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Page 1
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.
Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacká A, Piherová L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ Sr. Kidd KO, et al. Among authors: izzi c. BMC Nephrol. 2024 Dec 18;25(1):449. doi: 10.1186/s12882-024-03896-1. BMC Nephrol. 2024. PMID: 39696072 Free PMC article.
Genome-wide studies define new genetic mechanisms of IgA vasculitis.
Liu L, Zhu L, Monteiro-Martins S, Griffin A, Vlahos LJ, Fujita M, Berrouet C, Zanoni F, Marasa M, Zhang JY, Zhou XJ, Caliskan Y, Akchurin O, Al-Akash S, Jankauskiene A, Bodria M, Chishti A, Esposito C, Esposito V, Claes D, Tesar V, Davis TK, Samsonov D, Kaminska D, Hryszko T, Zaza G, Flynn JT, Iorember F, Lugani F, Rizk D, Julian BA, Hidalgo G, Kallash M, Biancone L, Amoroso A, Bono L, Mani LY, Vogt B, Lin F, Sreedharan R, Weng P, Ranch D, Xiao N, Quiroga A, Matar RB, Rheault MN, Wenderfer S, Selewski D, Lundberg S, Silva C, Mason S, Mahan JD, Vasylyeva TL, Mucha K, Foroncewicz B, Pączek L, Florczak M, Olszewska M, Gradzińska A, Szczepańska M, Machura E, Badeński A, Krakowczyk H, Sikora P, Kwella N, Miklaszewska M, Drożdż D, Zaniew M, Pawlaczyk K, SiniewiczLuzeńczyk K, Bomback AS, Appel GB, Izzi C, Scolari F, Materna-Kiryluk A, Mizerska-Wasiak M, Berthelot L, Pillebout E, Monteiro RC, Novak J, Green TJ, Smoyer WE, Hastings MC, Wyatt RJ, Nelson R, Martin J, González-Gay MA, De Jager PL, Köttgen A, Califano A, Gharavi AG, Zhang H, Kiryluk K. Liu L, et al. Among authors: izzi c. medRxiv [Preprint]. 2024 Oct 11:2024.10.10.24315041. doi: 10.1101/2024.10.10.24315041. medRxiv. 2024. PMID: 39417133 Free PMC article. Preprint.
Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study.
Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacká A, Piherová L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ. Kidd KO, et al. Among authors: izzi c. medRxiv [Preprint]. 2024 Jul 4:2024.07.03.24309887. doi: 10.1101/2024.07.03.24309887. medRxiv. 2024. PMID: 39006416 Free PMC article. Preprint.
Clinical Significance of the Cystic Phenotype in Alport Syndrome.
Zeni L, Mescia F, Toso D, Dordoni C, Mazza C, Savoldi G, Econimo L, Cortinovis R, Fisogni S, Alberici F, Scolari F, Izzi C. Zeni L, et al. Among authors: izzi c. Am J Kidney Dis. 2024 Sep;84(3):320-328.e1. doi: 10.1053/j.ajkd.2024.02.005. Epub 2024 Mar 19. Am J Kidney Dis. 2024. PMID: 38514012 Free article.
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Freud LR, Galloway S, Crowley TB, Moldenhauer J, Swillen A, Breckpot J, Borrell A, Vora NL, Cuneo B, Hoffman H, Gilbert L, Nowakowska B, Geremek M, Kutkowska-Kaźmierczak A, Vermeesch JR, Devriendt K, Busa T, Sigaudy S, Vigneswaran T, Simpson JM, Dungan J, Gotteiner N, Gloning KP, Digilio MC, Unolt M, Putotto C, Marino B, Repetto G, Fadic M, Garcia-Minaur S, Achón Buil A, Thomas MA, Fruitman D, Beecroft T, Hui PW, Oskarsdottir S, Bradshaw R, Criebaum A, Norton ME, Lee T, Geiger M, Dunnington L, Isaac J, Wilkins-Haug L, Hunter L, Izzi C, Toscano M, Ghi T, McGlynn J, Romana Grati F, Emanuel BS, Gaiser K, Gaynor JW, Goldmuntz E, McGinn DE, Schindewolf E, Tran O, Zackai EH, Yan Q, Bassett AS, Wapner R, McDonald-McGinn DM. Freud LR, et al. Among authors: izzi c. Am J Obstet Gynecol. 2024 Mar;230(3):368.e1-368.e12. doi: 10.1016/j.ajog.2023.09.005. Epub 2023 Sep 16. Am J Obstet Gynecol. 2024. PMID: 37717890
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.
Kiryluk K, Sanchez-Rodriguez E, Zhou XJ, Zanoni F, Liu L, Mladkova N, Khan A, Marasa M, Zhang JY, Balderes O, Sanna-Cherchi S, Bomback AS, Canetta PA, Appel GB, Radhakrishnan J, Trimarchi H, Sprangers B, Cattran DC, Reich H, Pei Y, Ravani P, Galesic K, Maixnerova D, Tesar V, Stengel B, Metzger M, Canaud G, Maillard N, Berthoux F, Berthelot L, Pillebout E, Monteiro R, Nelson R, Wyatt RJ, Smoyer W, Mahan J, Samhar AA, Hidalgo G, Quiroga A, Weng P, Sreedharan R, Selewski D, Davis K, Kallash M, Vasylyeva TL, Rheault M, Chishti A, Ranch D, Wenderfer SE, Samsonov D, Claes DJ, Akchurin O, Goumenos D, Stangou M, Nagy J, Kovacs T, Fiaccadori E, Amoroso A, Barlassina C, Cusi D, Del Vecchio L, Battaglia GG, Bodria M, Boer E, Bono L, Boscutti G, Caridi G, Lugani F, Ghiggeri G, Coppo R, Peruzzi L, Esposito V, Esposito C, Feriozzi S, Polci R, Frasca G, Galliani M, Garozzo M, Mitrotti A, Gesualdo L, Granata S, Zaza G, Londrino F, Magistroni R, Pisani I, Magnano A, Marcantoni C, Messa P, Mignani R, Pani A, Ponticelli C, Roccatello D, Salvadori M, Salvi E, Santoro D, Gembillo G, Savoldi S, Spotti D, Zamboli P, Izzi C, Alberici F, Delbarba E, Florczak M, Krata N, Mucha K, Pączek L, Niemczyk … See abstract for full author list ➔ Kiryluk K, et al. Among authors: izzi c. Nat Genet. 2023 Jul;55(7):1091-1105. doi: 10.1038/s41588-023-01422-x. Epub 2023 Jun 19. Nat Genet. 2023. PMID: 37337107
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Lecca M, Bedeschi MF, Izzi C, Dordoni C, Rinaldi B, Peluso F, Caraffi SG, Prefumo F, Signorelli M, Zanzucchi M, Bione S, Ghigna C, Sassi S, Novelli A, Valente EM, Superti-Furga A, Garavelli L, Errichiello E. Lecca M, et al. Among authors: izzi c. Clin Genet. 2023 Aug;104(2):230-237. doi: 10.1111/cge.14336. Epub 2023 Apr 10. Clin Genet. 2023. PMID: 37038048
81 results