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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Lemaire M, Frémeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nürnberg G, Altmüller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nürnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP. Lemaire M, et al. Among authors: deschenes g. Nat Genet. 2013 May;45(5):531-6. doi: 10.1038/ng.2590. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542698 Free PMC article.
Human complement factor H deficiency associated with hemolytic uremic syndrome.
Rougier N, Kazatchkine MD, Rougier JP, Fremeaux-Bacchi V, Blouin J, Deschenes G, Soto B, Baudouin V, Pautard B, Proesmans W, Weiss E, Weiss L. Rougier N, et al. Among authors: deschenes g. J Am Soc Nephrol. 1998 Dec;9(12):2318-26. doi: 10.1681/ASN.V9122318. J Am Soc Nephrol. 1998. PMID: 9848786
Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.
Dragon-Durey MA, Frémeaux-Bacchi V, Loirat C, Blouin J, Niaudet P, Deschenes G, Coppo P, Herman Fridman W, Weiss L. Dragon-Durey MA, et al. Among authors: deschenes g. J Am Soc Nephrol. 2004 Mar;15(3):787-95. doi: 10.1097/01.asn.0000115702.28859.a7. J Am Soc Nephrol. 2004. PMID: 14978182
[Renovascular hypertension in childhood].
Bensman A, Deschenes G, Loirat C. Bensman A, et al. Among authors: deschenes g. Bull Acad Natl Med. 2003;187(6):1067-77; discussion 1078-9. Bull Acad Natl Med. 2003. PMID: 14978868 Review. French.
Secondary failure of plasma therapy in factor H deficiency.
Nathanson S, Ulinski T, Frémeaux-Bacchi V, Deschênes G. Nathanson S, et al. Among authors: deschenes g. Pediatr Nephrol. 2006 Nov;21(11):1769-71. doi: 10.1007/s00467-006-0237-9. Epub 2006 Aug 15. Pediatr Nephrol. 2006. PMID: 16909242
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. Sellier-Leclerc AL, et al. Among authors: deschenes g. J Am Soc Nephrol. 2007 Aug;18(8):2392-400. doi: 10.1681/ASN.2006080811. Epub 2007 Jun 28. J Am Soc Nephrol. 2007. PMID: 17599974
282 results