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Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome.
Bernabéu-Herrero ME, Jiménez-Alcázar M, Anter J, Pinto S, Sánchez Chinchilla D, Garrido S, López-Trascasa M, Rodríguez de Córdoba S, Sánchez-Corral P. Bernabéu-Herrero ME, et al. Among authors: pinto s. Mol Immunol. 2015 Oct;67(2 Pt B):276-86. doi: 10.1016/j.molimm.2015.06.021. Epub 2015 Jul 7. Mol Immunol. 2015. PMID: 26163426
Genetics of atypical hemolytic uremic syndrome (aHUS).
Rodríguez de Córdoba S, Hidalgo MS, Pinto S, Tortajada A. Rodríguez de Córdoba S, et al. Among authors: pinto s. Semin Thromb Hemost. 2014 Jun;40(4):422-30. doi: 10.1055/s-0034-1375296. Epub 2014 May 5. Semin Thromb Hemost. 2014. PMID: 24799305 Review.
Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.
Sánchez Chinchilla D, Pinto S, Hoppe B, Adragna M, Lopez L, Justa Roldan ML, Peña A, Lopez Trascasa M, Sánchez-Corral P, Rodríguez de Córdoba S. Sánchez Chinchilla D, et al. Among authors: pinto s. Clin J Am Soc Nephrol. 2014 Sep 5;9(9):1611-9. doi: 10.2215/CJN.01640214. Epub 2014 Aug 18. Clin J Am Soc Nephrol. 2014. PMID: 25135762 Free PMC article.
The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome.
Martínez-Barricarte R, Heurich M, López-Perrote A, Tortajada A, Pinto S, López-Trascasa M, Sánchez-Corral P, Morgan BP, Llorca O, Harris CL, Rodríguez de Córdoba S. Martínez-Barricarte R, et al. Among authors: pinto s. Mol Immunol. 2015 Aug;66(2):263-73. doi: 10.1016/j.molimm.2015.03.248. Epub 2015 Apr 11. Mol Immunol. 2015. PMID: 25879158 Free PMC article.
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
Bresin E, Rurali E, Caprioli J, Sanchez-Corral P, Fremeaux-Bacchi V, Rodriguez de Cordoba S, Pinto S, Goodship TH, Alberti M, Ribes D, Valoti E, Remuzzi G, Noris M; European Working Party on Complement Genetics in Renal Diseases. Bresin E, et al. Among authors: pinto s. J Am Soc Nephrol. 2013 Feb;24(3):475-86. doi: 10.1681/ASN.2012090884. Epub 2013 Feb 21. J Am Soc Nephrol. 2013. PMID: 23431077 Free PMC article.
Elevated factor H-related protein 1 and factor H pathogenic variants decrease complement regulation in IgA nephropathy.
Tortajada A, Gutiérrez E, Goicoechea de Jorge E, Anter J, Segarra A, Espinosa M, Blasco M, Roman E, Marco H, Quintana LF, Gutiérrez J, Pinto S, Lopez-Trascasa M, Praga M, Rodriguez de Córdoba S. Tortajada A, et al. Among authors: pinto s. Kidney Int. 2017 Oct;92(4):953-963. doi: 10.1016/j.kint.2017.03.041. Epub 2017 Jun 19. Kidney Int. 2017. PMID: 28637589 Free article.
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Osborne AJ, Breno M, Borsa NG, Bu F, Frémeaux-Bacchi V, Gale DP, van den Heuvel LP, Kavanagh D, Noris M, Pinto S, Rallapalli PM, Remuzzi G, Rodríguez de Cordoba S, Ruiz A, Smith RJH, Vieira-Martins P, Volokhina E, Wilson V, Goodship THJ, Perkins SJ. Osborne AJ, et al. Among authors: pinto s. J Immunol. 2018 Apr 1;200(7):2464-2478. doi: 10.4049/jimmunol.1701695. Epub 2018 Mar 2. J Immunol. 2018. PMID: 29500241 Free PMC article.
Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation.
Martínez-Barricarte R, Heurich M, Valdes-Cañedo F, Vazquez-Martul E, Torreira E, Montes T, Tortajada A, Pinto S, Lopez-Trascasa M, Morgan BP, Llorca O, Harris CL, Rodríguez de Córdoba S. Martínez-Barricarte R, et al. Among authors: pinto s. J Clin Invest. 2010 Oct;120(10):3702-12. doi: 10.1172/JCI43343. Epub 2010 Sep 13. J Clin Invest. 2010. PMID: 20852386 Free PMC article.
1,277 results