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182 related items for PubMed ID: 22153652

  • 1. Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS.
    Ermini L, Goodship TH, Strain L, Weale ME, Sacks SH, Cordell HJ, Fremeaux-Bacchi V, Sheerin NS.
    Mol Immunol; 2012 Jan; 49(4):640-8. PubMed ID: 22153652
    [Abstract] [Full Text] [Related]

  • 2. 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 14; 115(2):379-87. PubMed ID: 19861685
    [Abstract] [Full Text] [Related]

  • 3. Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus.
    Jönsen A, Nilsson SC, Ahlqvist E, Svenungsson E, Gunnarsson I, Eriksson KG, Bengtsson A, Zickert A, Eloranta ML, Truedsson L, Rönnblom L, Nordmark G, Sturfelt G, Blom AM.
    Arthritis Res Ther; 2011 Jan 14; 13(6):R206. PubMed ID: 22171659
    [Abstract] [Full Text] [Related]

  • 4. Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
    Bresin E, Rurali E, Caprioli J, Sanchez-Corral P, Fremeaux-Bacchi V, Rodriguez de Cordoba S, Pinto S, Goodship TH, Alberti M, Ribes D, Valoti E, Remuzzi G, Noris M, European Working Party on Complement Genetics in Renal Diseases.
    J Am Soc Nephrol; 2013 Feb 14; 24(3):475-86. PubMed ID: 23431077
    [Abstract] [Full Text] [Related]

  • 5. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
    Maga TK, Nishimura CJ, Weaver AE, Frees KL, Smith RJ.
    Hum Mutat; 2010 Jun 14; 31(6):E1445-60. PubMed ID: 20513133
    [Abstract] [Full Text] [Related]

  • 6. 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 14; 5(10):1844-59. PubMed ID: 20595690
    [Abstract] [Full Text] [Related]

  • 7. [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 14; 32(4):232-40. PubMed ID: 21376430
    [Abstract] [Full Text] [Related]

  • 8. Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy.
    Wilson V, Darlay R, Wong W, Wood KM, McFarlane J, Schejbel L, Schmidt IM, Harris CL, Tellez J, Hunze EM, Marchbank K, Goodship JA, Goodship TH.
    Am J Kidney Dis; 2013 Nov 14; 62(5):978-83. PubMed ID: 23870792
    [Abstract] [Full Text] [Related]

  • 9. The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.
    Martinez-Barricarte R, Pianetti G, Gautard R, Misselwitz J, Strain L, Fremeaux-Bacchi V, Skerka C, Zipfel PF, Goodship T, Noris M, Remuzzi G, de Cordoba SR, European Working Party on the Genetics of HUS.
    J Am Soc Nephrol; 2008 Mar 14; 19(3):639-46. PubMed ID: 18235085
    [Abstract] [Full Text] [Related]

  • 10. The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts.
    Fremeaux-Bacchi V, Kemp EJ, Goodship JA, Dragon-Durey MA, Strain L, Loirat C, Deng HW, Goodship TH.
    J Med Genet; 2005 Nov 14; 42(11):852-6. PubMed ID: 15784724
    [Abstract] [Full Text] [Related]

  • 11. Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.
    Szarvas N, Szilágyi Á, Csuka D, Takács B, Rusai K, Müller T, Arbeiter K, Réti M, Haris Á, Wagner L, Török S, Kelen K, Szabó AJ, Reusz GS, Morgan BP, Prohászka Z.
    Mol Immunol; 2016 Mar 14; 71():10-22. PubMed ID: 26826462
    [Abstract] [Full Text] [Related]

  • 12. Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.
    Valoti E, Alberti M, Iatropoulos P, Piras R, Mele C, Breno M, Cremaschi A, Bresin E, Donadelli R, Alizzi S, Amoroso A, Benigni A, Remuzzi G, Noris M.
    Front Immunol; 2019 Mar 14; 10():853. PubMed ID: 31118930
    [Abstract] [Full Text] [Related]

  • 13. Complement genes strongly predict recurrence and graft outcome in adult renal transplant recipients with atypical hemolytic and uremic syndrome.
    Le Quintrec M, Zuber J, Moulin B, Kamar N, Jablonski M, Lionet A, Chatelet V, Mousson C, Mourad G, Bridoux F, Cassuto E, Loirat C, Rondeau E, Delahousse M, Frémeaux-Bacchi V.
    Am J Transplant; 2013 Mar 14; 13(3):663-75. PubMed ID: 23356914
    [Abstract] [Full Text] [Related]

  • 14. 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 14; 44(12):3162-7. PubMed ID: 17368771
    [Abstract] [Full Text] [Related]

  • 15. 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 14; 25(7):2195-202. PubMed ID: 20106822
    [Abstract] [Full Text] [Related]

  • 16. Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
    Osborne AJ, Breno M, Borsa NG, Bu F, Frémeaux-Bacchi V, Gale DP, van den Heuvel LP, Kavanagh D, Noris M, Pinto S, Rallapalli PM, Remuzzi G, Rodríguez de Cordoba S, Ruiz A, Smith RJH, Vieira-Martins P, Volokhina E, Wilson V, Goodship THJ, Perkins SJ.
    J Immunol; 2018 Apr 01; 200(7):2464-2478. PubMed ID: 29500241
    [Abstract] [Full Text] [Related]

  • 17. Rapid recovery of membrane cofactor protein (MCP; CD46) associated atypical haemolytic uraemic syndrome with plasma exchange.
    Reid VL, Mullan A, Erwig LP.
    BMJ Case Rep; 2013 Sep 04; 2013():. PubMed ID: 24005975
    [Abstract] [Full Text] [Related]

  • 18. Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.
    Esparza-Gordillo J, Jorge EG, Garrido CA, Carreras L, López-Trascasa M, Sánchez-Corral P, de Córdoba SR.
    Mol Immunol; 2006 Apr 04; 43(11):1769-75. PubMed ID: 16386793
    [Abstract] [Full Text] [Related]

  • 19. 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 04; 67(2 Pt B):276-86. PubMed ID: 26163426
    [Abstract] [Full Text] [Related]

  • 20. CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans.
    Contreras AV, Zenteno JC, Fernández-López JC, Rodríguez-Corona U, Falfán-Valencia R, Sebastian L, Morales F, Ochoa-Contreras D, Carnevale A, Silva-Zolezzi I.
    Mol Vis; 2014 Oct 04; 20():105-16. PubMed ID: 24453474
    [Abstract] [Full Text] [Related]

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