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The following term was not found in PubMed: Biol.Sci.D
Page 1
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: bucchioni 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.
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: bucchioni 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
In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura.
Donadelli R, Banterla F, Galbusera M, Capoferri C, Bucchioni S, Gastoldi S, Nosari S, Monteferrante G, Ruggeri ZM, Bresin E, Scheiflinger F, Rossi E, Martinez C, Coppo R, Remuzzi G, Noris M; International Registry of Recurrent and Familial HUS/TTP. Donadelli R, et al. Among authors: bucchioni s. Thromb Haemost. 2006 Oct;96(4):454-64. Thromb Haemost. 2006. PMID: 17003922
Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement.
Noris M, Bucchioni S, Galbusera M, Donadelli R, Bresin E, Castelletti F, Caprioli J, Brioschi S, Scheiflinger F, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP. Noris M, et al. Among authors: bucchioni s. J Am Soc Nephrol. 2005 May;16(5):1177-83. doi: 10.1681/ASN.2005010086. Epub 2005 Mar 30. J Am Soc Nephrol. 2005. PMID: 15800115