Browsing by Subject "haplotype"

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

COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century

Voskarides, Konstantinos; Patsias, Charalambos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2008)

Mutations in the COL4A3/COL4A4 genes of type IV collagen account for about 40% of cases of thin basement membrane nephropathy, a condition that is estimated to affect 1% or more of the general population. We recently ...

Article

Contrasting frequencies of CCR5Δ32 and CCR2-64I alleles in the Tunisian population [1]

Barbouche, R. M.; Hong, L.; Dellagi, K.; Kostrikis, Leontios G. (2001)

Article

Cystic fibrosis patients from the black sea region: The 1677delTA mutation

Angelicheva, D.; Boteva, Kalina; Jordanova, A.; Savov, A.; Kufardjieva, A.; Tolun, A.; Telatar, M.; Akarsubaşi, A.; Köprübaşi, F.; Aydoǧdu, S.; Demirkol, M.; Kurdoǧlu, G.; Constantinou-Deltas, Constantinos D.; Georgiou, Christina; Dean, M.; Ivaschenko, T.; Baranov, V.; Kalaydjieva, L. (1994)

A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. ...

Article

Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes

Voskarides, Konstantinos; Demosthenous, Panayiota; Papazachariou, Louiza; Arsali, Maria; Athanasiou, Yiannis; Zavros, Michalis; Stylianou, Konstantinos G.; Xydakis, D.; Daphnis, Eugenios K.; Gale, D. P.; Maxwell, P. H.; Elia, Avraam; Pattaro, C.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2013)

Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes ...

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

Global distribution of the CCR2-641/CCR5-59653T HIV-1 disease-protective haplotype

Martinson, J. J.; Hong, L.; Karanicolas, R.; Moore, J. P.; Kostrikis, Leontios G. (2000)

Objectives: Several natural polymorphisms in the genes for the human CC-chemokine receptors CCR5 and CCR2 are associated with HIV-1 disease. The CCR2-641 genetic variant [a G to A substitution resulting in a valine (V) to ...

Article

Medullary cystic kidney disease type 1: Mutational analysis in 37 genes based on haplotype sharing

Wolf, M. T. F.; Mucha, B. E.; Hennies, H. C.; Attanasio, M.; Panther, F.; Zalewski, I.; Karle, S. M.; Otto, E. A.; Constantinou-Deltas, Constantinos D.; Fuchshuber, A.; Hildebrandt, F. (2006)

Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt wasting and end-stage renal failure in the fourth to seventh decade of life. MCKD1 was localized ...

Article

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

Feldman, M.; Prikis, Marios; Athanasiou, Yiannis; Elia, Avraam; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2006)

The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect islinked to the renal ...

Article

Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families

Constantinou-Deltas, Constantinos D.; Christodoulou, Kyproula; Tjakouri, C.; Pierides, Alkis M. (1996)

Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. ...

Article

Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region

Rüschendorf, F.; Fuchshuber, A.; Kroiss, S.; Karle, S.; Berthold, S.; Huck, K.; Burton, C.; Rahman, N.; Koptides, Michael; Constantinou-Deltas, Constantinos D.; Otto, E.; Feest, T.; Hildebrandt, F. (2001)

Autosomal dominant medullary cystic kidney disease (MCKD) is an adult onset tubulointerstitial nephropathy that leads to salt wasting and end-stage renal failure. A gene locus (MCKD1) has been mapped on chromosome 1q21. ...

Article

Y-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements

Voskarides, Konstantinos; Mazières, S.; Hadjipanagi, Despina; Di Cristofaro, J.; Ignatiou, Anastasia; Stefanou, Charalambos; King, R. J.; Underhill, P. A.; Chiaroni, J.; Constantinou-Deltas, Constantinos D. (2016)

Background: The archeological record indicates that the permanent settlement of Cyprus began with pioneering agriculturalists circa 11,000years before present, (ca. 11,000 y BP). Subsequent colonization events followed, ...