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Journal Abstract Search

288 related items for PubMed ID: 11170895

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  • 3. Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate.
    Cho HY, Lee BS, Moon KC, Ha IS, Cheong HI, Choi Y.
    Pediatr Nephrol; 2007 Jun; 22(6):874-80. PubMed ID: 17295030
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  • 4. Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.
    Caprioli J, Castelletti F, Bucchioni S, Bettinaglio P, Bresin E, Pianetti G, Gamba S, Brioschi S, Daina E, Remuzzi G, Noris M, International Registry of Recurrent and Familial HUS/TTP.
    Hum Mol Genet; 2003 Dec 15; 12(24):3385-95. PubMed ID: 14583443
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  • 5. 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 15; 5(10):1844-59. PubMed ID: 20595690
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  • 6. Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding.
    Volokhina E, Westra D, Xue X, Gros P, van de Kar N, van den Heuvel L.
    Pediatr Nephrol; 2012 Sep 15; 27(9):1519-24. PubMed ID: 22669319
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  • 7. Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries.
    Neumann HP, Salzmann M, Bohnert-Iwan B, Mannuelian T, Skerka C, Lenk D, Bender BU, Cybulla M, Riegler P, Königsrainer A, Neyer U, Bock A, Widmer U, Male DA, Franke G, Zipfel PF.
    J Med Genet; 2003 Sep 15; 40(9):676-81. PubMed ID: 12960213
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  • 10. De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.
    Heinen S, Sanchez-Corral P, Jackson MS, Strain L, Goodship JA, Kemp EJ, Skerka C, Jokiranta TS, Meyers K, Wagner E, Robitaille P, Esparza-Gordillo J, Rodriguez de Cordoba S, Zipfel PF, Goodship TH.
    Hum Mutat; 2006 Mar 15; 27(3):292-3. PubMed ID: 16470555
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  • 11. 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 15; 19(3):639-46. PubMed ID: 18235085
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  • 12. [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 15; 32(4):232-40. PubMed ID: 21376430
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  • 13. Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.
    Ying L, Katz Y, Schlesinger M, Carmi R, Shalev H, Haider N, Beck G, Sheffield VC, Landau D.
    Am J Hum Genet; 1999 Dec 15; 65(6):1538-46. PubMed ID: 10577907
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  • 14. The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.
    Caprioli J, Bettinaglio P, Zipfel PF, Amadei B, Daina E, Gamba S, Skerka C, Marziliano N, Remuzzi G, Noris M.
    J Am Soc Nephrol; 2001 Feb 15; 12(2):297-307. PubMed ID: 11158219
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  • 16. Atypical hemolytic uremic syndrome.
    Loirat C, Frémeaux-Bacchi V.
    Orphanet J Rare Dis; 2011 Sep 08; 6():60. PubMed ID: 21902819
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  • 17. The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.
    Saunders RE, Abarrategui-Garrido C, Frémeaux-Bacchi V, Goicoechea de Jorge E, Goodship TH, López Trascasa M, Noris M, Ponce Castro IM, Remuzzi G, Rodríguez de Córdoba S, Sánchez-Corral P, Skerka C, Zipfel PF, Perkins SJ.
    Hum Mutat; 2007 Mar 08; 28(3):222-34. PubMed ID: 17089378
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  • 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 08; 43(11):1769-75. PubMed ID: 16386793
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  • 19. Recognition of malondialdehyde-modified proteins by the C terminus of complement factor H is mediated via the polyanion binding site and impaired by mutations found in atypical hemolytic uremic syndrome.
    Hyvärinen S, Uchida K, Varjosalo M, Jokela R, Jokiranta TS.
    J Biol Chem; 2014 Feb 14; 289(7):4295-306. PubMed ID: 24344133
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  • 20. The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.
    Ferreira VP, Herbert AP, Cortés C, McKee KA, Blaum BS, Esswein ST, Uhrín D, Barlow PN, Pangburn MK, Kavanagh D.
    J Immunol; 2009 Jun 01; 182(11):7009-18. PubMed ID: 19454698
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