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Journal Abstract Search

368 related items for PubMed ID: 24904082

  • 1. A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.
    Valoti E, Alberti M, Tortajada A, Garcia-Fernandez J, Gastoldi S, Besso L, Bresin E, Remuzzi G, Rodriguez de Cordoba S, Noris M.
    J Am Soc Nephrol; 2015 Jan; 26(1):209-19. PubMed ID: 24904082
    [Abstract] [Full Text] [Related]

  • 2. CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.
    Piras R, Valoti E, Alberti M, Bresin E, Mele C, Breno M, Liguori L, Donadelli R, Rigoldi M, Benigni A, Remuzzi G, Noris M.
    Front Immunol; 2022 Jan; 13():1011580. PubMed ID: 36793547
    [Abstract] [Full Text] [Related]

  • 3. Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication.
    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 Jan; 15():1360855. PubMed ID: 38524137
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 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 12; 119(2):591-601. PubMed ID: 22058112
    [Abstract] [Full Text] [Related]

  • 6. A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome.
    Eyler SJ, Meyer NC, Zhang Y, Xiao X, Nester CM, Smith RJ.
    Pediatr Nephrol; 2013 Nov 12; 28(11):2221-5. PubMed ID: 23880784
    [Abstract] [Full Text] [Related]

  • 7. Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
    Venables JP, Strain L, Routledge D, Bourn D, Powell HM, Warwicker P, Diaz-Torres ML, Sampson A, Mead P, Webb M, Pirson Y, Jackson MS, Hughes A, Wood KM, Goodship JA, Goodship TH.
    PLoS Med; 2006 Oct 12; 3(10):e431. PubMed ID: 17076561
    [Abstract] [Full Text] [Related]

  • 8. 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 12; 68(6):427-430. PubMed ID: 36755127
    [Abstract] [Full Text] [Related]

  • 9. 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 Jun 12; 10():853. PubMed ID: 31118930
    [Abstract] [Full Text] [Related]

  • 10. 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, German-Austrian HUS Study Group.
    Clin J Am Soc Nephrol; 2013 Mar 12; 8(3):407-15. PubMed ID: 23243267
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  • 12. Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome.
    Abarrategui-Garrido C, Martínez-Barricarte R, López-Trascasa M, de Córdoba SR, Sánchez-Corral P.
    Blood; 2009 Nov 05; 114(19):4261-71. PubMed ID: 19745068
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  • 14. Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing.
    Tschernoster N, Erger F, Walsh PR, McNicholas B, Fistrek M, Habbig S, Schumacher AL, Folz-Donahue K, Kukat C, Toliat MR, Becker C, Thiele H, Kavanagh D, Nürnberg P, Beck BB, Altmüller J.
    J Mol Diagn; 2022 Jun 05; 24(6):619-631. PubMed ID: 35398599
    [Abstract] [Full Text] [Related]

  • 15.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Noris M, Bresin E, Mele C, Remuzzi G.
    ; 1993 Jun 05. PubMed ID: 20301541
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  • 16. Copy number variation analysis using next-generation sequencing identifies the CFHR3/CFHR1 deletion in atypical hemolytic uremic syndrome: a case report.
    Park J, Yhim HY, Kang KP, Bae TW, Cho YG.
    Hematology; 2022 Dec 05; 27(1):603-608. PubMed ID: 35617302
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  • 18. 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 16; 3(3):e41. PubMed ID: 17367211
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