Associated Papers
Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome.
Ni J et al.
Pediatric Nephrology (berlin, Germany), 2025
Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis.
Jeon H et al.
Plos One, 2025
Analysis of Complement Factor H gene polymorphisms and their association with clinical manifestations ofleptospirosis.
Santiesteban-Lores LE et al.
Immunogenetics, 2024
Genetic, clinical, and pathological study of patients with severe hypertension-associated renal microangiopathy.
Chen X et al.
Journal of Nephrology, 2023
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.
Acosta-Medina AA et al.
Blood Advances, 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Martín Merinero H et al.
Blood, 2021
Renal Damage in Recurrent Atypical Hemolytic Uremic Syndrome Associated with C3 p.Ile1157Thr Gene Mutation.
Okabe M et al.
Internal Medicine (tokyo, Japan), 2021
Distinct genetic profile with recurrent population-specific missense variants in Korean adult atypical hemolytic uremic syndrome.
Yun JW et al.
Thrombosis Research, 2020
Eculizumab for Severe Thrombotic Microangiopathy Secondary to Surgical Invasive Stress and Bleeding.
Fujita Y et al.
Internal Medicine (tokyo, Japan), 2020
Whole-exome sequencing detects mutations in pediatric patients with atypical hemolytic uremic syndrome in Taiwan.
Tseng MH et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Potentiation of complement regulator factor H protects human endothelial cells from complement attack in aHUS sera.
Pouw RB et al.
Blood Advances, 2019
A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.
Sun Y et al.
Frontiers in Genetics, 2019
Genetic analysis of the complement pathway in C3 glomerulopathy.
Zhao W et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 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
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
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
Disease Recurrence After Early Discontinuation of Eculizumab in a Patient With Atypical Hemolytic Uremic Syndrome With Complement C3 I1157T Mutation.
Toyoda H et al.
Journal of Pediatric Hematology/oncology, 2016
Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.
Liu X et al.
Jama Ophthalmology, 2015
A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan.
Yoshida Y et al.
Plos One, 2015
Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: concentration of C3 p.I1157T mutation.
Matsumoto T et al.
International Journal of Hematology, 2014
PhosSNP for systematic analysis of genetic polymorphisms that influence protein phosphorylation.
Ren J et al.
Molecular & Cellular Proteomics : Mcp, 2010
Multiple gene polymorphisms in the complement factor h gene are associated with exudative age-related macular degeneration in chinese.
Ng TK et al.
Investigative Ophthalmology & Visual Science, 2008