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Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome.
Stephens SB, Shalhub S, Dodd N, Li J, Huang M, Oda S, Kancherla K, Doan TT, Prakash SK, Weigand JD, Asch FM, Beecroft T, Cecchi A, Shittu T, Preiss L, LeMaire SA, Devereux RB, Pyeritz RE, Holmes KW, Roman MJ, Lacro RV, Shohet RV, Krishnamurthy R, Eagle K, Byers P, Milewicz DM, Morris SA. Stephens SB, et al. Among authors: cecchi a. J Am Heart Assoc. 2023 Oct 3;12(19):e029518. doi: 10.1161/JAHA.123.029518. Epub 2023 Sep 30. J Am Heart Assoc. 2023. PMID: 37776192 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.
RNF213 rare variants in an ethnically diverse population with Moyamoya disease.
Cecchi AC, Guo D, Ren Z, Flynn K, Santos-Cortez RL, Leal SM, Wang GT, Regalado ES, Steinberg GK, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics; Grotta JC, Nickerson DA, Pannu H, Milewicz DM. Cecchi AC, et al. Stroke. 2014 Nov;45(11):3200-7. doi: 10.1161/STROKEAHA.114.006244. Epub 2014 Oct 2. Stroke. 2014. PMID: 25278557 Free PMC article.
220 results