María E Bernabeu-Herrero

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

Claire L. Shovlin, Ilenia Simeoni, Kate Downes et al. · Blood · 2020 · 71 citations · Full text

Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome

María E Bernabeu-Herrero, Miguel Jiménez-Alcázar, Jaouad Anter et al. · Molecular Immunology · 2015 · 54 citations

Immunohematology, Extended Haplotype Conferring, Haplotype Determination +13

Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia

Ana Fontalba, Africa Fernández-L, Eva García‐Alegría et al. · BMC Medical Genetics · 2008 · 37 citations · Full text

Heterogeneity but individual constancy of epitopes, isotypes and avidity of factor H autoantibodies in atypical hemolytic uremic syndrome

Pilar Nozal, María E Bernabeu-Herrero, Barbara Uzonyi et al. · Molecular Immunology · 2015 · 28 citations · Full text

Immunohematology, Urology, Autoimmune Disease +14

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT

María E Bernabeu-Herrero, Dilipkumar Patel, Adrianna Bielowka et al. · Blood · 2024 · 16 citations · Full text

Genetics, Human Polymorphism, Genomic Mechanism +19