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Page 1
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. Lancet. 2003 Nov 8;362(9395):1542-7. doi: 10.1016/S0140-6736(03)14742-3. Lancet. 2003. PMID: 14615110
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: noris m. 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: noris m. 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
Hemolytic uremic syndrome.
Noris M, Remuzzi G. Noris M, et al. J Am Soc Nephrol. 2005 Apr;16(4):1035-50. doi: 10.1681/ASN.2004100861. Epub 2005 Feb 23. J Am Soc Nephrol. 2005. PMID: 15728781 Review. No abstract available.
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: noris m. 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.
255 results