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dai: 298678691
scopus: 23108116100

Wessels, M.W.

(Marja Wessels)


patient mutation family heart genet syndrome analysis deletion valve defect anomaly aortic protein study rbm 24a variant cardiomyopathy abnormality disease development embryo phenotype feature chromosome expression genetic aneurysm tsc 1 swets subs service stenosi figure morphant department tsc 1 gene noncompaction table change rbm 24b tsc 2 variants 11.2 novel region malformations downloaded right netherland university factor cause retardation osteoarthritis atresia zebrafish relative missense tsc 2 gene proband 72 hpf vacterl association tuberous sclerosis septal substitution atrial parent result screening autosomal heart malformations tuberou family members sclerosis center rbm 24a mo association index case examination cardiological vena cava non-compaction control




10 Most Recent Publications

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus (Article)
Harakalova, M. Smagt, J.J. van der Wessels, M.W. Baars, H.F. Weiss, M.M. Pals, G. Golmard, L. Jeunemaitre, X. Lindhout, D. Cuppen, E. Baas, A.F. Kovel, C.G.F. de Slot, R.V. Poot, M. Nijman, I.J. Medic, J. Joziasse, I.C. Deckers, J.W. Roos-Hesselink, J.W.
2013-05-01
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
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
Identification of RNA binding motif proteins essential for cardiovascular development (Article)
Maragh, S. Miller, R.A. McCallion, A.S. Bessling, S.L. McGaughey, D.M. Wessels, M.W. Graaf, B.M. de Stone, E.A. Bertoli Avella, A.M. Gearhart, J.D. Fisher, S.
2011-10-20
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
5q11.2 deletion in a patient with tracheal agenesis (Article)
Jong, E.M. de Douben, H. Eussen, B.H.J. Felix, J.F. Wessels, M.W. Poddighe, P. Nikkels, P.G.J. Krijger, R.R. de Tibboel, D. Klein, J.E.M.M. de
2010-11-01
The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy (Article)
Hoedemaekers, Y.M. Caliskan, K. Michels, M. Frohn-Mulder, I.M.E. Smagt, J.J. van der Phefferkorn, J.E. Wessels, M.W. Cate, F.J. ten Sijbrands, E.J.G. Majoor-Krakauer, D.F.
2010-06-01
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
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
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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