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Exome sequencing in suspected monogenic dyslipidemias.
Stitziel NO, Peloso GM, Abifadel M, Cefalu AB, Fouchier S, Motazacker MM, Tada H, Larach DB, Awan Z, Haller JF, Pullinger CR, Varret M, Rabès JP, Noto D, Tarugi P, Kawashiri MA, Nohara A, Yamagishi M, Risman M, Deo R, Ruel I, Shendure J, Nickerson DA, Wilson JG, Rich SS, Gupta N, Farlow DN, Neale BM, Daly MJ, Kane JP, Freeman MW, Genest J, Rader DJ, Mabuchi H, Kastelein JJ, Hovingh GK, Averna MR, Gabriel S, Boileau C, Kathiresan S. Stitziel NO, et al. Among authors: averna mr. Circ Cardiovasc Genet. 2015 Apr;8(2):343-50. doi: 10.1161/CIRCGENETICS.114.000776. Epub 2015 Jan 27. Circ Cardiovasc Genet. 2015. PMID: 25632026 Free PMC article.
Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
Tarugi P, Averna M, Di Leo E, Cefalù AB, Noto D, Magnolo L, Cattin L, Bertolini S, Calandra S. Tarugi P, et al. Atherosclerosis. 2007 Dec;195(2):e19-27. doi: 10.1016/j.atherosclerosis.2007.05.003. Epub 2007 Jun 14. Atherosclerosis. 2007. PMID: 17570373 Review.
A novel component of the metabolic syndrome: the oxidative stress.
Hopps E, Noto D, Caimi G, Averna MR. Hopps E, et al. Among authors: averna mr. Nutr Metab Cardiovasc Dis. 2010 Jan;20(1):72-7. doi: 10.1016/j.numecd.2009.06.002. Epub 2009 Sep 10. Nutr Metab Cardiovasc Dis. 2010. PMID: 19747805 Review.
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.
Cefalù AB, Noto D, Arpi ML, Yin F, Spina R, Hilden H, Barbagallo CM, Carroccio A, Tarugi P, Squatrito S, Vigneri R, Taskinen MR, Péterfy M, Averna MR. Cefalù AB, et al. Among authors: averna mr. J Clin Endocrinol Metab. 2009 Nov;94(11):4584-90. doi: 10.1210/jc.2009-0594. Epub 2009 Oct 9. J Clin Endocrinol Metab. 2009. PMID: 19820022 Free PMC article.
255 results