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Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.
Papazachariou L, Papagregoriou G, Hadjipanagi D, Demosthenous P, Voskarides K, Koutsofti C, Stylianou K, Ioannou P, Xydakis D, Tzanakis I, Papadaki A, Kallivretakis N, Nikolakakis N, Perysinaki G, Gale DP, Diamantopoulos A, Goudas P, Goumenos D, Soloukides A, Boletis I, Melexopoulou C, Georgaki E, Frysira E, Komianou F, Grekas D, Paliouras C, Alivanis P, Vergoulas G, Pierides A, Daphnis E, Deltas C. Papazachariou L, et al. Among authors: demosthenous p. Clin Genet. 2017 Nov;92(5):517-527. doi: 10.1111/cge.13077. Epub 2017 Sep 25. Clin Genet. 2017. PMID: 28632965
X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
Demosthenous P, Voskarides K, Stylianou K, Hadjigavriel M, Arsali M, Patsias C, Georgaki E, Zirogiannis P, Stavrou C, Daphnis E, Pierides A, Deltas C; Hellenic Nephrogenetics Research Consortium. Demosthenous P, et al. Clin Genet. 2012 Mar;81(3):240-8. doi: 10.1111/j.1399-0004.2011.01647.x. Epub 2011 Mar 13. Clin Genet. 2012. PMID: 21332469
Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees.
Athanasiou Y, Voskarides K, Gale DP, Damianou L, Patsias C, Zavros M, Maxwell PH, Cook HT, Demosthenous P, Hadjisavvas A, Kyriacou K, Zouvani I, Pierides A, Deltas C. Athanasiou Y, et al. Among authors: demosthenous p. Clin J Am Soc Nephrol. 2011 Jun;6(6):1436-46. doi: 10.2215/CJN.09541010. Epub 2011 May 12. Clin J Am Soc Nephrol. 2011. PMID: 21566112 Free PMC article.
Epistatic role of the MYH9/APOL1 region on familial hematuria genes.
Voskarides K, Demosthenous P, Papazachariou L, Arsali M, Athanasiou Y, Zavros M, Stylianou K, Xydakis D, Daphnis E, Gale DP, Maxwell PH, Elia A, Pattaro C, Pierides A, Deltas C. Voskarides K, et al. Among authors: demosthenous p. PLoS One. 2013;8(3):e57925. doi: 10.1371/journal.pone.0057925. Epub 2013 Mar 14. PLoS One. 2013. PMID: 23516419 Free PMC article.
Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.
Papazachariou L, Demosthenous P, Pieri M, Papagregoriou G, Savva I, Stavrou C, Zavros M, Athanasiou Y, Ioannou K, Patsias C, Panagides A, Potamitis C, Demetriou K, Prikis M, Hadjigavriel M, Kkolou M, Loukaidou P, Pastelli A, Michael A, Lazarou A, Arsali M, Damianou L, Goutziamani I, Soloukides A, Yioukas L, Elia A, Zouvani I, Polycarpou P, Pierides A, Voskarides K, Deltas C. Papazachariou L, et al. Among authors: demosthenous p. PLoS One. 2014 Dec 16;9(12):e115015. doi: 10.1371/journal.pone.0115015. eCollection 2014. PLoS One. 2014. PMID: 25514610 Free PMC article.
A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.
Voskarides K, Stefanou C, Pieri M, Demosthenous P, Felekkis K, Arsali M, Athanasiou Y, Xydakis D, Stylianou K, Daphnis E, Goulielmos G, Loizou P, Savige J, Höhne M, Völker LA, Benzing T, Maxwell PH, Gale DP, Gorski M, Böger C, Kollerits B, Kronenberg F, Paulweber B, Zavros M, Pierides A, Deltas C. Voskarides K, et al. Among authors: demosthenous p. PLoS One. 2017 Mar 23;12(3):e0174274. doi: 10.1371/journal.pone.0174274. eCollection 2017. PLoS One. 2017. PMID: 28334007 Free PMC article.
Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.
Athanasiou Y, Voskarides K, Chatzikyriakidou A, Ignatiou A, Demosthenous P, Elia A, Zavros M, Georgiou I, Pierides A, Deltas C. Athanasiou Y, et al. Among authors: demosthenous p. Genet Test Mol Biomarkers. 2015 Nov;19(11):641-5. doi: 10.1089/gtmb.2015.0144. Epub 2015 Nov 5. Genet Test Mol Biomarkers. 2015. PMID: 26540609
15 results