Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Disease Progression in Age-Related Macular Degeneration Patients Carrying Rare Variants in the Complement Factor H or Complement Factor I Genes.
Cinque F et al.
Investigative Ophthalmology & Visual Science, 2025
Kidney Transplantation in Patients With aHUS: A Comparison of Eculizumab Prophylaxis Versus Rescue Therapy.
Duineveld C et al.
Transplantation, 2025
Shiga toxin-producing Escherichia coli infection as a precipitating factor for atypical hemolytic-uremic syndrome.
Mortari G et al.
Pediatric Nephrology (berlin, Germany), 2025
Anti-CFH-associated hemolytic uremic syndrome: do we still need plasma exchange?
Ferri M et al.
Pediatric Nephrology (berlin, Germany), 2024
Ex Vivo Test of Complement Dysregulation in Atypical Hemolytic Uremic Syndrome Kidney Transplant patients: A Pilot Study.
Duineveld C et al.
Kidney International Reports, 2024
The human factor H protein family - an update.
Sándor N et al.
Frontiers in Immunology, 2024
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome.
Glover EK et al.
Transplantation, 2023
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.
Acosta-Medina AA et al.
Blood Advances, 2023
Early Eculizumab Withdrawal in Patients With Atypical Hemolytic Uremic Syndrome in Native Kidneys Is Safe and Cost-Effective: Results of the CUREiHUS Study.
Bouwmeester RN et al.
Kidney International Reports, 2023
Genetic investigation of Nordic patients with complement-mediated kidney diseases.
Rydberg V et al.
Frontiers in Immunology, 2023
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 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
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.
Sobel Naveh NS et al.
Hepatology Communications, 2022
Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.
Gavriilaki E et al.
Current Issues in Molecular Biology, 2022
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
de Jong S et al.
Human Molecular Genetics, 2022
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
Analysis of hemopexin plasma levels in patients with age-related macular degeneration.
Lauwen S et al.
Molecular Vision, 2022
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Martín Merinero H et al.
Blood, 2021
Genetic Risk in Families with Age-Related Macular Degeneration.
de Breuk A et al.
Ophthalmology Science, 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
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
Lorés-Motta L et al.
American Journal of Human Genetics, 2021
Genetic and molecular evidence for complement dysregulation in patients with HELLP syndrome.
Bazzan M et al.
Thrombosis Research, 2020
Exome sequencing for diagnosis of congenital hemolytic anemia.
Mansour-Hendili L et al.
Orphanet Journal of Rare Diseases, 2020
Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy.
Aigner C et al.
Journal of Clinical Medicine, 2020
Diagnostic and Risk Factors for Complement Defects in Hypertensive Emergency and Thrombotic Microangiopathy.
Timmermans SAMEG et al.
Hypertension (dallas, Tex. : 1979), 2020
C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy.
Garam N et al.
Orphanet Journal of Rare Diseases, 2019
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Taylor RL et al.
Ophthalmology, 2019
Complement Gene Variants and Shiga Toxin-Producing Escherichia coli-Associated Hemolytic Uremic Syndrome: Retrospective Genetic and Clinical Study.
Frémeaux-Bacchi V et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2019
Mother and Child Reunion in "Hypertensive" End-Stage Renal Disease: Will They Complement Each Other?
Timmermans SAMEG et al.
Nephron, 2019
Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.
Valoti E et al.
Frontiers in Immunology, 2019
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.
Bu F et al.
Journal of the American Society of Nephrology : Jasn, 2018
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
Diagnostic Utility of Complement Serology for Atypical Hemolytic Uremic Syndrome.
Sridharan M et al.
Mayo Clinic Proceedings, 2018
C5b9 Formation on Endothelial Cells Reflects Complement Defects among Patients with Renal Thrombotic Microangiopathy and Severe Hypertension.
Timmermans SAMEG et al.
Journal of the American Society of Nephrology : Jasn, 2018