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Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach.
Versmissen J, Oosterveer DM, Yazdanpanah M, Dehghan A, Hólm H, Erdman J, Aulchenko YS, Thorleifsson G, Schunkert H, Huijgen R, Vongpromek R, Uitterlinden AG, Defesche JC, van Duijn CM, Mulder M, Dadd T, Karlsson HD, Ordovas J, Kindt I, Jarman A, Hofman A, van Vark-van der Zee L, Blommesteijn-Touw AC, Kwekkeboom J, Liem AH, van der Ouderaa FJ, Calandra S, Bertolini S, Averna M, Langslet G, Ose L, Ros E, Almagro F, de Leeuw PW, Civeira F, Masana L, Pintó X, Simoons ML, Schinkel AF, Green MR, Zwinderman AH, Johnson KJ, Schaefer A, Neil A, Witteman JC, Humphries SE, Kastelein JJ, Sijbrands EJ. Versmissen J, et al. Among authors: averna m. Eur J Hum Genet. 2015 Mar;23(3):381-7. doi: 10.1038/ejhg.2014.101. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916650 Free PMC article.
Two Italian kindreds carrying the Arg136-->Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele.
Rolleri M, Vivona N, Emmanuele G, Cefalù AB, Pisciotta L, Guido V, Noto D, Fiore B, Barbagallo CM, Notarbartolo A, Travali S, Bertolini S, Averna MR. Rolleri M, et al. Among authors: averna mr. Nutr Metab Cardiovasc Dis. 2003 Apr;13(2):93-9. doi: 10.1016/s0939-4753(03)80024-8. Nutr Metab Cardiovasc Dis. 2003. PMID: 12929622
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.
Di Leo E, Lancellotti S, Penacchioni JY, Cefalù AB, Averna M, Pisciotta L, Bertolini S, Calandra S, Gabelli C, Tarugi P. Di Leo E, et al. Among authors: averna m. Atherosclerosis. 2005 Jun;180(2):311-8. doi: 10.1016/j.atherosclerosis.2004.12.004. Epub 2005 Jan 19. Atherosclerosis. 2005. PMID: 15910857
Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
Tarugi P, Averna M, Di Leo E, Cefalù AB, Noto D, Magnolo L, Cattin L, Bertolini S, Calandra S. Tarugi P, et al. Among authors: averna m. Atherosclerosis. 2007 Dec;195(2):e19-27. doi: 10.1016/j.atherosclerosis.2007.05.003. Epub 2007 Jun 14. Atherosclerosis. 2007. PMID: 17570373 Review.
391 results