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441 results

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Page 1
Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve.
Carlisle SG, Albasha H, Michelena H, Sabate-Rotes A, Bianco L, De Backer J, Mosquera LM, Yetman AT, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Guo DC, Citro R, De Marco M, Tretter JT, McBride KL; EBAV Investigators; BAVCon Investigators; Milewicz DM, Body SC, Prakash SK. Carlisle SG, et al. Among authors: de marco m, de backer j. medRxiv [Preprint]. 2023 Oct 24:2023.10.23.23297397. doi: 10.1101/2023.10.23.23297397. medRxiv. 2023. PMID: 37961530 Free PMC article. Preprint.
MAT2A mutations predispose individuals to thoracic aortic aneurysms.
Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J; GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project; Montalcino Aortic Consortium; Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM. Guo DC, et al. Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31. Am J Hum Genet. 2015. PMID: 25557781 Free PMC article.
Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse.
Rippe M, De Backer J, Kutsche K, Mosquera LM, Schüler H, Rybczynski M, Bernhardt AM, Keyser B, Hillebrand M, Mir TS, Berger J, Blankenberg S, Koschyk D, von Kodolitsch Y. Rippe M, et al. Among authors: de backer j. Int J Cardiol Heart Vasc. 2016 Jan 21;10:39-46. doi: 10.1016/j.ijcha.2016.01.002. eCollection 2016 Mar. Int J Cardiol Heart Vasc. 2016. PMID: 28616514 Free PMC article.
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
Regalado ES, Mellor-Crummey L, De Backer J, Braverman AC, Ades L, Benedict S, Bradley TJ, Brickner ME, Chatfield KC, Child A, Feist C, Holmes KW, Iannucci G, Lorenz B, Mark P, Morisaki T, Morisaki H, Morris SA, Mitchell AL, Ostergaard JR, Richer J, Sallee D, Shalhub S, Tekin M; Montalcino Aortic Consortium; Estrera A, Musolino P, Yetman A, Pyeritz R, Milewicz DM. Regalado ES, et al. Among authors: de backer j. Genet Med. 2018 Oct;20(10):1206-1215. doi: 10.1038/gim.2017.245. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300374 Free PMC article.
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.
Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Adès LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay ME, Morisaki H, Morisaki T, Pachter N, Robert L, Van Laer L, Dietz HC, Loeys BL, Milewicz DM, De Backer J. Renard M, et al. Among authors: de backer j. J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089. J Am Coll Cardiol. 2018. PMID: 30071989 Free PMC article.
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM. Hostetler EM, et al. Among authors: de backer j. J Med Genet. 2019 Apr;56(4):252-260. doi: 10.1136/jmedgenet-2018-105583. Epub 2019 Jan 19. J Med Genet. 2019. PMID: 30661052
Reply: More Genes for Thoracic Aortic Aneurysms and Dissections.
Renard M, Milewicz DM, De Backer J. Renard M, et al. Among authors: de backer j. J Am Coll Cardiol. 2019 Feb 5;73(4):529-530. doi: 10.1016/j.jacc.2018.11.027. J Am Coll Cardiol. 2019. PMID: 30704587 Free article. No abstract available.
SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections.
Duan XY, Guo DC, Regalado ES, Shen H; University of Washington Center for Mendelian Genomics; Coselli JS, Estrera AL, Safi HJ, Bamshad MJ, Nickerson DA, LeMaire SA, De Backer J, Milewicz DM. Duan XY, et al. Among authors: de backer j. Eur J Hum Genet. 2019 Jul;27(7):1054-1060. doi: 10.1038/s41431-019-0357-x. Epub 2019 Feb 26. Eur J Hum Genet. 2019. PMID: 30809044 Free PMC article. Clinical Trial.
441 results