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Results: 1 to 20 of 309

1.

The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome.

Dragon-Durey MA, Blanc C, Marliot F, Loirat C, Blouin J, Sautes-Fridman C, Fridman WH, Frémeaux-Bacchi V.

J Med Genet. 2009 Jul;46(7):447-50. doi: 10.1136/jmg.2008.064766. Epub 2009 May 11.

PMID:
19435718
[PubMed - indexed for MEDLINE]
2.

Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome.

Abarrategui-Garrido C, Martínez-Barricarte R, López-Trascasa M, de Córdoba SR, Sánchez-Corral P.

Blood. 2009 Nov 5;114(19):4261-71. doi: 10.1182/blood-2009-05-223834. Epub 2009 Sep 10.

PMID:
19745068
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

PMID:
23243267
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.

Zipfel PF, Edey M, Heinen S, Józsi M, Richter H, Misselwitz J, Hoppe B, Routledge D, Strain L, Hughes AE, Goodship JA, Licht C, Goodship TH, Skerka C.

PLoS Genet. 2007 Mar 16;3(3):e41. Epub 2007 Feb 1.

PMID:
17367211
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.

Moore I, Strain L, Pappworth I, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Staniforth SJ, Holmes LV, Ward R, Morgan L, Goodship TH, Marchbank KJ.

Blood. 2010 Jan 14;115(2):379-87. doi: 10.1182/blood-2009-05-221549. Epub 2009 Oct 27.

PMID:
19861685
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency.

Lee BH, Kwak SH, Shin JI, Lee SH, Choi HJ, Kang HG, Ha IS, Lee JS, Dragon-Durey MA, Choi Y, Cheong HI.

Pediatr Res. 2009 Sep;66(3):336-40. doi: 10.1203/PDR.0b013e3181b1bd4a.

PMID:
19531976
[PubMed - indexed for MEDLINE]
7.

Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency.

Józsi M, Licht C, Strobel S, Zipfel SL, Richter H, Heinen S, Zipfel PF, Skerka C.

Blood. 2008 Feb 1;111(3):1512-4. Epub 2007 Nov 15.

PMID:
18006700
[PubMed - indexed for MEDLINE]
Free Article
8.

Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations.

Leban N, Abarrategui-Garrido C, Fariza-Requejo E, Amiñoso-Carbonero C, Pinto S, Chibani JB, Khelil AH, Sánchez-Corral P.

Int J Immunogenet. 2012 Apr;39(2):110-3. doi: 10.1111/j.1744-313X.2011.01071.x. Epub 2011 Dec 5.

PMID:
22136554
[PubMed - indexed for MEDLINE]
9.

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

Venables JP, Strain L, Routledge D, Bourn D, Powell HM, Warwicker P, Diaz-Torres ML, Sampson A, Mead P, Webb M, Pirson Y, Jackson MS, Hughes A, Wood KM, Goodship JA, Goodship TH.

PLoS Med. 2006 Oct;3(10):e431.

PMID:
17076561
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Autoantibodies in haemolytic uraemic syndrome (HUS).

Skerka C, Józsi M, Zipfel PF, Dragon-Durey MA, Fremeaux-Bacchi V.

Thromb Haemost. 2009 Feb;101(2):227-32. Review.

PMID:
19190803
[PubMed - indexed for MEDLINE]
11.

A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome.

Francis NJ, McNicholas B, Awan A, Waldron M, Reddan D, Sadlier D, Kavanagh D, Strain L, Marchbank KJ, Harris CL, Goodship TH.

Blood. 2012 Jan 12;119(2):591-601. doi: 10.1182/blood-2011-03-339903. Epub 2011 Nov 4.

PMID:
22058112
[PubMed - indexed for MEDLINE]
Free Article
12.

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
[PubMed - indexed for MEDLINE]
Free Article
13.

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;40(9):676-81.

PMID:
12960213
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome.

Józsi M, Strobel S, Dahse HM, Liu WS, Hoyer PF, Oppermann M, Skerka C, Zipfel PF.

Blood. 2007 Sep 1;110(5):1516-8. Epub 2007 May 10.

PMID:
17495132
[PubMed - indexed for MEDLINE]
Free Article
15.

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.

PMID:
20595690
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Anti-Factor H autoantibodies in a fifth renal transplant recipient with atypical hemolytic and uremic syndrome.

Le Quintrec M, Zuber J, Noel LH, Thervet E, Frémeaux-Bacchi V, Niaudet P, Fridman WH, Legendre C, Dragon-Durey MA.

Am J Transplant. 2009 May;9(5):1223-9. doi: 10.1111/j.1600-6143.2009.02586.x. Erratum in: Am J Transplant. 2009 Sep;9(9):2205. Niauif, P [added]. Am J Transplant.2009 Nov;9(11):2647. Niauif, P [corrected to Niaudet, P].

PMID:
19422347
[PubMed - indexed for MEDLINE]
Free Article
17.

Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration.

Schmid-Kubista KE, Tosakulwong N, Wu Y, Ryu E, Hecker LA, Baratz KH, Brown WL, Edwards AO.

Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5070-9. doi: 10.1167/iovs.09-3975. Epub 2009 Jun 24.

PMID:
19553609
[PubMed - indexed for MEDLINE]
Free Article
18.

Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome.

Bienaime F, Dragon-Durey MA, Regnier CH, Nilsson SC, Kwan WH, Blouin J, Jablonski M, Renault N, Rameix-Welti MA, Loirat C, Sautés-Fridman C, Villoutreix BO, Blom AM, Fremeaux-Bacchi V.

Kidney Int. 2010 Feb;77(4):339-49. doi: 10.1038/ki.2009.472. Epub 2009 Dec 16.

PMID:
20016463
[PubMed - indexed for MEDLINE]
19.

[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.

PMID:
21376430
[PubMed - indexed for MEDLINE]
Free Article
20.

Does complement factor B have a role in the pathogenesis of atypical HUS?

Kavanagh D, Kemp EJ, Richards A, Burgess RM, Mayland E, Goodship JA, Goodship TH.

Mol Immunol. 2006 Mar;43(7):856-9. Epub 2005 Aug 2.

PMID:
16061287
[PubMed - indexed for MEDLINE]

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