View Author
mutation patient family carrier risk factors variant cardiomyopathy factor analysis diagnosis wild-type tsc 1 heart mutation carriers university ppcm patients screening disease tsc 1 cardiological study phenotype netherland spred department hypertrophic cardiomyopathy wild-type syndrome index tsc 1 variants peripartum cardiomyopathy legius syndrome genetic legiu evaluation phosphorylation individual number p.s 13f death change index patients mybpc peripartum missense figure tsc 2 hypertrophic centre family members founder circulation tsc 1à/à mefs fi rst evaluation relative 6 phosphorylation table dutch cardiological screening women protein swets subs service dcm families genet p.n 342d tuberou signi ficantly signi sclerosis member pregnancy expression erasmus university rotterdam groningen cardiology r 692x variants function ppcm cases desmin family history symbol
6 Most Recent Publications
|
Recurrent and founder mutations in the Netherlands: The cardiac phenotype of DES founder mutations p.S13F and p.N342D
(Article)
Spaendonck-Zwarts, K.Y. van Kooi, A.J. van der Visser, M. de Jongbloed, J.D.H. Tintelen, J.P. van Berg, M.P. van den Ippel, E.F. Boven, L.G. Yee, W.C. Wijngaard, A. van den Brusse, E. Hoogendijk, J.E. Doevendans, P.A. |
2012-05-01
|
|
Response to letter regarding article, Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy
(Article)
Spaendonck-Zwarts, K.Y. van Tintelen, J.P. van Jongbloed, J.D.H. Veldhuisen, D.J. van Werf, R. van der Berg, M.P. van den Paulus, W. Dooijes, D. |
2011-01-18
|
|
Legius syndrome in fourteen families
(Article)
Denayer, E. Chmara, M. Beert, E. Ishizaki, T. Mori, T. Keymolen, K. Ende, J. van den Mangold, E. Peltonen, S. Brice, G. Rankin, J. Spaendonck-Zwarts, K.Y. van Brems, H. Yoshimura, A. Legius, E. Kievit, A.M. Bever, Y. van Ouweland, A.M.W. van den Minkelen, R. van Goede-Bolder, A. de Oostenbrink, R. Lakeman, P. |
2011-01-01
|
|
Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy
(Article)
Spaendonck-Zwarts, K.Y. van Tintelen, J.P. van Veldhuisen, D.J. van Werf, R. van der Jongbloed, J.D.H. Paulus, W.J. Dooijes, D. Berg, M.P. van den |
2010-05-25
|
|
The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening
(Article)
Christiaans, I. Birnie, E. Bonsel, G.J. Wilde, A.A.M. Langen, I.M. van Spaendonck-Zwarts, K.Y. van Tintelen, J.P. van Berg, M.P. van den Atsma, D.E. Helderman-van den Enden, A.T.J.M. Pinto, Y.M. Hermans-van Ast, J.F. |
2010-04-01
|
|
Missense mutations to the TSC1 gene cause tuberous sclerosis complex
(Article)
Nellist, M. Heuvel, D. van den Bartalini, G. Vierimaa, O. Penttinen, M. Ende, J. van den Ouweland, A.M.W. van den Halley, D. Schluep, D. Exalto, C. Goedbloed, M.A. Maat-Kievit, A.A. Essen, T. van Spaendonck-Zwarts, K.Y. van Jansen, F. Helderman, P. |
2009-01-01
|
