Publicaciones en las que colabora con Margarita López Trascasa (10)

2018

  1. Common and rare genetic variants of complement components in human disease

    Molecular Immunology, Vol. 102, pp. 42-57

2017

  1. Elevated factor H–related protein 1 and factor H pathogenic variants decrease complement regulation in IgA nephropathy

    Kidney International, Vol. 92, Núm. 4, pp. 953-963

2008

  1. Mutations in Proteins of the Alternative Pathway of Complement and the Pathogenesis of Atypical Hemolytic Uremic Syndrome

    American Journal of Kidney Diseases, Vol. 52, Núm. 1, pp. 171-180

2007

  1. Erratum: Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome (Proceeding of the National Academy of Science of the United States of America (January 2007) 104, (240-245))

    Proceedings of the National Academy of Sciences of the United States of America

  2. Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 104, Núm. 1, pp. 240-245

  3. The interactive factor H-atypical hemolytic uremic syndrome mutation database and website: Update and integration of membrane cofactor protein and factor I mutations with structural models

    Human Mutation, Vol. 28, Núm. 3, pp. 222-234

2006

  1. Insights into hemolytic uremic syndrome: Segregation of three independent predisposition factors in a large, multiple affected pedigree

    Molecular Immunology, Vol. 43, Núm. 11, pp. 1769-1775

2005

  1. Erratum: Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation of gene cluster in 1q32 (Human Molecular Genetics (2005) vol. 14 (703-712))

    Human Molecular Genetics

  2. Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32

    Human Molecular Genetics, Vol. 14, Núm. 5, pp. 703-712

2004

  1. The human complement factor H: Functional roles, genetic variations and disease associations

    Molecular Immunology, Vol. 41, Núm. 4, pp. 355-367