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Items: 1 to 20 of 239

1.

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.

2.

[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.

3.

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.

4.

Genetic Atypical Hemolytic-Uremic Syndrome.

Noris M, Bresin E, Mele C, Remuzzi G.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Nov 16 [updated 2016 Jun 9].

5.

Atypical hemolytic uremic syndrome.

Loirat C, Frémeaux-Bacchi V.

Orphanet J Rare Dis. 2011 Sep 8;6:60. doi: 10.1186/1750-1172-6-60. Review.

6.

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.

7.

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
8.

Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome.

Sellier-Leclerc AL, Fremeaux-Bacchi V, Dragon-Durey MA, Macher MA, Niaudet P, Guest G, Boudailliez B, Bouissou F, Deschenes G, Gie S, Tsimaratos M, Fischbach M, Morin D, Nivet H, Alberti C, Loirat C; French Society of Pediatric Nephrology.

J Am Soc Nephrol. 2007 Aug;18(8):2392-400. Epub 2007 Jun 28.

9.

Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP.

Provaznikova D, Rittich S, Malina M, Seeman T, Marinov I, Riedl M, Hrachovinova I.

Pediatr Nephrol. 2012 Jan;27(1):73-81. doi: 10.1007/s00467-011-1943-5. Epub 2011 Jun 27.

PMID:
21706448
10.

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
11.

Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome.

Fan X, Yoshida Y, Honda S, Matsumoto M, Sawada Y, Hattori M, Hisanaga S, Hiwa R, Nakamura F, Tomomori M, Miyagawa S, Fujimaru R, Yamada H, Sawai T, Ikeda Y, Iwata N, Uemura O, Matsukuma E, Aizawa Y, Harada H, Wada H, Ishikawa E, Ashida A, Nangaku M, Miyata T, Fujimura Y.

Mol Immunol. 2013 Jun;54(2):238-46. doi: 10.1016/j.molimm.2012.12.006. Epub 2013 Jan 8.

PMID:
23314101
12.

Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations.

Alberti M, Valoti E, Piras R, Bresin E, Galbusera M, Tripodo C, Thaiss F, Remuzzi G, Noris M.

Am J Transplant. 2013 Aug;13(8):2201-6. doi: 10.1111/ajt.12297. Epub 2013 Jun 3.

13.

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, Mele C, Bresin E, Cassis L, Gamba S, Porrati F, Bucchioni S, Monteferrante G, Fang CJ, Liszewski MK, Kavanagh D, Atkinson JP, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP.

Blood. 2006 Aug 15;108(4):1267-79. Epub 2006 Apr 18.

14.

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.

15.

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
16.

Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.

Fremeaux-Bacchi V, Fakhouri F, Garnier A, Bienaimé F, Dragon-Durey MA, Ngo S, Moulin B, Servais A, Provot F, Rostaing L, Burtey S, Niaudet P, Deschênes G, Lebranchu Y, Zuber J, Loirat C.

Clin J Am Soc Nephrol. 2013 Apr;8(4):554-62. doi: 10.2215/CJN.04760512. Epub 2013 Jan 10.

17.

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
18.

Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics.

Geerdink LM, Westra D, van Wijk JA, Dorresteijn EM, Lilien MR, Davin JC, Kömhoff M, Van Hoeck K, van der Vlugt A, van den Heuvel LP, van de Kar NC.

Pediatr Nephrol. 2012 Aug;27(8):1283-91. doi: 10.1007/s00467-012-2131-y. Epub 2012 Mar 13.

19.

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;8(3):407-15. doi: 10.2215/CJN.01260212. Epub 2012 Dec 14.

20.

Genetics of atypical hemolytic uremic syndrome (aHUS).

Rodríguez de Córdoba S, Hidalgo MS, Pinto S, Tortajada A.

Semin Thromb Hemost. 2014 Jun;40(4):422-30. doi: 10.1055/s-0034-1375296. Epub 2014 May 5. Review.

PMID:
24799305

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