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Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
Stitziel NO, Fouchier SW, Sjouke B, Peloso GM, Moscoso AM, Auer PL, Goel A, Gigante B, Barnes TA, Melander O, Orho-Melander M, Duga S, Sivapalaratnam S, Nikpay M, Martinelli N, Girelli D, Jackson RD, Kooperberg C, Lange LA, Ardissino D, McPherson R, Farrall M, Watkins H, Reilly MP, Rader DJ, de Faire U, Schunkert H, Erdmann J, Samani NJ, Charnas L, Altshuler D, Gabriel S, Kastelein JJ, Defesche JC, Nederveen AJ, Kathiresan S, Hovingh GK; National Heart, Lung, and Blood Institute GO Exome Sequencing Project. Stitziel NO, et al. Among authors: girelli d. Arterioscler Thromb Vasc Biol. 2013 Dec;33(12):2909-14. doi: 10.1161/ATVBAHA.113.302426. Epub 2013 Sep 26. Arterioscler Thromb Vasc Biol. 2013. PMID: 24072694 Free PMC article.
Modulation of factor V levels in plasma by polymorphisms in the C2 domain.
Scanavini D, Girelli D, Lunghi B, Martinelli N, Legnani C, Pinotti M, Palareti G, Bernardi F. Scanavini D, et al. Among authors: girelli d. Arterioscler Thromb Vasc Biol. 2004 Jan;24(1):200-6. doi: 10.1161/01.ATV.0000109750.34073.f6. Epub 2003 Dec 1. Arterioscler Thromb Vasc Biol. 2004. PMID: 14656739
Influence of polymorphisms in the factor VII gene promoter on activated factor VII levels and on the risk of myocardial infarction in advanced coronary atherosclerosis.
Bozzini C, Girelli D, Bernardi F, Ferraresi P, Olivieri O, Pinotti M, Martinelli N, Manzato F, Friso S, Villa G, Pizzolo F, Beltrame F, Corrocher R. Bozzini C, et al. Among authors: girelli d. Thromb Haemost. 2004 Sep;92(3):541-9. doi: 10.1160/TH04-02-0130. Thromb Haemost. 2004. PMID: 15351850
The -1131 T>C and S19W APOA5 gene polymorphisms are associated with high levels of triglycerides and apolipoprotein C-III, but not with coronary artery disease: an angiographic study.
Martinelli N, Trabetti E, Bassi A, Girelli D, Friso S, Pizzolo F, Sandri M, Malerba G, Pignatti PF, Corrocher R, Olivieri O. Martinelli N, et al. Among authors: girelli d. Atherosclerosis. 2007 Apr;191(2):409-17. doi: 10.1016/j.atherosclerosis.2006.04.009. Epub 2006 May 8. Atherosclerosis. 2007. PMID: 16682041
356 results