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Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.
Basel-Vanagaite L, Zevit N, Har Zahav A, Guo L, Parathath S, Pasmanik-Chor M, McIntyre AD, Wang J, Albin-Kaplanski A, Hartman C, Marom D, Zeharia A, Badir A, Shoerman O, Simon AJ, Rechavi G, Shohat M, Hegele RA, Fisher EA, Shamir R. Basel-Vanagaite L, et al. Among authors: mcintyre ad. Am J Hum Genet. 2012 Jan 13;90(1):49-60. doi: 10.1016/j.ajhg.2011.11.028. Epub 2012 Jan 5. Am J Hum Genet. 2012. PMID: 22226083 Free PMC article.
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
Johansen CT, Wang J, Lanktree MB, Cao H, 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, Hegele RA. Johansen CT, et al. Among authors: mcintyre ad. Nat Genet. 2010 Aug;42(8):684-7. doi: 10.1038/ng.628. Epub 2010 Jul 25. Nat Genet. 2010. PMID: 20657596 Free PMC article.
Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia.
Johansen CT, Wang J, McIntyre AD, Martins RA, Ban MR, Lanktree MB, Huff MW, Péterfy M, Mehrabian M, Lusis AJ, Kathiresan S, Anand SS, Yusuf S, Lee AH, Glimcher LH, Cao H, Hegele RA. Johansen CT, et al. Among authors: mcintyre ad. Circ Cardiovasc Genet. 2012 Feb 1;5(1):66-72. doi: 10.1161/CIRCGENETICS.111.960864. Epub 2011 Dec 1. Circ Cardiovasc Genet. 2012. PMID: 22135386 Free PMC article.
Western Database of Lipid Variants (WDLV): a catalogue of genetic variants in monogenic dyslipidemias.
Fu J, Kwok S, Sinai L, Abdel-Razek O, Babula J, Chen D, Farago E, Fernandopulle N, Leith S, Loyzer M, Lu C, Malkani N, Morris N, Schmidt M, Stringer R, Whitehead H, Ban MR, Dubé JB, McIntyre A, Johansen CT, Cao H, Wang J, Hegele RA. Fu J, et al. Can J Cardiol. 2013 Aug;29(8):934-9. doi: 10.1016/j.cjca.2013.01.008. Epub 2013 Apr 24. Can J Cardiol. 2013. PMID: 23623477
Targeted next-generation sequencing in monogenic dyslipidemias.
Hegele RA, Ban MR, Cao H, McIntyre AD, Robinson JF, Wang J. Hegele RA, et al. Among authors: mcintyre ad. Curr Opin Lipidol. 2015 Apr;26(2):103-13. doi: 10.1097/MOL.0000000000000163. Curr Opin Lipidol. 2015. PMID: 25692347 Review.
72 results