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Items: 5

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.

J Am Coll Cardiol. 2017 Jun 13;69(23):2821-2830. doi: 10.1016/j.jacc.2017.04.026.

2.

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.

Elife. 2015 Oct 27;4. pii: e08648. doi: 10.7554/eLife.08648.

3.

Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome.

Cook JR, Carta L, BĂ©nard L, Chemaly ER, Chiu E, Rao SK, Hampton TG, Yurchenco P; GenTAC Registry Consortium, Costa KD, Hajjar RJ, Ramirez F.

J Clin Invest. 2014 Mar;124(3):1329-39. doi: 10.1172/JCI71059. Epub 2014 Feb 17.

4.

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.

Am J Hum Genet. 2013 Aug 8;93(2):398-404. doi: 10.1016/j.ajhg.2013.06.019. Epub 2013 Aug 1.

5.

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.

Am J Med Genet A. 2013 Apr;161A(4):779-86. doi: 10.1002/ajmg.a.35836. Epub 2013 Feb 26.

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