Associated Papers
Multisystem involvement with ischemic complications in a child with STEC-HUS: a case of gangrene.
Meni Battaglia L et al.
Pediatric Nephrology (berlin, Germany), 2026
Structural and functional consequences of aspartate/asparagine-β-hydroxylase variants causing Traboulsi syndrome.
Hou CX et al.
The Journal of Biological Chemistry, 2025
Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.
Cao W et al.
Blood Vessels, Thrombosis & Hemostasis, 2024
[Clinical characteristics and genetic profile of complement system in renal thrombotic microangiopathy in patients with severe forms of arterial hypertension].
Akaeva MI et al.
Terapevticheskii Arkhiv, 2024
Functional evaluation of rare variants in complement factor I using a minigene assay.
Donelson CJH et al.
Frontiers in Immunology, 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
Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE.
Charras A et al.
Rheumatology (oxford, England), 2023
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
Molecular Genetic Mechanisms in Age-Related Macular Degeneration.
Shughoury A et al.
Genes, 2022
Stepwise ABC system for classification of any type of genetic variant.
Houge G et al.
European Journal of Human Genetics : Ejhg, 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 Factor I Variants in Complement-Mediated Renal Diseases.
Zhang Y et al.
Frontiers in Immunology, 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
Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality.
Ardissino G et al.
Kidney International Reports, 2021
Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.
Shoshany N et al.
Genes, 2019
Hyperfunctional complement C3 promotes C5-dependent atypical hemolytic uremic syndrome in mice.
Smith-Jackson K et al.
The Journal of Clinical Investigation, 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
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
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
Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.
Gleeson PJ et al.
Immunobiology, 2016
Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.
Forneris F et al.
The Embo Journal, 2016
[The genetic variability of complement system in pathogenesis of age-related macular degeneration].
Kubicka-Trząska A et al.
Klinika Oczna, 2015
Genetic variants in the complement system predisposing to age-related macular degeneration: a review.
Schramm EC et al.
Molecular Immunology, 2014
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Analysis of rare variants in the C3 gene in patients with age-related macular degeneration.
Duvvari MR et al.
Plos One, 2014
Thrombotic microangiopathy mimicking membranoproliferative glomerulonephritis.
Brackman D et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2011
[Clinicomorphological characteristics of renal disorders in patients with genetic thrombophilia].
Kozlovskaia NL et al.
Terapevticheskii Arkhiv, 2009
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.
Frémeaux-Bacchi V et al.
Blood, 2008