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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: rader dj. 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.
The metabolic syndrome: more than the sum of its parts?
Reilly MP, Rader DJ. Reilly MP, et al. Among authors: rader dj. Circulation. 2003 Sep 30;108(13):1546-51. doi: 10.1161/01.CIR.0000088846.10655.E0. Circulation. 2003. PMID: 14517150 Review. No abstract available.
An inflammatory cascade leading to hyperresistinemia in humans.
Lehrke M, Reilly MP, Millington SC, Iqbal N, Rader DJ, Lazar MA. Lehrke M, et al. Among authors: rader dj. PLoS Med. 2004 Nov;1(2):e45. doi: 10.1371/journal.pmed.0010045. Epub 2004 Nov 30. PLoS Med. 2004. PMID: 15578112 Free PMC article. Review.
Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production.
Millar JS, Maugeais C, Ikewaki K, Kolansky DM, Barrett PH, Budreck EC, Boston RC, Tada N, Mochizuki S, Defesche JC, Wilson JM, Rader DJ. Millar JS, et al. Among authors: rader dj. Arterioscler Thromb Vasc Biol. 2005 Mar;25(3):560-5. doi: 10.1161/01.ATV.0000155323.18856.a2. Epub 2005 Jan 6. Arterioscler Thromb Vasc Biol. 2005. PMID: 15637307
944 results