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Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel.
Santos RD, Gidding SS, Hegele RA, Cuchel MA, Barter PJ, Watts GF, Baum SJ, Catapano AL, Chapman MJ, Defesche JC, Folco E, Freiberger T, Genest J, Hovingh GK, Harada-Shiba M, Humphries SE, Jackson AS, Mata P, Moriarty PM, Raal FJ, Al-Rasadi K, Ray KK, Reiner Z, Sijbrands EJ, Yamashita S; International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Santos RD, et al. Among authors: genest j. Lancet Diabetes Endocrinol. 2016 Oct;4(10):850-61. doi: 10.1016/S2213-8587(16)30041-9. Epub 2016 May 27. Lancet Diabetes Endocrinol. 2016. PMID: 27246162 Free article. Review.
Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].
Yu L, Heere-Ress E, Boucher B, Defesche JC, Kastelein J, Lavoie MA, Genest J Jr. Yu L, et al. Among authors: genest j jr. Atherosclerosis. 1999 Sep;146(1):125-31. doi: 10.1016/s0021-9150(99)00109-4. Atherosclerosis. 1999. PMID: 10487495
Vascular calcifications in homozygote familial hypercholesterolemia.
Awan Z, Alrasadi K, Francis GA, Hegele RA, McPherson R, Frohlich J, Valenti D, de Varennes B, Marcil M, Gagne C, Genest J, Couture P. Awan Z, et al. Among authors: genest j. Arterioscler Thromb Vasc Biol. 2008 Apr;28(4):777-85. doi: 10.1161/ATVBAHA.107.160408. Epub 2008 Jan 31. Arterioscler Thromb Vasc Biol. 2008. PMID: 18239150
Effect of ABCA1 mutations on risk for myocardial infarction.
Iatan I, Alrasadi K, Ruel I, Alwaili K, Genest J. Iatan I, et al. Among authors: genest j. Curr Atheroscler Rep. 2008 Oct;10(5):413-26. doi: 10.1007/s11883-008-0064-5. Curr Atheroscler Rep. 2008. PMID: 18706283 Review.
978 results