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Full TextIssue DateTitleAuthor(s)
2012Phenotypic 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.
2012Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.Lindsay, M.E.; Schepers, D.; Bolar, N.A.; Doyle, J.J.; Gallo, E.; Fert-Bober, J.; Kempers, M.J.E.; Fishman, E.K.; Chen, Y.; Myers, L.; Bjeda, D.; Oswald, G.; Elias, A.F.; Levy, H.P.; Anderlid, B.M.; Yang, M.H.; Bongers, M.H.F.; Timmermans, J.; Braverman, A.C.; Canham, N.; Mortier, G.R.; Brunner, H.G.; Byers, P.H.; Eyk, J. Van; Laer, L. van; Dietz, H.C.; Loeys, B.L.
2012Inflammation aggravates disease severity in Marfan syndrome patients.Radonic, T.; Witte, P. de; Groenink, M.; Waard, V. de; Lutter, R.; Eijk, M. van; Jansen, J.L.M.; Timmermans, J.; Kempers, M.J.; Scholte, A.J.H.A.; Hilhorst-Hofstee, Y.; Berg, M.P van den; Tintelen, J.P. van; Pals, G.; Baars, M.J.; Mulder, B.J.; Zwinderman, A.H.
2012Aggressive 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.
2011Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndromeRadonic, T.; Witte, P. de; Groenink, M.; Bruin-Bon, R.A. de; Timmermans, J.; Scholte, A.J.; Berg, M.P van den; Baars, M.J.; Tintelen, J.P. van; Kempers, M.; Zwinderman, A.H.; Mulder, B.J.M.
2011The clinical spectrum of complete FBN1 allele deletions.Hilhorst-Hofstee, Y.; Hamel, B.C.J.; Verheij, J.B.G.M.; Rijlaarsdam, M.E.; Mancini, G.M.; Cobben, J.M.; Giroth, C.P.; Ruivenkamp, C.A.; Hansson, K.B.; Timmermans, J.; Moll, H.A.; Breuning, M.H.; Pals, G.
2011Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritisLaar, I.M. van de; Oldenburg, R.A.; Pals, G.; Roos-Hesselink, J.W.; Graaf, B.M. de; 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.
2011Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategyChristiaans, I.; Birnie, E.; Bonsel, G.J.; Mannens, M.M.A.M.; Michels, M.; Majoor-Krakauer, D.; Dooijes, D.; Tintelen, J.P. van; Berg, M.P van den; Volders, P.G.; Arens, Y.H.; Wijngaard, A. van den; Atsma, D.E.; Helderman-van den Enden, A.T.; Houweling, A.C.; Boer, K. de; Smagt, J.J. van der; Hauer, R.N.W.; Marcelis, C.L.M.; Timmermans, J.; Langen, I.M. van; Wilde, A.A.M.
2011Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndromeFreriks, K.; Timmermans, J.; Beerendonk, C.C.M.; Verhaak, C.M.; Netea-Maier, R.T.; Otten, B.J.; Braat, D.D.M.; Smeets, D.F.C.M.; Kunst, D.; Hermus, A.R.M.M.; Timmers, H.J.L.M.
2010Losartan therapy in adults with Marfan syndrome: study protocol of the multi-center randomized controlled COMPARE trial.Radonic, T.; Zwinderman, A.H.; Witte, P. de; Bouma, B.J.; Mulder, B.J.; Groenink, M.; Baars, M.J.; Timmermans, J.; Hamel, B.C.J.; Berg, M.P. van den; Tintelen, P.J. van; Scholte, A.J.; Hilhorst-Hofstee, Y.
2009ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia (vol 9, pg 207, 2008)Vermeer, S.; Meijer, R.P.; Pijl, B.J.; Timmermans, J.; Cruysberg, J.R.M.; Bos, M.M.; Schelhaas, H.J.; Warrenburg, B.P.C. van de; Knoers, N.V.A.M.; Scheffer, H.; Kremer, H.P.H.
2009Marfan syndrome masked by Down syndrome?Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.
2009Compound-heterozygous Marfan syndrome.Dijk, F.S. Van; Hamel, B.C.J.; Hilhorst-Hofstee, Y.; Mulder, B.J.; Timmermans, J.; Pals, G.; Cobben, J.M.
2009Neuromuscular features in Marfan syndrome.Voermans, N.C.; Timmermans, J.; Alfen, N. van; Pillen, S.; Akker, J.W. op den; Lammens, M.M.Y.; Zwarts, M.J.; Rooij, I.A.L.M. van; Hamel, B.C.J.; Engelen, B.G.M. van
2009Increased prevalence of migraine in Marfan syndrome.Vis, J.C.; Timmermans, J.; Post, M.C.; Budts, W.; Schepens, M.A.; Thijs, V.; Schonewille, W.J.; Bie, R.M. de; Plokker, H.W.M.; Tijssen, J.G.P.; Mulder, B.J.
2008ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.Vermeer, S.; Meijer, R.P.; Pijl, B.J.; Timmermans, J.; Cruysberg, J.R.M.; Bos, M.M.; Schelhaas, H.J.; Warrenburg, B.P.C. van de; Knoers, N.V.A.M.; Scheffer, H.; Kremer, H.P.H.
2007Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.Overeem, S.; Schelhaas, H.J.; Blijham, P.J.; Grootscholten, M.I.; Laak, H.J. ter; Timmermans, J.; Wijngaard, A. van de; Zwarts, M.J.
2007[Turner syndrome in adulthood: the need for multidisciplinary care]Freriks, K.; Beerendonk, C.C.M.; Timmermans, J.; Braat, D.D.M.; Hermus, A.R.M.M.; Timmers, H.J.L.M.
2006Troponin release at rest and after exercise in patients with hypertrophic cardiomyopathy and the role for betablockade.Pop, G.A.M.; Cramer, G.E.; Timmermans, J.; Bos, J.S.; Verheugt, F.W.A.
2006Obstetric complications in Marfan syndrome.Meijboom, L.J.; Drenthen, W.; Pieper, P.G.; Groenink, M.; Post, J.A.; Timmermans, J.; Voors, A.A.; Roos-Hesselink, J.W.; Veldhuisen, D.J. van; Mulder, B.J.M.
2005Evaluation of left ventricular dimensions and function in Marfan's syndrome without significant valvular regurgitation.Meijboom, L.J.; Timmermans, J.; Tintelen, J.P. van; Nollen, G.J.; Backer, J. de; Berg, M.P van den; Boers, G.H.J.; Mulder, B.J.M.
2005Molecular effects of homocysteine on cbEGF domain structure: insights into the pathogenesis of homocystinuria.Hutchinson, S.; Aplin, R.T.; Webb, H.; Kettle, S.; Timmermans, J.; Boers, G.H.J.; Handford, P.A.
2005Aortic root growth in men and women with the Marfan's syndrome.Meijboom, L.J.; Timmermans, J.; Zwinderman, A.H.; Engelfriet, P.M.; Mulder, B.J.M.
2005Pregnancy and aortic root growth in the Marfan syndrome: a prospective study.Meijboom, L.J.; Vos, F.E.; Timmermans, J.; Boers, G.H.J.; Zwinderman, A.H.; Mulder, B.J.M.
2004Idebenonebehandeling bij Friedreich-ataxieBos, M.M.; Timmermans, J.; Kremer, H.P.H.
2004A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X.Peeters, A.C.T.; Kucharekova, M.; Timmermans, J.; Berkmortel, F.W.P.J. van den; Boers, G.H.J.; Nováková, I.R.O.; Egging, D.; Heijer, M. den; Schalkwijk, J.
1997Lipomatous hypertrophy of the interatrial septum: indication for surgery?Zeebregts, C.J.A.M.; Hensens, A.G.; Timmermans, J.; Pruszczynski, M.S.; Lacquet, L.K.
1996Transient bilateral cortical blindness as a presenting symptom of infective endocarditisStalenhoef, A.F.H.; Timmermans, J.; Meer, J.W.M. van der

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