Recurrent and founder mutations in inherited cardiac diseases in the Netherlands

Por van Tintelen, J.P., Wilde, A.A.M., Jongbloed, J.D.H.
Publicado em 2009

GENCOR: a national registry for patients and families suffering from a familial heart disease in the Netherlands

Por Hermans, J.F., Christiaans, I., van Tintelen, J.P., Wilde, A.A.M., Pinto, Y.M.
Publicado em 2006

Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management

Por Groeneweg, J. A., van der Heijden, J. F., Dooijes, D., van Veen, T. A. B., van Tintelen, J. P., Hauer, R. N.
Publicado em 2014

Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2

Por Patat, O., van Ravenswaaij-Arts, C.M.A., Tantau, J., Corsten-Janssen, N., van Tintelen, J.P., Dijkhuizen, T., Kaplan, J., Chassaing, N.
Publicado em 2013

An extended family suddenly confronted with a life-threatening hereditary arrhythmia

Por Hendriks, K.S.W.H., van Langen, I.M., van Tintelen, J.P., Grosfeld, F.J.M., Wilde, A.A.M., ten Kroode, H.F.J.
Publicado em 2005

The many faces of aggressive aortic pathology: Loeys-Dietz syndrome

Por Aalberts, J.J.J., van den Berg, M.P., Bergman, J.E.H., du Marchie Sarvaas, G.J., Post, J.G., van Unen, H., Pals, G., Boonstra, P.W., van Tintelen, J.P.
Publicado em 2008

Founder mutations in the Netherlands: SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide

Por Postema, P.G., Van den Berg, M., Van Tintelen, J.P., Van den Heuvel, F., Grundeken, M., Hofman, N., Van der Roest, W.P., Nannenberg, E.A., Krapels, I.P.C., Bezzina, C.R., Wilde, A.
Publicado em 2009

Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation

Por Aalberts, J.J.J., Schuurman, A.G., Pals, G., Hamel, B.J.C., Bosman, G., Hilhorst-Hofstee, Y., Barge-Schaapveld, D.Q.C.M., Mulder, B.J.M., van den Berg, M.P., van Tintelen, J.P.
Publicado em 2010

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

Por Christiaans, I., Nannenberg, E.A., Dooijes, D., Jongbloed, R.J.E., Michels, M., Postema, P.G., Majoor-Krakauer, D., van den Wijngaard, A., Mannens, M.M.A.M., van Tintelen, J.P., van Langen, I.M., Wilde, A.A.M.
Publicado em 2010

A large family characterised by nocturnal sudden death

Por van den Berg, M.P., Viersma, J.W., Beaufort-Krol, G.C.M., Bink-Boelkens, M.Th.E., Bezzina, C.R., Veldkamp, M.W., Brouwer, J., Haaksma, J., van Tintelen, J.P., van Langen, I.M., Wouda, A.A., Wilde, A.A.M.
Publicado em 2002

Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy

Por Otten, E., Lekanne dit Deprez, R.H., Weiss, M.M., van Slegtenhorst, M., Joosten, M., van der Smagt, J.J., de Jonge, N., Kerstjens-Frederikse, W.S., Roofthooft, M.T.R., Balk, A.H.M.M., van den Berg, M.P., Ruiter, J.S., van Tintelen, J.P.
Publicado em 2010

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

Por van den Wijngaard, A., Volders, P., Van Tintelen, J. P., Jongbloed, J. D. H., van den Berg, M. P., Lekanne Deprez, R. H., Mannens, M. M. A. M., Hofmann, N., Slegtenhorst, M., Dooijes, D., Michels, M., Arens, Y., Jongbloed, R., Smeets, B. J. M.
Publicado em 2011

Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D

Por van Spaendonck-Zwarts, K. Y., van der Kooi, A. J., van den Berg, M. P., Ippel, E. F., Boven, L. G., Yee, W.-C., van den Wijngaard, A., Brusse, E., Hoogendijk, J. E., Doevendans, P. A., de Visser, M., Jongbloed, J. D. H., van Tintelen, J. P.
Publicado em 2012

Recurrent and founder mutations in the Netherlands—Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy

Por van der Zwaag, P. A., van Rijsingen, I. A. W., de Ruiter, R., Nannenberg, E. A., Groeneweg, J. A., Post, J. G., Hauer, R. N. W., van Gelder, I. C., van den Berg, M. P., van der Harst, P., Wilde, A. A. M., van Tintelen, J. P.
Publicado em 2013

Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia

Por van der Zwaag, P.A., Cox, M.G.P.J., van der Werf, C., Wiesfeld, A.C.P., Jongbloed, J.D.H., Dooijes, D., Bikker, H., Jongbloed, R., Suurmeijer, A.J.H., van den Berg, M.P., Hofstra, R.M.W., Hauer, R.N.W., Wilde, A.A.M., van Tintelen, J.P.
Publicado em 2011