PubMed (OMIM) for id: 3426

Year	Number of Results
1970	2
1971	1
1972	1
1977	1
1985	1
1987	2
1989	2
1991	1
1994	2
1996	1
1999	1
2003	1
2004	1
2006	4
2007	1
2008	1
2009	1
2010	2
2013	2
2015	2
2024	0

1

Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.

Pras E, Kristal D, Shoshany N, Volodarsky D, Vulih I, Celniker G, Isakov O, Shomron N, Pras E. Pras E, et al. J Med Genet. 2015 Jul;52(7):484-92. doi: 10.1136/jmedgenet-2015-103130. Epub 2015 May 18. J Med Genet. 2015. PMID: 25986072

2

Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.

Kavanagh D, Yu Y, Schramm EC, Triebwasser M, Wagner EK, Raychaudhuri S, Daly MJ, Atkinson JP, Seddon JM. Kavanagh D, et al. Hum Mol Genet. 2015 Jul 1;24(13):3861-70. doi: 10.1093/hmg/ddv091. Epub 2015 Mar 18. Hum Mol Genet. 2015. PMID: 25788521 Free PMC article.

3

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, Goldstein JI, Triebwasser M, Anderson HE, Zerbib J, Kavanagh D, Souied E, Katsanis N, Daly MJ, Atkinson JP, Raychaudhuri S. Seddon JM, et al. Nat Genet. 2013 Nov;45(11):1366-70. doi: 10.1038/ng.2741. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036952 Free PMC article.

4

A functional variant in the CFI gene confers a high risk of age-related macular degeneration.

van de Ven JP, Nilsson SC, Tan PL, Buitendijk GH, Ristau T, Mohlin FC, Nabuurs SB, Schoenmaker-Koller FE, Smailhodzic D, Campochiaro PA, Zack DJ, Duvvari MR, Bakker B, Paun CC, Boon CJ, Uitterlinden AG, Liakopoulos S, Klevering BJ, Fauser S, Daha MR, Katsanis N, Klaver CC, Blom AM, Hoyng CB, den Hollander AI. van de Ven JP, et al. Nat Genet. 2013 Jul;45(7):813-7. doi: 10.1038/ng.2640. Epub 2013 May 19. Nat Genet. 2013. PMID: 23685748

5

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

Maga TK, Nishimura CJ, Weaver AE, Frees KL, Smith RJ. Maga TK, et al. Hum Mutat. 2010 Jun;31(6):E1445-60. doi: 10.1002/humu.21256. Hum Mutat. 2010. PMID: 20513133

6

Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations.

Fakhouri F, Roumenina L, Provot F, Sallée M, Caillard S, Couzi L, Essig M, Ribes D, Dragon-Durey MA, Bridoux F, Rondeau E, Frémeaux-Bacchi V. Fakhouri F, et al. J Am Soc Nephrol. 2010 May;21(5):859-67. doi: 10.1681/ASN.2009070706. Epub 2010 Mar 4. J Am Soc Nephrol. 2010. PMID: 20203157 Free PMC article.

7

Variation near complement factor I is associated with risk of advanced AMD.

Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. Fagerness JA, et al. Eur J Hum Genet. 2009 Jan;17(1):100-4. doi: 10.1038/ejhg.2008.140. Epub 2008 Aug 6. Eur J Hum Genet. 2009. PMID: 18685559 Free PMC article.

8

Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.

Servais A, Frémeaux-Bacchi V, Lequintrec M, Salomon R, Blouin J, Knebelmann B, Grünfeld JP, Lesavre P, Noël LH, Fakhouri F. Servais A, et al. J Med Genet. 2007 Mar;44(3):193-9. doi: 10.1136/jmg.2006.045328. Epub 2006 Oct 3. J Med Genet. 2007. PMID: 17018561 Free PMC article.

9

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. Caprioli J, et al. Blood. 2006 Aug 15;108(4):1267-79. doi: 10.1182/blood-2005-10-007252. Epub 2006 Apr 18. Blood. 2006. PMID: 16621965 Free PMC article. Clinical Trial.

10

Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family.

Grumach AS, Leitão MF, Arruk VG, Kirschfink M, Condino-Neto A. Grumach AS, et al. Clin Exp Immunol. 2006 Feb;143(2):297-304. doi: 10.1111/j.1365-2249.2005.02988.x. Clin Exp Immunol. 2006. PMID: 16412054 Free PMC article.

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