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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: farrall m. 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.
Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion.
Keavney B, Mayosi B, Gaukrodger N, Imrie H, Baker M, Fraser R, Ingram M, Watkins H, Farrall M, Davies E, Connell J. Keavney B, et al. Among authors: farrall m. J Clin Endocrinol Metab. 2005 Feb;90(2):1072-7. doi: 10.1210/jc.2004-0870. Epub 2004 Nov 2. J Clin Endocrinol Metab. 2005. PMID: 15522937
Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17.
Farrall M, Green FR, Peden JF, Olsson PG, Clarke R, Hellenius ML, Rust S, Lagercrantz J, Franzosi MG, Schulte H, Carey A, Olsson G, Assmann G, Tognoni G, Collins R, Hamsten A, Watkins H. Farrall M, et al. PLoS Genet. 2006 May;2(5):e72. doi: 10.1371/journal.pgen.0020072. Epub 2006 May 19. PLoS Genet. 2006. PMID: 16710446 Free PMC article.
Polymorphic variation in the 11beta-hydroxylase gene associates with reduced 11-hydroxylase efficiency.
Barr M, MacKenzie SM, Friel EC, Holloway CD, Wilkinson DM, Brain NJ, Ingram MC, Fraser R, Brown M, Samani NJ, Caulfield M, Munroe PB, Farrall M, Webster J, Clayton D, Dominiczak AF, Connell JM, Davies E. Barr M, et al. Among authors: farrall m. Hypertension. 2007 Jan;49(1):113-9. doi: 10.1161/01.HYP.0000249904.93940.7a. Epub 2006 Oct 30. Hypertension. 2007. PMID: 17075029
Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p.
Broadbent HM, Peden JF, Lorkowski S, Goel A, Ongen H, Green F, Clarke R, Collins R, Franzosi MG, Tognoni G, Seedorf U, Rust S, Eriksson P, Hamsten A, Farrall M, Watkins H; PROCARDIS consortium. Broadbent HM, et al. Among authors: farrall m. Hum Mol Genet. 2008 Mar 15;17(6):806-14. doi: 10.1093/hmg/ddm352. Epub 2007 Nov 29. Hum Mol Genet. 2008. PMID: 18048406
324 results