Aubart, M., Gobert, D., Aubart-Cohen, F., Detaint, D., Hanna, N., d'Indya, H., Lequintrec, J.S., Renard, P., Vigneron, A.M., Dieude, P., Laissy, J.P., Koch, P., Muti, C., Roume, J., Cusin, V., Grandchamp, B., Gouya, L., LeGuern, E., Papo, T., Boileau, C., Jondeau, G., Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition. PLoS One, 9(5), 2014, e96387.
Berthet, E., Hanna, N., Giraud, C., Soubrier, M., A case of rheumatoid arthritis associated with SMAD3 gene mutation: a new clinical entity?. J. rheumatol., 42(3), 2015, 556.
Campens, L., Callewaert, B., Muino Mosquera, L., Renard, M., Symoens, S., De Paepe, A., Coucke, P., De Backer, J., Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients. Orphanet J. rare Dis., 10, 2015, 9.
Fitzgerald, K.K., Bhat, A.M., Conard, K., Hyland, J., Pizarro, C., Novel SMAD3 mutation in a patient with hypoplastic left heart syndrome with significant aortic aneurysm. Case Rep. Genet., 2014, 2014, 591516.
Kamato, D., Burch, M.L., Piva, T.J., Rezaei, H.B., Rostam, M.A., Xu, S., Zheng, W., Little, P.J., Osman, N., Transforming growth factor-beta signalling: role and consequences of Smad linker region phosphorylation. Cell. Signal. 25:10 (2013), 2017–2024.
Loeys, B.L., Schwarze, U., Holm, T., Callewaert, B.L., Thomas, G.H., Pannu, H., De Backer, J.F., Oswald, G.L., Symoens, S., Manouvrier, S., Roberts, A.E., Faravelli, F., Greco, M.A., Pyeritz, R.E., Milewicz, D.M., Coucke, P.J., Cameron, D.E., Braverman, A.C., Byers, P.H., De Paepe, A.M., Dietz, H.C., Aneurysm syndromes caused by mutations in the TGF-beta receptor. N. Engl. J. Med. 355:8 (2006), 788–798.
MacCarrick, G., Black, J.H. 3rd, Bowdin, S., El-Hamamsy, I., Frischmeyer-Guerrerio, P.A., Guerrerio, A.L., Sponseller, P.D., Loeys, B., Dietz, H.C. 3rd, Loeys-Dietz syndrome: a primer for diagnosis and management. Genet. Med. 16:8 (2014), 576–587.
Martens, T., Van Herzeele, I., De Ryck, F., Renard, M., De Paepe, A., Francois, K., Vermassen, F., De Backer, J., Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome. Ann. Thorac. Surg. 95:1 (2013), 332–335.
Proost, D., Vandeweyer, G., Meester, J.A., Salemink, S., Kempers, M., Ingram, C., Peeters, N., Saenen, J., Vrints, C., Lacro, R.V., Roden, D., Wuyts, W., Dietz, H.C., Mortier, G., Loeys, B.L., Van Laer, L., Performant mutation identification using targeted next-generation sequencing of 14 thoracic aortic aneurysm genes. Hum. Mutat. 36:8 (2015), 808–814.
Regalado, E.S., Guo, D.C., Villamizar, C., Avidan, N., Gilchrist, D., McGillivray, B., Clarke, L., Bernier, F., Santos-Cortez, R.L., Leal, S.M., Bertoli-Avella, A.M., Shendure, J., Rieder, M.J., Nickerson, D.A., Project, N.G.E.S., Milewicz, D.M., Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ. Res. 109:6 (2011), 680–686.
van de Laar, I.M., Oldenburg, R.A., Pals, G., Roos-Hesselink, J.W., de Graaf, B.M., Verhagen, J.M., Hoedemaekers, Y.M., Willemsen, R., Severijnen, L.A., Venselaar, H., Vriend, G., Pattynama, P.M., Collee, M., Majoor-Krakauer, D., Poldermans, D., Frohn-Mulder, I.M., Micha, D., Timmermans, J., Hilhorst-Hofstee, Y., Bierma-Zeinstra, S.M., Willems, P.J., Kros, J.M., Oei, E.H., Oostra, B.A., Wessels, M.W., Bertoli-Avella, A.M., Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat. Genet. 43:2 (2011), 121–126.
van de Laar, I.M., van der Linde, D., Oei, E.H., Bos, P.K., Bessems, J.H., Bierma-Zeinstra, S.M., van Meer, B.L., Pals, G., Oldenburg, R.A., Bekkers, J.A., Moelker, A., de Graaf, B.M., Matyas, G., Frohn-Mulder, I.M., Timmermans, J., Hilhorst-Hofstee, Y., Cobben, J.M., Bruggenwirth, H.T., van Laer, L., Loeys, B., De Backer, J., Coucke, P.J., Dietz, H.C., Willems, P.J., Oostra, B.A., De Paepe, A., Roos-Hesselink, J.W., Bertoli-Avella, A.M., Wessels, M.W., Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J. Med. Genet. 49:1 (2012), 47–57.
van de Luijtgaarden, K.M., Heijsman, D., Maugeri, A., Weiss, M.M., Verhagen, H.J., A, I.J., Bruggenwirth, H.T., Majoor-Krakauer, D., First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm. Hum. Genet. 134:8 (2015), 881–893.
van der Linde, D., van de Laar, I.M., Bertoli-Avella, A.M., Oldenburg, R.A., Bekkers, J.A., Mattace-Raso, F.U., van den Meiracker, A.H., Moelker, A., van Kooten, F., Frohn-Mulder, I.M., Timmermans, J., Moltzer, E., Cobben, J.M., van Laer, L., Loeys, B., De Backer, J., Coucke, P.J., De Paepe, A., Hilhorst-Hofstee, Y., Wessels, M.W., Roos-Hesselink, J.W., Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. J. Am. Coll. Cardiol. 60:5 (2012), 397–403.
Wischmeijer, A., Van Laer, L., Tortora, G., Bolar, N.A., Van Camp, G., Fransen, E., Peeters, N., di Bartolomeo, R., Pacini, D., Gargiulo, G., Turci, S., Bonvicini, M., Mariucci, E., Lovato, L., Brusori, S., Ritelli, M., Colombi, M., Garavelli, L., Seri, M., Loeys, B.L., Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. Am. J. Med. Genet. Part A 161A:5 (2013), 1028–1035.
Zhang, W., Zhou, M., Liu, C., Liu, C., Qiao, T., Huang, D., Ran, F., Wang, W., Liu, C., Liu, Z., A novel mutation of SMAD3 identified in a Chinese family with aneurysms-osteoarthritis syndrome. BioMed Res. Int., 2015, 2015, 968135.