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von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.
Remuzzi G, Galbusera M, Noris M, Canciani MT, Daina E, Bresin E, Contaretti S, Caprioli J, Gamba S, Ruggenenti P, Perico N, Mannucci PM; Italian Registry of Recurrent and Familial HUS/TTP. Thrombotic thrombocytopenic purpura/hemolytic uremic syndrome. Remuzzi G, et al. Among authors: gamba s. Blood. 2002 Aug 1;100(3):778-85. doi: 10.1182/blood-2001-12-0166. Blood. 2002. PMID: 12130486 Free article.
Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.
Caprioli J, Castelletti F, Bucchioni S, Bettinaglio P, Bresin E, Pianetti G, Gamba S, Brioschi S, Daina E, Remuzzi G, Noris M; International Registry of Recurrent and Familial HUS/TTP. Caprioli J, et al. Among authors: gamba s. Hum Mol Genet. 2003 Dec 15;12(24):3385-95. doi: 10.1093/hmg/ddg363. Epub 2003 Oct 28. Hum Mol Genet. 2003. PMID: 14583443
Familial haemolytic uraemic syndrome and an MCP mutation.
Noris M, Brioschi S, Caprioli J, Todeschini M, Bresin E, Porrati F, Gamba S, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP. Noris M, et al. Among authors: gamba s. Lancet. 2003 Nov 8;362(9395):1542-7. doi: 10.1016/S0140-6736(03)14742-3. Lancet. 2003. PMID: 14615110
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.
Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, Mele C, Bresin E, Cassis L, Gamba S, Porrati F, Bucchioni S, Monteferrante G, Fang CJ, Liszewski MK, Kavanagh D, Atkinson JP, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP. Caprioli J, et al. Among authors: gamba s. Blood. 2006 Aug 15;108(4):1267-79. doi: 10.1182/blood-2005-10-007252. Epub 2006 Apr 18. Blood. 2006. PMID: 16621965 Free PMC article. Clinical Trial.
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.
Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G. Noris M, et al. Among authors: gamba s. Clin J Am Soc Nephrol. 2010 Oct;5(10):1844-59. doi: 10.2215/CJN.02210310. Epub 2010 Jul 1. Clin J Am Soc Nephrol. 2010. PMID: 20595690 Free PMC article.
Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome.
Iatropoulos P, Noris M, Mele C, Piras R, Valoti E, Bresin E, Curreri M, Mondo E, Zito A, Gamba S, Bettoni S, Murer L, Fremeaux-Bacchi V, Vivarelli M, Emma F, Daina E, Remuzzi G. Iatropoulos P, et al. Among authors: gamba s. Mol Immunol. 2016 Mar;71:131-142. doi: 10.1016/j.molimm.2016.01.010. Epub 2016 Feb 16. Mol Immunol. 2016. PMID: 26895476
Cluster Analysis Identifies Distinct Pathogenetic Patterns in C3 Glomerulopathies/Immune Complex-Mediated Membranoproliferative GN.
Iatropoulos P, Daina E, Curreri M, Piras R, Valoti E, Mele C, Bresin E, Gamba S, Alberti M, Breno M, Perna A, Bettoni S, Sabadini E, Murer L, Vivarelli M, Noris M, Remuzzi G; Registry of Membranoproliferative Glomerulonephritis/C3 Glomerulopathy; Nastasi. Iatropoulos P, et al. Among authors: gamba s. J Am Soc Nephrol. 2018 Jan;29(1):283-294. doi: 10.1681/ASN.2017030258. Epub 2017 Oct 13. J Am Soc Nephrol. 2018. PMID: 29030465 Free PMC article.
103 results