Associated Papers
Atypical hemolytic uremic syndrome with a C3 variant following COVID-19: a case report.
Ando M et al.
Frontiers in Pediatrics, 2025
Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.
Seddon JM et al.
Investigative Ophthalmology & Visual Science, 2024
Aberrant Lipid Metabolism and Complement Activation in Age-Related Macular Degeneration.
Tang S et al.
Investigative Ophthalmology & Visual Science, 2024
Genetic Insights into Age-Related Macular Degeneration.
Bhumika et al.
Biomedicines, 2024
Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.
Acar IE et al.
Investigative Ophthalmology & Visual Science, 2023
Atypical HUS with multiple complement system mutations triggered by synthetic psychoactive drug abuse: a case report.
Jelicic I et al.
Journal of Nephrology, 2023
Family History of Age-Related Macular Degeneration and Genetics Predict Progression to Advanced Age-Related Macular Degeneration Adjusting for Macular Status, Demographic, and Lifestyle Factors.
Seddon JM et al.
American Journal of Ophthalmology, 2023
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
Rare Variants in Complement Genes May Not Be That Rare After All.
Timmermans SAMEG et al.
Kidney International Reports, 2023
Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes.
Fan Q et al.
Nature Communications, 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
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Ophthalmology Science, 2023
Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration.
Huan T et al.
Ophthalmology Science, 2023
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.
Acosta-Medina AA et al.
Blood Advances, 2023
An update on the pathogenesis and diagnosis of thrombotic thrombocytopenic purpura.
Gómez-Seguí I et al.
Expert Review of Hematology, 2023
Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration.
Seddon JM et al.
Frontiers in Genetics, 2023
Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients.
Wąsowska A et al.
Journal of Clinical Medicine, 2022
Systems genomics in age-related macular degeneration.
den Hollander AI et al.
Experimental Eye Research, 2022
Clinical Utility and Potential Cost Savings of Pharmacologic Monitoring of Eculizumab for Complement-Mediated Thrombotic Microangiopathy.
Sridharan M et al.
Mayo Clinic Proceedings. Innovations, Quality & Outcomes, 2022
Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.
Farinha C et al.
Investigative Ophthalmology & Visual Science, 2022
Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy.
Haydock L et al.
Journal of Molecular Medicine (berlin, Germany), 2022
Gene polymorphisms associated with an increased risk of exudative age-related macular degeneration in a Spanish population.
Gili P et al.
European Journal of Ophthalmology, 2022
Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.
Acar IE et al.
Journal of Personalized Medicine, 2021
Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.
de Breuk A et al.
Jama Ophthalmology, 2021
Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Investigative Ophthalmology & Visual Science, 2020
The natural course of pregnancies in women with primary atypical haemolytic uraemic syndrome and asymptomatic relatives.
Timmermans SAMEG et al.
British Journal of Haematology, 2020
NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future.
Wright C et al.
Translational Vision Science & Technology, 2020
Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.
Merle BMJ et al.
Investigative Ophthalmology & Visual Science, 2020
Diagnostic and Risk Factors for Complement Defects in Hypertensive Emergency and Thrombotic Microangiopathy.
Timmermans SAMEG et al.
Hypertension (dallas, Tex. : 1979), 2020
Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.
Shoshany N et al.
Genes, 2019
Atypical and secondary hemolytic uremic syndromes have a distinct presentation and no common genetic risk factors.
Le Clech A et al.
Kidney International, 2019
Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals.
Seddon JM et al.
American Journal of Ophthalmology, 2019
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
Geerlings MJ et al.
Clinical Genetics, 2018
C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic.
Ravindran A et al.
Mayo Clinic Proceedings, 2018
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.
Douillard A et al.
Scientific Reports, 2018
Genetics and genetic testing for age-related macular degeneration.
Warwick A et al.
Eye (london, England), 2018
Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.
Kremer Hovinga JA et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy.
Larsen CP et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018
Geographic distribution of rare variants associated with age-related macular degeneration.
Geerlings MJ et al.
Molecular Vision, 2018
Analysis of C3 Gene Variants in Patients With Idiopathic Recurrent Spontaneous Pregnancy Loss.
Mohlin FC et al.
Frontiers in Immunology, 2018
Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine.
Maugeri A et al.
Biomed Research International, 2018
Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians.
Fan Q et al.
Journal of Human Genetics, 2017
Acquired Complement Regulatory Gene Mutations and Hematopoietic Stem Cell Transplant-Related Thrombotic Microangiopathy.
Ardissino G et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2017
THE PATHOPHYSIOLOGY OF GEOGRAPHIC ATROPHY SECONDARY TO AGE-RELATED MACULAR DEGENERATION AND THE COMPLEMENT PATHWAY AS A THERAPEUTIC TARGET.
Boyer DS et al.
Retina (philadelphia, Pa.), 2017
The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.
Geerlings MJ et al.
Molecular Immunology, 2017
Complement Dysregulation and Disease: Insights from Contemporary Genetics.
Liszewski MK et al.
Annual Review of Pathology, 2017