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Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Meester JA, Vandeweyer G, Pintelon I, Lammens M, Van Hoorick L, De Belder S, Waitzman K, Young L, Markham LW, Vogt J, Richer J, Beauchesne LM, Unger S, Superti-Furga A, Prsa M, Dhillon R, Reyniers E, Dietz HC, Wuyts W, Mortier G, Verstraeten A, Van Laer L, Loeys BL. Meester JA, et al. Among authors: beauchesne lm. Genet Med. 2017 Apr;19(4):386-395. doi: 10.1038/gim.2016.126. Epub 2016 Sep 15. Genet Med. 2017. PMID: 27632686 Free PMC article.
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chénier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B. Cannaerts E, et al. J Med Genet. 2019 Apr;56(4):220-227. doi: 10.1136/jmedgenet-2018-105304. Epub 2018 Jul 2. J Med Genet. 2019. PMID: 29967133
Sex Differences in Thoracic Aortic Aneurysm Growth.
Boczar KE, Cheung K, Boodhwani M, Beauchesne L, Dennie C, Nagpal S, Chan K, Coutinho T. Boczar KE, et al. Hypertension. 2019 Jan;73(1):190-196. doi: 10.1161/HYPERTENSIONAHA.118.11851. Hypertension. 2019. PMID: 30571545
Ruptured mycotic pseudoaneurysm of the thoracic aorta.
Froeschl M, Wolfsohn A, Beauchesne LM. Froeschl M, et al. Among authors: beauchesne lm. Cardiovasc Pathol. 2006 Mar-Apr;15(2):116-8. doi: 10.1016/j.carpath.2005.07.002. Cardiovasc Pathol. 2006. PMID: 16533702
65 results