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Page 1
Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F. Savige J, et al. Among authors: deltas c. Clin J Am Soc Nephrol. 2022 Jan;17(1):143-154. doi: 10.2215/CJN.04230321. Epub 2021 Dec 20. Clin J Am Soc Nephrol. 2022. PMID: 34930753 Free PMC article.
COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.
Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C. Voskarides K, et al. Among authors: deltas c. J Am Soc Nephrol. 2007 Nov;18(11):3004-16. doi: 10.1681/ASN.2007040444. Epub 2007 Oct 17. J Am Soc Nephrol. 2007. PMID: 17942953
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: deltas c. 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: deltas c. 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: deltas c. 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.
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.
International Alport Mutation Consortium; Savige J, Ars E, Cotton RG, Crockett D, Dagher H, Deltas C, Ding J, Flinter F, Pont-Kingdon G, Smaoui N, Torra R, Storey H. International Alport Mutation Consortium, et al. Among authors: deltas c. Pediatr Nephrol. 2014 Jun;29(6):971-7. doi: 10.1007/s00467-013-2486-8. Epub 2013 May 30. Pediatr Nephrol. 2014. PMID: 23720012 Review.
Evidence for activation of the unfolded protein response in collagen IV nephropathies.
Pieri M, Stefanou C, Zaravinos A, Erguler K, Stylianou K, Lapathitis G, Karaiskos C, Savva I, Paraskeva R, Dweep H, Sticht C, Anastasiadou N, Zouvani I, Goumenos D, Felekkis K, Saleem M, Voskarides K, Gretz N, Deltas C. Pieri M, et al. Among authors: deltas c. J Am Soc Nephrol. 2014 Feb;25(2):260-75. doi: 10.1681/ASN.2012121217. Epub 2013 Nov 21. J Am Soc Nephrol. 2014. PMID: 24262798 Free PMC article.
133 results