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Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | oct-2016 | An retrospective analysis of genetic diagnosis in Atypical Hemolytic Uremic Syndrome (aHUS) and C3 glomerulopathy (C3G). Where we are now and where we are moving to. | Pérez Pérez, J.; Olavarrieta, Leticia CSIC; Vilches, Susana; Diaz Jauregui, T.; López-Trascasa, Margarita; Sánchez-Corral, Pilar CSIC ORCID; Arjona, Emilia CSIC ORCID ; Rodríguez de Córdoba, Santiago | comunicación de congreso |
openAccess | | abr-2012 | Anti-factor H antibody affecting factor H cofactor activity in a patient with dense deposit disease | Nozal, Pilar; Strobel, Stefanie; Ibernon, Meritxell; López, Dolores; Sánchez-Corral, Pilar CSIC ORCID; Rodríguez de Córdoba, Santiago ; Józsi, Mihály; López-Trascasa, Margarita | artículo |
openAccess | | 15-ago-2012 | Atypical Hemolytic Uremic Syndrome-Associated variants and autoantibodies impair binding of factor H and factor H-Related protein 1 to Pentraxin 3 | Kopp, Anne; Strobel, Stefanie; Tortajada, Agustín CSIC ORCID; Rodríguez de Córdoba, Santiago ; Sánchez-Corral, Pilar CSIC ORCID; Prohászka, Zoltán; López-Trascasa, Margarita; Józsi, Mihály | artículo |
openAccess | | 14-oct-2021 | Case report: combined liver-kidney transplantation to correct a mutation in complement factor B in an atypical Hemolytic Uremic Syndrome patient | López-Trascasa, Margarita; Alonso-Melgar, Ángel; Melgosa, Marta; Espinosa-Román, Laura; Lledín-Barbancho, María Dolores; García-Fernández, Eugenia; Rodríguez de Córdoba, Santiago ; Sánchez-Corral, Pilar CSIC ORCID | artículo |
closedAccess | | 5-nov-2009 | Characterization of complement factor H–related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome | Abarrategui-Garrido, Cynthia; Martínez-Barricarte, Rubén CSIC; López-Trascasa, Margarita; Rodríguez de Córdoba, Santiago ; Sánchez-Corral, Pilar CSIC ORCID | artículo |
closedAccess | | 2001 | Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome | Pérez-Caballero, David CSIC; González-Rubio, Carolina; Gallardo, M. Esther CSIC ORCID; Vera, Mariá CSIC; López-Trascasa, Margarita; Rodríguez de Córdoba, Santiago ; Sánchez-Corral, Pilar CSIC ORCID | artículo |
openAccess | | ene-2012 | Complement factor H variants I890 and L1007 while commonly associated with atypical haemolytic uremic syndrome are polymorphisms with no functional significance | Tortajada, Agustín CSIC ORCID; Pinto, Sheila CSIC; Martínez-Ara, Jorge; López-Trascasa, Margarita; Sánchez-Corral, Pilar CSIC ORCID; Rodríguez de Córdoba, Santiago | artículo |
openAccess | | 11-mar-2021 | Complement genetic variants and FH desialylation in S. pneumoniae-Haemolytic Uraemic Syndrome | Gómez Delgado, Irene; Corvillo, Fernando; Nozal, Pilar; Arjona, Emilia CSIC ORCID ; Madrid, Álvaro; Melgosa, Marta; Bravo, Juan; Szilágyi, Ágnes; Csuka, Dorottya; Veszeli, Nóra; Prohászka, Zoltán; Sánchez-Corral, Pilar CSIC ORCID | artículo |
openAccess | | 18-sep-2014 | Complement mutations in Diacylglycerol Kinase-E-associated atypical hemolytic uremic syndrome. | Sánchez Chinchilla, Daniel; Pinto, Sheila CSIC; Hoppe, Bernd; Adragna, Marta; López, Laura; Roldán, María Luisa Justa; Peña, Antonia; López Trascasa, Margarita; Sánchez-Corral, Pilar CSIC ORCID; Rodríguez de Córdoba, Santiago | artículo |
closedAccess | | mar-2006 | De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome | Heinen, Stephan; Sánchez-Corral, Pilar CSIC ORCID; Jackson, Michael; Strain, Lisa; Goodship, Judith A.; Kemp, Elizabeth J.; Skerka, Christine; Jokiranta, T. Sakari; Meyers, Kevin; Wagner, Eric; Robitaille, Pierre; Esparza-Gordillo, Jorge CSIC; Rodríguez de Córdoba, Santiago ; Zipfel, Peter F.; Goodship, Timothy H.J. | artículo |
openAccess | | ene-2014 | Eculizumab long-term therapy for pediatric renal transplant in aHUS with CFH/CFHR1 hybrid gene | Román-Ortiz, E.; Mendizabal Oteiza, S.; Pinto, Sheila CSIC; López Trascasa, Margarita; Sánchez-Corral, Pilar CSIC ORCID; Rodríguez de Córdoba, Santiago | artículo |
closedAccess | | jun-2022 | Factor H-related protein 1 drives disease susceptibility and prognosis in C3 glomerulopathy | Márquez-Tirado, Bárbara; Gutiérrez-Tenorio, Josué; Tortajada, Agustín CSIC ORCID; Lucientes, Laura; Caravaca-Fontán, Fernando; Malik, T. H.; Roldán Montero, Raquel; Elías, Sandra; Saiz Gonzalez, Ana; Fernández-Juárez, Gema; Sánchez-Corral, Pilar CSIC ORCID; Pickering, Matthew C.; Praga, Manuel; Rodríguez de Córdoba, Santiago ; Goicoechea de Jorge, Elena CSIC ORCID | artículo |
openAccess | | 2-ene-2007 | Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome | Goicoechea de Jorge, Elena CSIC ORCID; Harris, Claire L.; Esparza-Gordillo, Jorge CSIC; Carreras, Luis; Aller Arranz, Elena CSIC; Abarrategui-Garrido, Cynthia; López-Trascasa, Margarita; Sánchez-Corral, Pilar CSIC ORCID; Morgan, B. Paul; Rodríguez de Córdoba, Santiago | artículo |
closedAccess | | may-2008 | Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritis | Montes, Tamara CSIC; Goicoechea de Jorge, Elena CSIC ORCID; Ramos, Rosa; Gomá, Montserrat; Pujol, Octavi; Sánchez-Corral, Pilar CSIC ORCID; Rodríguez de Córdoba, Santiago | artículo |
openAccess | | 2006 | Insights into hemolytic uremic syndrome: Segregation of three independent predisposition factors in a large, multiple affected pedigree | Esparza-Gordillo, Jorge CSIC; Goicoechea de Jorge, Elena CSIC ORCID; Abarrategui-Garrido, Cynthia; Carreras, Luis; López-Trascasa, Margarita; Sánchez-Corral, Pilar CSIC ORCID; Rodríguez de Córdoba, Santiago | artículo |
closedAccess | | jul-2008 | Mutations in proteins of the Alternative Pathway of Complement and the Pathogenesis of Atypical Hemolytic Uremic Syndrome | Abarrategui-Garrido, Cynthia; Melgosa, Marta; Peña-Carrión, Antonia; Goicoechea de Jorge, Elena CSIC ORCID; Rodríguez de Córdoba, Santiago ; López-Trascasa, Margarita; Sánchez-Corral, Pilar CSIC ORCID | artículo |
closedAccess | | 2005 | Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32 | Esparza-Gordillo, Jorge CSIC; Goicoechea de Jorge, Elena CSIC ORCID; Buil, Alfonso; Carreras, Luis; López-Trascasa, Margarita; Sánchez-Corral, Pilar CSIC ORCID; Rodríguez de Córdoba, Santiago | artículo |
closedAccess | | 2002 | Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome | Sánchez-Corral, Pilar CSIC ORCID; Pérez-Caballero, David CSIC; Huarte, Olatz CSIC; Simckes, Ari M.; Goicoechea de Jorge, Elena CSIC ORCID; López-Trascasa, Margarita; Rodríguez de Córdoba, Santiago | artículo |
openAccess | | may-1991 | Structure of the gene coding for the α polypeptide chain of the human complement component C4b-binding protein | Rodríguez de Córdoba, Santiago ; Sánchez-Corral, Pilar CSIC ORCID; Rey-Campos, J. CSIC | artículo |
closedAccess | | jun-2009 | Successful renal transplantation in a patient with atypical hemolytic uremic syndrome carrying mutations in both Factor I and MCP (CD46) | Cruzado, Josep María; Rodríguez de Córdoba, Santiago ; Melilli, Edoardo; Bestard, Oriol; Rama, Inés; Sánchez-Corral, Pilar CSIC ORCID; López-Trascasa, Margarita; Navarro, Isabel; Torras, Josep; Gomà, Marta; Grinyó, Josep María | artículo |