt, K. -U; Alper, S. L.; Antignac, C.; Bleyer, A. J.; Chauveau, D.; Dahan, K.; Constantinou-Deltas, Constantinos D.; Hosking, A.; Kmoch, S.; Rampoldi, L.; Wiesener, M.; Wolf, M. T.; Devuyst, O. (2015)

Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been ...

Article

Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot familiesAAA

Stavrou, Christoforos V.; Koptides, Michael; Tombazos, C.; Psara, E.; Patsias, Charalambos; Zouvani, Ioanna; Kyriacou, Kyriacos C.; Hildebrandt, F.; Christofides, Tasos C.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2002)

Background. Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently attracted attention because of the cloning or mapping of certain gene loci, namely NPHP1, ...

Article

C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in cyprus: Clinical and molecular findings in 21 families

Constantinou-Deltas, Constantinos D.; Gale, D.; Cook, T.; Voskarides, Konstantinos; Athanasiou, Yiannis; Pierides, Alkis M. (2013)

Microscopic haematuria is the presenting symptom of several conditions, either heritable or acquired. A well-recognized familial condition is Alport syndrome, either of X-linked or autosomal recessive inheritance, as well ...

Article

Discovery of old diseases: The molecular approach [1]

Constantinou-Deltas, Constantinos D. (2003)

Article

Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus

Dardiotis, Efthymios; Koutsou, Pantelitsa; Papanicolaou, Eleni Zamba; Vonta, Filia; Kladi, Angelica; Vassilopoulos, Dimitrios C.; Hadjigeorgiou, Georgios M.; Christodoulou, Kyproula; Kyriakides, Theodoros (2009)

Objectives. To define the incidence and prevalence of familial amyloidotic polyneuropathy (FAP) TTRVal30Met on the island of Cyprus. To study the clinical phenotype and genetic features of FAP TTRVal30Met in the Cypriot ...

Article

Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees

Athanasiou, Yiannis; Voskarides, Konstantinos; Gale, D. P.; Damianou, Loukas; Patsias, Charalambos; Zavros, Michalis; Maxwell, P. H.; Cook, H. T.; Demosthenous, Panayiota; Hadjisavvas, Andreas; Kyriacou, Kyriacos C.; Zouvani, Ioanna; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2011)

Background and objectives Complement factor H and related proteins (CFHR) are key regulators of the alternative complement pathway, where loss of function mutations lead to a glomerulopathy with isolated mesangial C3 ...

Article

A family with the branchio-oto-renal syndrome: Clinical and genetic correlations

Pierides, Alkis M.; Athanasiou, Yiannis; Demetriou, Kyproula; Koptides, Michael; Constantinou-Deltas, Constantinos D. (2002)

Background. The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to 40% ...

Article

Molecular characterization of HIV type 1 strains from newly diagnosed patients in Cyprus (2007-2009) recovers multiple clades including unique recombinant strains and lack of transmitted drug resistance

Kousiappa, Ioanna; Achilleos, Charis; Hezka, Johana; Lazarou, Yiota; Othonos, Katerina M.; Demetriades, Ioannis; Kostrikis, Leontios G. (2011)

HIV-1 evolution generates substantial genetic diversity among isolates, the majority of which are represented in areas where multiple strains cocirculate. A heterogeneous genetic HIV-1 pool has been found in Cyprus, directing ...

Article

Mutation analysis of coding sequences for type I procollagen in individuals with low bone density

Spotila, L. D.; Colige, A.; Sereda, L.; Constantinou-Deltas, Constantinos D.; Whyte, M. P.; Riggs, L. B.; Shaker, J. L.; Spector, T. D.; Hume, E.; Olsen, N.; Attie, M.; Tenenhouse, A.; Shane, E.; Briney, W.; Prockop, D. J. (1994)

Mutations in one of the two genes encoding type I procollagen (COL1A1 and COL1A2) are frequently the cause of osteogenesis imperfecta (OI), a disorder characterized by brittle bones. Here we tested whether patients with ...

Article

Parental origin effects in human trisomy for chromosome 14q: Implications for genomic imprinting

Georgiades, Pantelis; Chierakul, C.; Ferguson-Smith, A. C. (1998)

Parental origin specific congenital anomalies have been noted in patients with uniparental disomy of the long arm of human chromosome 14 (UPD14). This suggests the presence of imprinted genes, consistent with observations ...

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 ...

Article

Somatic cell mosaicism: Another source of phenotypic heterogeneity in nuclear families with osteogenesis imperfecta

Constantinou-Deltas, Constantinos D.; Ladda, R. L.; Prockop, D. J. (1993)

Mutations in the genes coding for the proα1 and proα2 chains of type I procollagen have been found in many patients with osteogenesis imperfecta (OI), a heritable disorder of connective tissue. The severity of the disease ...

Article

X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure

Pierides, Alkis M.; Voskarides, Konstantinos; Kkolou, Maria; Hadjigavriel, Michalis; Constantinou-Deltas, Constantinos D. (2013)

Alport syndrome (ATS) results from X-linked, COL4A5 mutations (85%) or from autosomal recessive homozygous or compound heterozygous COL4A3/A4 mutations (15%), associated with alternate thinning and thickening as well as ...