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Page 1
Marfan Syndrome and Quality of Life in the GenTAC Registry.
Goldfinger JZ, Preiss LR, Devereux RB, Roman MJ, Hendershot TP, Kroner BL, Eagle KA; GenTAC Registry Consortium. Goldfinger JZ, et al. J Am Coll Cardiol. 2017 Jun 13;69(23):2821-2830. doi: 10.1016/j.jacc.2017.04.026. J Am Coll Cardiol. 2017. PMID: 28595698 Free PMC article.
GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection.
Holmes KW, Maslen CL, Kindem M, Kroner BL, Song HK, Ravekes W, Dietz HC, Weinsaft JW, Roman MJ, Devereux RB, Pyeritz RE, Bavaria J, Milewski K, Milewicz D, LeMaire SA, Hendershot T, Eagle KA, Tolunay HE, Desvigne-Nickens P, Silberbach M; GenTAC Registry Consortium. Holmes KW, et al. Am J Med Genet A. 2013 Apr;161A(4):779-86. doi: 10.1002/ajmg.a.35836. Epub 2013 Feb 26. Am J Med Genet A. 2013. PMID: 23444191 Free PMC article.
A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome.
Doyle JJ, Doyle AJ, Wilson NK, Habashi JP, Bedja D, Whitworth RE, Lindsay ME, Schoenhoff F, Myers L, Huso N, Bachir S, Squires O, Rusholme B, Ehsan H, Huso D, Thomas CJ, Caulfield MJ, Van Eyk JE, Judge DP, Dietz HC; GenTAC Registry Consortium; MIBAVA Leducq Consortium. Doyle JJ, et al. Elife. 2015 Oct 27;4:e08648. doi: 10.7554/eLife.08648. Elife. 2015. PMID: 26506064 Free PMC article.
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA; GenTAC Registry Consortium; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Kim C, Milewicz DM. Guo DC, et al. Am J Hum Genet. 2013 Aug 8;93(2):398-404. doi: 10.1016/j.ajhg.2013.06.019. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910461 Free PMC article.