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199 related items for PubMed ID: 34189567

  • 1. Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
    Martín Merinero H, Zhang Y, Arjona E, Del Angel G, Goodfellow R, Gomez-Rubio E, Ji RR, Michelena M, Smith RJH, Rodríguez de Córdoba S.
    Blood; 2021 Dec 02; 138(22):2185-2201. PubMed ID: 34189567
    [Abstract] [Full Text] [Related]

  • 2. Complete functional characterization of disease-associated genetic variants in the complement factor H gene.
    Merinero HM, García SP, García-Fernández J, Arjona E, Tortajada A, Rodríguez de Córdoba S.
    Kidney Int; 2018 Feb 02; 93(2):470-481. PubMed ID: 28941939
    [Abstract] [Full Text] [Related]

  • 3. 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 02; 29(1):240-249. PubMed ID: 28993505
    [Abstract] [Full Text] [Related]

  • 4. 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 02; 67(2 Pt B):276-86. PubMed ID: 26163426
    [Abstract] [Full Text] [Related]

  • 5. Disturbed sialic acid recognition on endothelial cells and platelets in complement attack causes atypical hemolytic uremic syndrome.
    Hyvärinen S, Meri S, Jokiranta TS.
    Blood; 2016 Jun 02; 127(22):2701-10. PubMed ID: 27006390
    [Abstract] [Full Text] [Related]

  • 6. 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 02; 10():853. PubMed ID: 31118930
    [Abstract] [Full Text] [Related]

  • 7. Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.
    Bu F, Zhang Y, Wang K, Borsa NG, Jones MB, Taylor AO, Takanami E, Meyer NC, Frees K, Thomas CP, Nester C, Smith RJH.
    J Am Soc Nephrol; 2018 Dec 02; 29(12):2809-2819. PubMed ID: 30377230
    [Abstract] [Full Text] [Related]

  • 8. High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3*B.
    Pouw RB, Gómez Delgado I, López Lera A, Rodríguez de Córdoba S, Wouters D, Kuijpers TW, Sánchez-Corral P.
    Front Immunol; 2018 Dec 02; 9():848. PubMed ID: 29740447
    [Abstract] [Full Text] [Related]

  • 9. Complement Genetic Variants and FH Desialylation in S. pneumoniae-Haemolytic Uraemic Syndrome.
    Gómez Delgado I, Corvillo F, Nozal P, Arjona E, Madrid Á, Melgosa M, Bravo J, Szilágyi Á, Csuka D, Veszeli N, Prohászka Z, Sánchez-Corral P.
    Front Immunol; 2021 Dec 02; 12():641656. PubMed ID: 33777036
    [Abstract] [Full Text] [Related]

  • 10. Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD.
    Wong EKS, Hallam TM, Brocklebank V, Walsh PR, Smith-Jackson K, Shuttleworth VG, Cox TE, Anderson HE, Barlow PN, Marchbank KJ, Harris CL, Kavanagh D.
    Front Immunol; 2020 Dec 02; 11():602284. PubMed ID: 33519811
    [Abstract] [Full Text] [Related]

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  • 12. Unraveling the Effect of a Potentiating Anti-Factor H Antibody on Atypical Hemolytic Uremic Syndrome-Associated Factor H Variants.
    Dekkers G, Brouwer MC, Jeremiasse J, Kamp A, Biggs RM, van Mierlo G, Lauder S, Katti S, Kuijpers TW, Rispens T, Jongerius I.
    J Immunol; 2020 Oct 01; 205(7):1778-1786. PubMed ID: 32848031
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 01; 26(1):209-19. PubMed ID: 24904082
    [Abstract] [Full Text] [Related]

  • 15. Clinical and Genetic Characteristics of Atypical Hemolytic Uremic Syndrome in Children: A Chinese Cohort Study.
    Wu D, Chen J, Ling C, Chen Z, Fan J, Sun Q, Meng Q, Liu X.
    Nephron; 2021 Jan 01; 145(4):415-427. PubMed ID: 33873197
    [Abstract] [Full Text] [Related]

  • 16. Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
    Geerlings MJ, Volokhina EB, de Jong EK, van de Kar N, Pauper M, Hoyng CB, van den Heuvel LP, den Hollander AI.
    Clin Genet; 2018 Oct 01; 94(3-4):330-338. PubMed ID: 29888403
    [Abstract] [Full Text] [Related]

  • 17. The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome.
    Martínez-Barricarte R, Heurich M, López-Perrote A, Tortajada A, Pinto S, López-Trascasa M, Sánchez-Corral P, Morgan BP, Llorca O, Harris CL, Rodríguez de Córdoba S.
    Mol Immunol; 2015 Aug 01; 66(2):263-73. PubMed ID: 25879158
    [Abstract] [Full Text] [Related]

  • 18. Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
    Connaughton DM, Bhai P, Isenring P, Mahdi M, Sadikovic B, Schenkel LC.
    J Mol Med (Berl); 2023 Aug 01; 101(8):1029-1040. PubMed ID: 37466676
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 71():10-22. PubMed ID: 26826462
    [Abstract] [Full Text] [Related]

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