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Journal Abstract Search

225 related items for PubMed ID: 35619721

  • 1. Complement Factor I Variants in Complement-Mediated Renal Diseases.
    Zhang Y, Goodfellow RX, Ghiringhelli Borsa N, Dunlop HC, Presti SA, Meyer NC, Shao D, Roberts SM, Jones MB, Pitcher GR, Taylor AO, Nester CM, Smith RJH.
    Front Immunol; 2022; 13():866330. PubMed ID: 35619721
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  • 4. 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
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  • 7. 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 01; 93(2):470-481. PubMed ID: 28941939
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  • 8. 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 Feb 01; 11():602284. PubMed ID: 33519811
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  • 9. Overactivity of Alternative Pathway Convertases in Patients With Complement-Mediated Renal Diseases.
    Michels MAHM, van de Kar NCAJ, Okrój M, Blom AM, van Kraaij SAW, Volokhina EB, van den Heuvel LPWJ.
    Front Immunol; 2018 Feb 01; 9():612. PubMed ID: 29670616
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  • 10. [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 01; 32(4):232-40. PubMed ID: 21376430
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  • 11. C4 Nephritic Factors in C3 Glomerulopathy: A Case Series.
    Zhang Y, Meyer NC, Fervenza FC, Lau W, Keenan A, Cara-Fuentes G, Shao D, Akber A, Fremeaux-Bacchi V, Sethi S, Nester CM, Smith RJH.
    Am J Kidney Dis; 2017 Dec 01; 70(6):834-843. PubMed ID: 28838767
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  • 12. A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration.
    Hallam TM, Cox TE, Smith-Jackson K, Brocklebank V, Baral AJ, Tzoumas N, Steel DH, Wong EKS, Shuttleworth VG, Lotery AJ, Harris CL, Marchbank KJ, Kavanagh D.
    Front Immunol; 2022 Dec 01; 13():1028760. PubMed ID: 36643920
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  • 13. Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant.
    Piras R, Iatropoulos P, Bresin E, Todeschini M, Gastoldi S, Valoti E, Alberti M, Mele C, Galbusera M, Cuccarolo P, Benigni A, Remuzzi G, Noris M.
    Front Med (Lausanne); 2020 Dec 01; 7():579418. PubMed ID: 33224962
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  • 14. Distinct genetic profile with recurrent population-specific missense variants in Korean adult atypical hemolytic uremic syndrome.
    Yun JW, Oh J, Lee KO, Lee SJ, Kim JO, Kim NK, Kim JS, Koh Y, Yoon SS, Yhim HY, Jo SK, Park Y, Lee JE, Park J, Lee JW, Kim SH, Kim HJ, Oh D, Korean TTP Registry investigators, aHUS working group.
    Thromb Res; 2020 Oct 01; 194():45-53. PubMed ID: 33213850
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  • 15. 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 01; 29(12):2809-2819. PubMed ID: 30377230
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  • 16.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Martín B, Smith RJH.
    ; 1993 Dec 01. PubMed ID: 20301598
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  • 17. 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 01; 31(6):E1445-60. PubMed ID: 20513133
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  • 18. Variants in complement genes are uncommon in patients with anti-factor H autoantibody-associated atypical hemolytic uremic syndrome.
    Khandelwal P, Joshi A, Mathur A, Puraswani M, Gurjar BS, Sinha A, Hari P, Faruq M, Bagga A.
    Pediatr Nephrol; 2023 Aug 01; 38(8):2659-2668. PubMed ID: 36622444
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  • 19. Genetic investigation of Nordic patients with complement-mediated kidney diseases.
    Rydberg V, Aradottir SS, Kristoffersson AC, Svitacheva N, Karpman D.
    Front Immunol; 2023 Aug 01; 14():1254759. PubMed ID: 37744338
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  • 20. Factor H Autoantibodies and Complement-Mediated Diseases.
    Zhang Y, Ghiringhelli Borsa N, Shao D, Dopler A, Jones MB, Meyer NC, Pitcher GR, Taylor AO, Nester CM, Schmidt CQ, Smith RJH.
    Front Immunol; 2020 Aug 01; 11():607211. PubMed ID: 33384694
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