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Page 1
Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.
Noto D, Cefalù AB, Valenti V, Fayer F, Pinotti E, Ditta M, Spina R, Vigna G, Yue P, Kathiresan S, Tarugi P, Averna MR. Noto D, et al. Among authors: kathiresan s. Arterioscler Thromb Vasc Biol. 2012 Mar;32(3):805-9. doi: 10.1161/ATVBAHA.111.238766. Epub 2012 Jan 12. Arterioscler Thromb Vasc Biol. 2012. PMID: 22247256
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, Gonzalez E, Rudzicz N, Engert JC, DePristo MA, Daly MJ, Cohen JC, Hobbs HH, Altshuler D, Schonfeld G, Gabriel SB, Yue P, Kathiresan S. Musunuru K, et al. Among authors: kathiresan s. N Engl J Med. 2010 Dec 2;363(23):2220-7. doi: 10.1056/NEJMoa1002926. Epub 2010 Oct 13. N Engl J Med. 2010. PMID: 20942659 Free PMC article.
Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis.
Minicocci I, Santini S, Cantisani V, Stitziel N, Kathiresan S, Arroyo JA, Martí G, Pisciotta L, Noto D, Cefalù AB, Maranghi M, Labbadia G, Pigna G, Pannozzo F, Ceci F, Ciociola E, Bertolini S, Calandra S, Tarugi P, Averna M, Arca M. Minicocci I, et al. Among authors: kathiresan s. J Lipid Res. 2013 Dec;54(12):3481-90. doi: 10.1194/jlr.P039875. Epub 2013 Sep 20. J Lipid Res. 2013. PMID: 24058201 Free PMC article.
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: kathiresan s. 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.
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: kathiresan s. 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.
An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia.
Johansen CT, Wang J, Lanktree MB, McIntyre AD, Ban MR, Martins RA, Kennedy BA, Hassell RG, Visser ME, Schwartz SM, Voight BF, Elosua R, Salomaa V, O'Donnell CJ, Dallinga-Thie GM, Anand SS, Yusuf S, Huff MW, Kathiresan S, Cao H, Hegele RA. Johansen CT, et al. Among authors: kathiresan s. Arterioscler Thromb Vasc Biol. 2011 Aug;31(8):1916-26. doi: 10.1161/ATVBAHA.111.226365. Epub 2011 May 19. Arterioscler Thromb Vasc Biol. 2011. PMID: 21597005 Free PMC article.
Small dense low-density lipoprotein-cholesterol concentrations predict risk for coronary heart disease: the Atherosclerosis Risk In Communities (ARIC) study.
Hoogeveen RC, Gaubatz JW, Sun W, Dodge RC, Crosby JR, Jiang J, Couper D, Virani SS, Kathiresan S, Boerwinkle E, Ballantyne CM. Hoogeveen RC, et al. Among authors: kathiresan s. Arterioscler Thromb Vasc Biol. 2014 May;34(5):1069-77. doi: 10.1161/ATVBAHA.114.303284. Epub 2014 Feb 20. Arterioscler Thromb Vasc Biol. 2014. PMID: 24558110 Free PMC article.
ANGPTL3 Deficiency and Protection Against Coronary Artery Disease.
Stitziel NO, Khera AV, Wang X, Bierhals AJ, Vourakis AC, Sperry AE, Natarajan P, Klarin D, Emdin CA, Zekavat SM, Nomura A, Erdmann J, Schunkert H, Samani NJ, Kraus WE, Shah SH, Yu B, Boerwinkle E, Rader DJ, Gupta N, Frossard PM, Rasheed A, Danesh J, Lander ES, Gabriel S, Saleheen D, Musunuru K, Kathiresan S; PROMIS and Myocardial Infarction Genetics Consortium Investigators. Stitziel NO, et al. Among authors: kathiresan s. J Am Coll Cardiol. 2017 Apr 25;69(16):2054-2063. doi: 10.1016/j.jacc.2017.02.030. Epub 2017 Apr 3. J Am Coll Cardiol. 2017. PMID: 28385496 Free PMC article.
Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease.
Peloso GM, Nomura A, Khera AV, Chaffin M, Won HH, Ardissino D, Danesh J, Schunkert H, Wilson JG, Samani N, Erdmann J, McPherson R, Watkins H, Saleheen D, McCarthy S, Teslovich TM, Leader JB, Lester Kirchner H, Marrugat J, Nohara A, Kawashiri MA, Tada H, Dewey FE, Carey DJ, Baras A, Kathiresan S. Peloso GM, et al. Among authors: kathiresan s. Circ Genom Precis Med. 2019 May;12(5):e002376. doi: 10.1161/CIRCGEN.118.002376. Circ Genom Precis Med. 2019. PMID: 30939045 Free PMC article.
479 results