Associated Papers
Kidney Transplantation in Patients With aHUS: A Comparison of Eculizumab Prophylaxis Versus Rescue Therapy.
Duineveld C et al.
Transplantation, 2025
Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.
Wąsowska A et al.
Genes, 2023
Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome.
Glover EK et al.
Transplantation, 2023
Novel Complement Factor B Gene Mutation Identified in a Kidney Transplant Recipient with a Shiga Toxin-Triggered Episode of Thrombotic Microangiopathy.
Korzycka J et al.
The American Journal of Case Reports, 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
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
Complement-Amplifying Conditions in Atypical Hemolytic Uremic Syndrome: A Canadian Case Series.
Patriquin CJ et al.
Canadian Journal of Kidney Health and Disease, 2022
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
Atypical hemolytic uremic syndrome and acute tubular necrosis induced by complement factor B gene (CFB) mutation: A case report.
Wu H et al.
Medicine, 2021
Atypical hemolytic uremic syndrome associated with a factor B genetic variant and fluid-phase complement activation: an exception to the rule?
Noris M et al.
Kidney International, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations.
Thergaonkar RW et al.
Clinical and Experimental Nephrology, 2018
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Osborne AJ et al.
Journal of Immunology (baltimore, Md. : 1950), 2018
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
Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.
Gleeson PJ et al.
Immunobiology, 2016
Diabetic ketoacidosis presenting with atypical hemolytic uremic syndrome associated with a variant of complement factor B in an adult: a case report.
Zhu Z et al.
Journal of Medical Case Reports, 2016
Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic Syndrome.
Zhang T et al.
American Journal of Nephrology, 2016
A complement factor B mutation in a large kindred with atypical hemolytic uremic syndrome.
Funato M et al.
Journal of Clinical Immunology, 2014
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Haiman CA et al.
Plos Genetics, 2013
Analysis of candidate genes for macular telangiectasia type 2.
Parmalee NL et al.
Molecular Vision, 2010
A novel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome.
Tawadrous H et al.
Pediatric Nephrology (berlin, Germany), 2010
Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review.
Chhakchhuak M et al.
Indian Journal of Nephrology, 0
A Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and Systematic Review.
Peng W et al.
Case Reports in Nephrology and Dialysis, 0