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Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.
Pierides A, Voskarides K, Athanasiou Y, Ioannou K, Damianou L, Arsali M, Zavros M, Pierides M, Vargemezis V, Patsias C, Zouvani I, Elia A, Kyriacou K, Deltas C. Pierides A, et al. Among authors: voskarides k. Nephrol Dial Transplant. 2009 Sep;24(9):2721-9. doi: 10.1093/ndt/gfp158. Epub 2009 Apr 8. Nephrol Dial Transplant. 2009. PMID: 19357112
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. Among authors: voskarides k. 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: voskarides k. 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.
The role of molecular genetics in diagnosing familial hematuria(s).
Deltas C, Pierides A, Voskarides K. Deltas C, et al. Among authors: voskarides k. Pediatr Nephrol. 2012 Aug;27(8):1221-31. doi: 10.1007/s00467-011-1935-5. Epub 2011 Jun 19. Pediatr Nephrol. 2012. PMID: 21688191 Free PMC article. Review.
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