Associated Papers
Differential Diagnosis of Thrombotic Microangiopathy: Overlapping Features of Thrombotic Thrombocytopenic Purpura and Complement-Mediated Thrombotic Microangiopathy in a Dengue-Infected Patient.
Sartori Pacini G et al.
Nephron, 2026
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
The Rationale of Complement Blockade of the MCPggaac Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review.
Turudic D et al.
International Journal of Molecular Sciences, 2023
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.
Acosta-Medina AA et al.
Blood Advances, 2023
An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.
Gastoldi S et al.
Frontiers in Immunology, 2023
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson PC et al.
Kidney360, 2020
Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant.
Piras R et al.
Frontiers in Medicine, 2020
Atypical hemolytic-uremic syndrome: recurrent phenotypic expression of a patient with MCP gene mutation combined with risk haplotypes.
Marini SC et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2019
Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.
Gaut JP et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Fidalgo T et al.
Research and Practice in Thrombosis and Haemostasis, 2017
Successful long-term outcome after renal transplantation in a patient with atypical haemolytic uremic syndrome with combined membrane cofactor protein CD46 and complement factor I mutations.
Pabst WL et al.
Pediatric Nephrology (berlin, Germany), 2013
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
Bresin E et al.
Journal of the American Society of Nephrology : Jasn, 2013
Triggering of atypical hemolytic uremic syndrome by influenza A (H1N1).
Bento D et al.
Renal Failure, 2010
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Maga TK et al.
Human Mutation, 2010
Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I.
Nilsson SC et al.
European Journal of Immunology, 2010
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.
Caprioli J et al.
Blood, 2006
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.
Fremeaux-Bacchi V et al.
Journal of the American Society of Nephrology : Jasn, 2006