Rights | Preview | Issue Date | Title | Author(s) | Type |
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; Vilches, S.; Diaz Jauregui, T.; López-Trascasa, Margarita; Sánchez-Corral, Pilar CSIC ORCID; Arjona, Emilia CSIC ORCID ; Rodríguez de Córdoba, Santiago | comunicación de congreso |
openAccess |  | Apr-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-Aug-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; González-Rubio, Carolina; Gallardo, M. Esther CSIC ORCID; Vera, Mariá; López-Trascasa, Margarita; Rodríguez de Córdoba, Santiago ; Sánchez-Corral, Pilar CSIC ORCID | artículo |
openAccess | | Oct-2018 | Common and rare genetic variants of complement components in human disease | Goicoechea de Jorge, Elena CSIC ORCID; López-Lera, Alberto; Bayarri-Olmos, Rafael; Yébenes, Hugo; López-Trascasa, Margarita; Rodríguez de Córdoba, Santiago | artículo |
openAccess |  | 21-Jun-2021 | Complement factor D (adipsin) levels are elevated in acquired partial lipodystrophy (Barraquer-Simons syndrome) | Corvillo, Fernando; González-Sánchez, Laura CSIC ORCID; López-Lera, Alberto; Arjona, Emilia CSIC ORCID ; Ceccarini, Giovanni; Santini, Ferruccio; Araújo-Vilar, David; Brown, Rebecca J.; Villarroya, Joan; Villarroya, Francesc; Rodríguez de Córdoba, Santiago ; Caballero, Teresa; Nozal, Pilar; López-Trascasa, Margarita | artículo |
openAccess |  | Jan-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 |  | 2-Jan-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; Carreras, Luis; Aller Arranz, Elena; Abarrategui-Garrido, Cynthia; López-Trascasa, Margarita; Sánchez-Corral, Pilar CSIC ORCID; Morgan, B. Paul; Rodríguez de Córdoba, Santiago | artículo |
openAccess |  | 13-Sep-2010 | Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation | Martínez-Barricarte, Rubén CSIC; Heurich, Meike; Valdés-Cañedo, Francisco; Vázquez-Martul, Eduardo; Torreira, Eva CSIC; Montes, Tamara CSIC; Tortajada, Agustín CSIC ORCID; Pinto, Sheila CSIC; López-Trascasa, Margarita; Morgan, B. Paul; Llorca, Óscar CSIC ORCID; Harris, Claire L.; 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; 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; Goicoechea de Jorge, Elena CSIC ORCID; Buil, Alfonso; Carreras, Luis; López-Trascasa, Margarita; Sánchez-Corral, Pilar CSIC ORCID; Rodríguez de Córdoba, Santiago | artículo |
closedAccess |  | 1-Nov-2012 | Sensitive and specific assays for C3 nephritic factors permit dissection of mechanisms underlying complement dysregulation | Paixao-Cavalcante, Danielle; López-Trascasa, Margarita; Skattum, Lillemor; Giclas, Patricia C.; Goodship, Timothy H.J.; Rodríguez de Córdoba, Santiago ; Truedsson, Lennart; Morgan, B. Paul; Harris, Claire L. | artículo |
openAccess |  | Apr-2016 | Serum properdin consumption as a biomarker of C5 convertase dysregulation in C3 glomerulopathy | Corvillo, Fernando; María Bravo García-Morato; Nozal, Pilar; Garrido, Sofía; Tortajada, Agustín CSIC ORCID; Rodríguez de Córdoba, Santiago ; López-Trascasa, Margarita | 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; Huarte, Olatz; Simckes, Ari M.; Goicoechea de Jorge, Elena CSIC ORCID; López-Trascasa, Margarita; Rodríguez de Córdoba, Santiago | 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 |
openAccess |  | 5-May-2016 | Testing the activity of complement convertases in serum/plasma for diagnosis of C4NeF-mediated C3 glomerulonephritis | Blom, Anna M.; Corvillo, Fernando; Magda, Michal; Stasiłojć, Grzegorz; Nozal, Pilar; Pérez-Valdivia, Miguel Ángel; Cabello-Chaves, Virginia; Rodríguez de Córdoba, Santiago ; López-Trascasa, Margarita; Okrój, Marcin | artículo |
closedAccess |  | 2004 | The human complement factor H: Functional roles, genetic variations and disease associations | Rodríguez de Córdoba, Santiago ; Esparza-Gordillo, Jorge; Goicoechea de Jorge, Elena CSIC ORCID; López-Trascasa, Margarita; Sánchez-Corral, Pilar CSIC ORCID | artículo |