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5. A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome. Francis NJ; McNicholas B; Awan A; Waldron M; Reddan D; Sadlier D; Kavanagh D; Strain L; Marchbank KJ; Harris CL; Goodship TH Blood; 2012 Jan; 119(2):591-601. PubMed ID: 22058112 [TBL] [Abstract][Full Text] [Related]
6. Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. Zipfel PF; Edey M; Heinen S; Józsi M; Richter H; Misselwitz J; Hoppe B; Routledge D; Strain L; Hughes AE; Goodship JA; Licht C; Goodship TH; Skerka C PLoS Genet; 2007 Mar; 3(3):e41. PubMed ID: 17367211 [TBL] [Abstract][Full Text] [Related]
7. The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. Dragon-Durey MA; Blanc C; Marliot F; Loirat C; Blouin J; Sautes-Fridman C; Fridman WH; Frémeaux-Bacchi V J Med Genet; 2009 Jul; 46(7):447-50. PubMed ID: 19435718 [TBL] [Abstract][Full Text] [Related]
8. Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome. Hofer J; Janecke AR; Zimmerhackl LB; Riedl M; Rosales A; Giner T; Cortina G; Haindl CJ; Petzelberger B; Pawlik M; Jeller V; Vester U; Gadner B; van Husen M; Moritz ML; Würzner R; Jungraithmayr T; Clin J Am Soc Nephrol; 2013 Mar; 8(3):407-15. PubMed ID: 23243267 [TBL] [Abstract][Full Text] [Related]
9. The decay accelerating factor mutation I197V found in hemolytic uraemic syndrome does not impair complement regulation. Kavanagh D; Burgess R; Spitzer D; Richards A; Diaz-Torres ML; Goodship JA; Hourcade DE; Atkinson JP; Goodship TH Mol Immunol; 2007 May; 44(12):3162-7. PubMed ID: 17368771 [TBL] [Abstract][Full Text] [Related]
10. Case report: A family of atypical hemolytic uremic syndrome involving a Tasaki Y; Tsujimoto H; Yokoyama T; Sugimoto N; Kitajima S; Fujii H; Hidaka Y; Kato N; Maruyama S; Inoue N; Wada T Front Immunol; 2024; 15():1360855. PubMed ID: 38524137 [TBL] [Abstract][Full Text] [Related]
11. Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency. Lee BH; Kwak SH; Shin JI; Lee SH; Choi HJ; Kang HG; Ha IS; Lee JS; Dragon-Durey MA; Choi Y; Cheong HI Pediatr Res; 2009 Sep; 66(3):336-40. PubMed ID: 19531976 [TBL] [Abstract][Full Text] [Related]
12. Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479. Chaudhary P; Hepgur M; Sarkissian S; Smith RJ; Weitz IC Blood Transfus; 2014 Jan; 12(1):111-3. PubMed ID: 24333077 [No Abstract] [Full Text] [Related]
13. CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome. Sugawara Y; Kato H; Nagasaki M; Yoshida Y; Fujisawa M; Minegishi N; Yamamoto M; Nangaku M J Hum Genet; 2023 Jun; 68(6):427-430. PubMed ID: 36755127 [TBL] [Abstract][Full Text] [Related]
14. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Noris M; Caprioli J; Bresin E; Mossali C; Pianetti G; Gamba S; Daina E; Fenili C; Castelletti F; Sorosina A; Piras R; Donadelli R; Maranta R; van der Meer I; Conway EM; Zipfel PF; Goodship TH; Remuzzi G Clin J Am Soc Nephrol; 2010 Oct; 5(10):1844-59. PubMed ID: 20595690 [TBL] [Abstract][Full Text] [Related]
15. Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome. Goicoechea de Jorge E; Tortajada A; García SP; Gastoldi S; Merinero HM; García-Fernández J; Arjona E; Cao M; Remuzzi G; Noris M; Rodríguez de Córdoba S J Am Soc Nephrol; 2018 Jan; 29(1):240-249. PubMed ID: 28993505 [TBL] [Abstract][Full Text] [Related]
16. [Atypical hemolytic-uremic syndrome related to abnormalities within the complement system]. Frémeaux-Bacchi V; Fakhouri F; Roumenina L; Dragon-Durey MA; Loirat C Rev Med Interne; 2011 Apr; 32(4):232-40. PubMed ID: 21376430 [TBL] [Abstract][Full Text] [Related]
17. Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Moore I; Strain L; Pappworth I; Kavanagh D; Barlow PN; Herbert AP; Schmidt CQ; Staniforth SJ; Holmes LV; Ward R; Morgan L; Goodship TH; Marchbank KJ Blood; 2010 Jan; 115(2):379-87. PubMed ID: 19861685 [TBL] [Abstract][Full Text] [Related]
18. Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS). Westra D; Volokhina E; van der Heijden E; Vos A; Huigen M; Jansen J; van Kaauwen E; van der Velden T; van de Kar N; van den Heuvel L Nephrol Dial Transplant; 2010 Jul; 25(7):2195-202. PubMed ID: 20106822 [TBL] [Abstract][Full Text] [Related]
19. The major autoantibody epitope on factor H in atypical hemolytic uremic syndrome is structurally different from its homologous site in factor H-related protein 1, supporting a novel model for induction of autoimmunity in this disease. Bhattacharjee A; Reuter S; Trojnár E; Kolodziejczyk R; Seeberger H; Hyvärinen S; Uzonyi B; Szilágyi Á; Prohászka Z; Goldman A; Józsi M; Jokiranta TS J Biol Chem; 2015 Apr; 290(15):9500-10. PubMed ID: 25659429 [TBL] [Abstract][Full Text] [Related]
20. Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome. Bernabéu-Herrero ME; Jiménez-Alcázar M; Anter J; Pinto S; Sánchez Chinchilla D; Garrido S; López-Trascasa M; Rodríguez de Córdoba S; Sánchez-Corral P Mol Immunol; 2015 Oct; 67(2 Pt B):276-86. PubMed ID: 26163426 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]