Complement factor I: a susceptibility gene for aty...[J Med Genet. 2004]

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1: J Med Genet. 2004 Jun;41(6):e84. Links

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, Vigneau C, Kuypers D, Boudailliez B, Loirat C, Rondeau E, Fridman WH.

Service d'Immunologie Biologique, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France. veronique.fremeaux-bacchi@hop.egp.ap-hop-paris.fr

PMID: 15173250 [PubMed - indexed for MEDLINE]

PMCID: PMC1735822

A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.
Pediatr Nephrol. 2007 Mar; 22(3):371-5. Epub 2006 Nov 15.

[Pediatr Nephrol. 2007]
Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.
Mol Immunol. 2006 Apr; 43(11):1769-75. Epub 2006 Jan 18.

[Mol Immunol. 2006]
Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome.
J Am Soc Nephrol. 2005 Jul; 16(7):2150-5. Epub 2005 May 25.

[J Am Soc Nephrol. 2005]
ReviewAtypical haemolytic uraemic syndrome and mutations in complement regulator genes.
Springer Semin Immunopathol. 2005 Nov; 27(3):359-74. Epub 2005 Nov 11.

[Springer Semin Immunopathol. 2005]
ReviewScreening for complement system abnormalities in patients with atypical hemolytic uremic syndrome.
Clin J Am Soc Nephrol. 2007 May; 2(3):591-6. Epub 2007 Feb 14.

[Clin J Am Soc Nephrol. 2007]
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Cited by 10 PubMed Central articles

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, et al. J Am Soc Nephrol. 2008 Mar; 19(3):639-46. Epub 2008 Jan 30.

[J Am Soc Nephrol. 2008]
ReviewPathogenesis of thrombotic microangiopathies.
Zheng XL, Sadler JE. Annu Rev Pathol. 2008; 3:249-77.

[Annu Rev Pathol. 2008]
ReviewTranslational mini-review series on complement factor H: genetics and disease associations of human complement factor H.
de Córdoba SR, de Jorge EG. Clin Exp Immunol. 2008 Jan; 151(1):1-13.

[Clin Exp Immunol. 2008]
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Cited by 10 PubMed Central articles

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