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patient mutation family syndrome genet valve protein aortic deletion heart anomaly defect analysis study group vaccine abnormality x syndrome aneurysm hair roots disease feature genetic table 11.2 development department osteoarthritis stenosi malformations autosomal novel expression atresia vacterl association region factor chromosome cause retardation center mmrv -12m group family members netherland interval subject vena cava heart malformations cardiomyopathy result septal heterotaxy university month right binding individual polyalanine smad 3 mutation lcr 22-c control situs dissection marker artery disorder identi bicuspid aortic valve atrial non-compaction varicella presence antibody identi fied x patients examination smad 3 mutations association blood mmrv -4w group
10 Most Recent Publications
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Phenotypic variability of atypical 22q11.2 deletions not including TBX1
(Article)
Verhagen, J.M.A. Diderich, K. Srebniak, M. Opstal, D. van Hulsman, L.O. Zutven, L.J.C.M. van Wessels, M.W. Oudesluijs, G.G. Mancini, G.M.S. Eggink, A.J. Verkleij-Hagoort , A.C. Groenenberg, I.A.L. Willems, P.J. Du Plessis, F. Man, S.A. de |
2012-10-01
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Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
(Article)
Laar, I.M.B.H. van de Linde, D. van der Moelker, A. Graaf, B.M. de Matyas, G. Frohn-Mulder, I.M.E. Timmermans, J. Hilhorst-Hofstee, Y. Cobben, J.M. Brüggenwirth, H.T. Laer, L. van Loeys, B. Oei, E.H.G. Backer, J. de Coucke, P. Dietz, H.C. Willems, P.J. Oostra, B.A. Paepe, A. de Roos-Hesselink, J.W. Bertoli Avella, A.M. Wessels, M.W. Bos, P.K. Bessems, J.H.J.M. Bierma-Zeinstra, S.M.A. Meer, B.L. van Pals, G. Oldenburg, R. Bekkers, J.A. |
2012-01-01
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Immunogenicity and safety of a measles-mumps-rubella-varicella vaccine following a 4-week or a 12-month interval between two doses
(Article)
Rümke, H.C. Loch, H.P. Hoppenbrouwers, K. Vandermeulen, C. Malfroot, A. Helm, K. Douha, M. Willems, P.J. |
2011-04-18
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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
(Article)
Laar, I.M.B.H. van de Oldenburg, R. Vriend, G. Pattynama, P.M.T. Collee, J.M. Majoor-Krakauer, D.F. Poldermans, D. Frohn-Mulder, I.M.E. Micha, D. Timmermans, J. Hilhorst-Hofstee, Y. Bierma-Zeinstra, S.M.A. Pals, G. Willems, P.J. Kros, J.M. Oei, E.H.G. Oostra, B.A. Wessels, M.W. Bertoli Avella, A.M. Roos-Hesselink, J.W. Graaf, B.M. de Verhagen, J.M.A. Hoedemaekers, Y.M. Willemsen, R. Severijnen, L.A. Venselaar, H. |
2011-02-01
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Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: A new polyalanine disorder?
(Article)
Wessels, M.W. Kuchina, B. Casey, B. Heydanus, R. Smit, B.J. Dooijes, D. Krijger, R.R. de Lequin, M.H. Jong, E.M. de Husen, M. Willems, P.J. |
2010-05-01
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Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations
(Article)
Valstar, M.J. Bertoli Avella, A.M. Tokatli, A. Czartoryska, B. Bosschaart, A.N. Bos-Terpstra, F. van den Puissant, H. Bürger, F. Omran, H. Eckert, D. Filocamo, M. Simeonov, E. Wessels, M.W. Willems, P.J. Wevers, R.A. Diggelen, O.P. van Niermeijer, M.F. Halley, D. Poorthuis, B.J. Ruijter, G.J.G. Graaf, B.M. de Olmer, R. Elfferich, P. Neijs, S. Kariminejad, R. Ezgü, F.S. |
2010-05-01
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Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome
(Article)
Shkalim, V. Baris, H.N. Schirmacher, A. Bale, S. Shohat, M. Willems, P.J. Gal, G. Gleiss, R. Calderon, S. Wessels, M.W. Maat-Kievit, A.A. Menten, B. Baere, E. de Hennekam, R.C.M. |
2009-12-01
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Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy
(Article)
Verkerk, J.H.M. Schot, R. Hirst, J. Wessels, M.W. Catsman-Berrevoets, C.E. Verheijen, F.W. Graaff, E. de Coo, I.F.M. de Kros, J.M. Willemsen, R. Willems, P.J. Spek, P.J. van der Dumee, B. Mancini, G.M.S. Schellekens, K. Swagemakers, S.M.A. Bertoli Avella, A.M. Leguin, M. Dudink, J. Govaert, P. Zwol, A.L. van |
2009-07-10
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Autosomal dominant inheritance of cardiac valves anomalies in two families: Extended spectrum of left-ventricular outflow tract obstruction
(Article)
Wessels, M.W. Laar, I.M.B.H. van de Willems, P.J. Roos-Hesselink, J.W. Strikwerda, S. Majoor-Krakauer, D.F. Vries, B.B.A. de Kerstjense-Frederikse, W.S. Vos, Y.J. Graaf, B.M. de Bertoli Avella, A.M. |
2009-02-01
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Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations
(Article)
Wessels, M.W. Willems, P.J. |
2008-07-01
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