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Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants.

Linde, D. van der; Laar, I.M. van de; Bertoli-Avella, A.M.; Oldenburg, R.A.; Bekkers, J.A.; Mattace-Raso, F.U.; Meiracker, A.H. van den; Moelker, A.; Kooten, F. van; Frohn-Mulder, I.M.; Timmermans, J. ; Moltzer, E.; Cobben, J.M.; Laer, L. van; Loeys, B.L.; Backer, J. de; Coucke, P.J.; Paepe, A. de; Hilhorst-Hofstee, Y.; Wessels, M.W.; Roos-Hesselink, J.W. et al. sine al.

2012, Article / Letter to editor (Journal of the American College of Cardiology, vol. 60, iss. 5, (2012), pp. 397-403)
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

Laar, I.M. van de; Linde, D. van der; Oei, E.H.; Bos, P.K.; Bessems, J.H.; Bierma-Zeinstra, S.M.; Meer, B.L. van; Pals, G. ; Oldenburg, R.A.; Bekkers, J.A.; Moelker, A.; Graaf, B.M. de; Matyas, G.; Frohn-Mulder, I.M.; Timmermans, J. ; Hilhorst-Hofstee, Y.; Cobben, J.M.; Bruggenwirth, H.T.; Laer, L. van; Loeys, B.L.; Backer, J. de; Coucke, P.J.; Dietz, H.C.; Willems, P.J.; Oostra, B.A.; Paepe, A. de; Roos-Hesselink, J.W.; Bertoli-Avella, A.M.; Wessels, M.W. et al. sine al.

2012, Article / Letter to editor (Journal of Medical Genetics, vol. 49, iss. 1, (2012), pp. 47-57)
NPHP4 variants are associated with pleiotropic heart malformations.

French, V.M.; Laar, I.M. van de; Wessels, M.W.; Rohe, C.; Roos-Hesselink, J.W.; Wang, G.; Frohn-Mulder, I.M.; Severijnen, L.A.; Graaf, B.M. de; Schot, R.; Breedveld, G.; Mientjes, E.; Tienhoven, M. van; Jadot, E.; Jiang, Z.; Verkerk, A.; Swagemakers, S.; Venselaar, H. ; Rahimi, Z.; Najmabadi, H.; Meijers-Heijboer, H.; Graaff, E. de; Helbing, W.A.; Willemsen, R.; Devriendt, K.; Belmont, J.W.; Oostra, B.A.; Amack, J.D.; Bertoli-Avella, A.M. et al. sine al.

2012, Article / Letter to editor (Circulation Research, vol. 110, iss. 12, (2012), pp. 1564-1574)