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Items: 1 to 20 of 302

1.

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;31(6):E1445-60. doi: 10.1002/humu.21256.

PMID:
20513133
2.

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;44(12):3162-7. Epub 2007 Mar 21.

PMID:
17368771
3.

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;28(3):222-34.

PMID:
17089378
4.

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;25(7):2195-202. doi: 10.1093/ndt/gfq010. Epub 2010 Jan 26.

PMID:
20106822
5.

Complement activation in diseases presenting with thrombotic microangiopathy.

Meri S.

Eur J Intern Med. 2013 Sep;24(6):496-502. doi: 10.1016/j.ejim.2013.05.009. Epub 2013 Jun 4. Review.

PMID:
23743117
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;5(10):1844-59. doi: 10.2215/CJN.02210310. Epub 2010 Jul 1.

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;32(4):232-40. doi: 10.1016/j.revmed.2009.09.039. Epub 2011 Mar 3. French.

8.

Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.

Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A, Arzouk N, Cleper R, Francois M, Guest G, Pourrat J, Seligman R, Fridman WH, Loirat C, Atkinson JP.

J Am Soc Nephrol. 2006 Jul;17(7):2017-25. Epub 2006 Jun 8.

9.

Atypical hemolytic uremic syndrome: update on the complement system and what is new.

Hirt-Minkowski P, Dickenmann M, Schifferli JA.

Nephron Clin Pract. 2010;114(4):c219-35. doi: 10.1159/000276545. Epub 2010 Jan 14. Review.

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;42(11):852-6. Epub 2005 Mar 22.

11.

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;13(3):663-75. doi: 10.1111/ajt.12077. Epub 2013 Jan 28.

12.

A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity.

Blom AM, Bergström F, Edey M, Diaz-Torres M, Kavanagh D, Lampe A, Goodship JA, Strain L, Moghal N, McHugh M, Inward C, Tomson C, Frémeaux-Bacchi V, Villoutreix BO, Goodship TH.

J Immunol. 2008 May 1;180(9):6385-91.

13.

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;43(11):1769-75. Epub 2006 Jan 18.

PMID:
16386793
14.

Successful renal transplantation in a patient with atypical hemolytic uremic syndrome carrying mutations in both factor I and MCP.

Cruzado JM, de Córdoba SR, Melilli E, Bestard O, Rama I, Sánchez-Corral P, López-Trascasa M, Navarro I, Torras J, Gomà M, Grinyó JM.

Am J Transplant. 2009 Jun;9(6):1477-83. doi: 10.1111/j.1600-6143.2009.02647.x. Epub 2009 May 20.

15.

The role of defective complement control in hemolytic uremic syndrome.

Zipfel PF, Misselwitz J, Licht C, Skerka C.

Semin Thromb Hemost. 2006 Mar;32(2):146-54. Review.

PMID:
16575689
16.

Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome.

Richards A, Kathryn Liszewski M, Kavanagh D, Fang CJ, Moulton E, Fremeaux-Bacchi V, Remuzzi G, Noris M, Goodship TH, Atkinson JP.

Mol Immunol. 2007 Jan;44(1-3):111-22. Epub 2006 Aug 1. Review.

PMID:
16882452
17.

Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.

Sullivan M, Erlic Z, Hoffmann MM, Arbeiter K, Patzer L, Budde K, Hoppe B, Zeier M, Lhotta K, Rybicki LA, Bock A, Berisha G, Neumann HP.

Ann Hum Genet. 2010 Jan;74(1):17-26. doi: 10.1111/j.1469-1809.2009.00554.x.

18.

Atypical hemolytic uremic syndrome associated with mutations in complement regulator genes.

Le Quintrec M, Roumenina L, Noris M, Frémeaux-Bacchi V.

Semin Thromb Hemost. 2010 Sep;36(6):641-52. doi: 10.1055/s-0030-1262886. Epub 2010 Sep 23. Review.

PMID:
20865641
19.

Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation.

Le Quintrec M, Lionet A, Kamar N, Karras A, Barbier S, Buchler M, Fakhouri F, Provost F, Fridman WH, Thervet E, Legendre C, Zuber J, Frémeaux-Bacchi V.

Am J Transplant. 2008 Aug;8(8):1694-701. doi: 10.1111/j.1600-6143.2008.02297.x. Epub 2008 Jun 28.

20.

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;24(3):475-86. doi: 10.1681/ASN.2012090884. Epub 2013 Feb 21.

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