The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening
Christiaans, Imke, Birnie, Erwin, van Langen, Irene M., van Spaendonck-Zwarts, Karin Y., van Tintelen, J. Peter, van den Berg, Maarten P., Atsma, Douwe E., Helderman-van den Enden, Apollonia T.J.M., Pinto, Yigal M., Hermans-van Ast, J.F., Bonsel, Gouke J., Wilde, Arthur A.M.
Published in European heart journal (01.04.2010)
Published in European heart journal (01.04.2010)
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Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers
Page, Elizabeth C., Bancroft, Elizabeth K., Brook, Mark N., Assel, Melissa, Hassan Al Battat, Mona, Thomas, Sarah, Taylor, Natalie, Raghallaigh, Holly Ni, Evans, D. Gareth, Maehle, Lovise, Grindedal, Eli Marie, James, Paul, Mascarenhas, Lyon, McKinley, Joanne, Thomas, Tessy, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A., Ringelberg, Janneke, Jensen, Thomas Dyrsø, Osther, Palle J.S., Helfand, Brian T., Genova, Elena, Oldenburg, Rogier A., Cybulski, Cezary, Ong, Kai-Ren, Lam, Jimmy, Taylor, Louise, Feliubadaló, Lidia, van Zelst-Stams, Wendy, Rosario, Derek J., Domchek, Susan, Powers, Jacquelyn, Buys, Saundra, O'Toole, Karen, Ausems, Margreet G.E.M., Schmutzler, Rita K., Rhiem, Kerstin, Izatt, Louise, Cardoso, Marta, Aprikian, Armen, van Randeraad, Heleen, Davidson, Rosemarie, Longmuir, Mark, Helderman van den Enden, Apollonia T.J.M., Adank, Muriel, Williams, Rachel, Andrews, Lesley, Murphy, Declan G., Halliday, Dorothy, Walker, Lisa, Liljegren, Annelie, Carlsson, Stefan, Morton, Catherine, Snape, Katie, Hanson, Helen, Tischkowitz, Marc, Taylor, Amy, Kirk, Judy, Susman, Rachel, Chen-Shtoyerman, Rakefet, Spigelman, Allan, Pachter, Nicholas, Ahmed, Munaza, Ramon y Cajal, Teresa, Brewer, Carole, Gadea, Neus, van Os, Theo, Gallagher, David, Johannsson, Oskar, Barwell, Julian, Nicolai, Nicola, Friedman, Eitan, Greenhalgh, Lynn, Murthy, Vedang, Saya, Sibel, McGrath, John, Rønlund, Karina, Teo, Soo H., Kast, Karin, Aaronson, Neil K., Ardern-Jones, Audrey, Bangma, Chris H., Dearnaley, David, Tricker, Karen, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher, Gronberg, Henrik, Hamdy, Freddie C., Stefansdottir, Vigdis, Khoo, Vincent, Lindeman, Geoffrey J., Lubinski, Jan, Mikropoulos, Christos, Mitra, Anita, Moynihan, Clare, Wilson, Penny, Dudderidge, Tim, Offman, Judith
Published in European urology (01.12.2019)
Published in European urology (01.12.2019)
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A mutation update for the FLNC gene in myopathies and cardiomyopathies
Verdonschot, Job A. J., Vanhoutte, Els K., Claes, Godelieve R. F., Helderman‐van den Enden, Apollonia T. J. M., Hoeijmakers, Janneke G. J., Hellebrekers, Debby M. E. I., Haan, Amber, Christiaans, Imke, Lekanne Deprez, Ronald H., Boen, Hanne M., Craenenbroeck, Emeline M., Loeys, Bart L., Hoedemaekers, Yvonne M., Marcelis, Carlo, Kempers, Marlies, Brusse, Esther, Waning, Jaap I., Baas, Annette F., Dooijes, Dennis, Asselbergs, Folkert W., Barge‐Schaapveld, Daniela Q. C. M., Koopman, Pieter, Wijngaard, Arthur, Heymans, Stephane R. B., Krapels, Ingrid P. C., Brunner, Han G.
Published in Human mutation (01.06.2020)
Published in Human mutation (01.06.2020)
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Standing genetic variation affects phenotypic heterogeneity in an SCN5A-mutation founder population with excess sudden cardiac death
Isaacs, Aaron, Barysenka, Andrei, ter Bekke, Rachel M.A., Helderman-van den Enden, Apollonia T.J.M., van den Wijngaard, Arthur, Volders, Paul G.A., Stoll, Monika
Published in Heart rhythm (01.05.2023)
Published in Heart rhythm (01.05.2023)
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Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers
Claes, Godelieve R F, van Tienen, Florence H J, Lindsey, Patrick, Krapels, Ingrid P C, Helderman-van den Enden, Apollonia T J M, Hoos, Marije B, Barrois, Yvette E G, Janssen, Johanna W H, Paulussen, Aimée D C, Sels, Jan-Willem E M, Kuijpers, Simone H H, van Tintelen, J Peter, van den Berg, Maarten P, Heesen, Wilfred F, Garcia-Pavia, Pablo, Perrot, Andreas, Christiaans, Imke, Salemink, Simone, Marcelis, Carlo L M, Smeets, Hubert J M, Brunner, Han G, Volders, Paul G A, van den Wijngaard, Arthur
Published in European heart journal (14.06.2016)
Published in European heart journal (14.06.2016)
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Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy--a case report
Bekke, Rachel M.A. ter, Schouwer, Koen de, Conti, Sergio, Claes, Godelieve R.F, Vanoevelen, Jo, Gommers, Suzanne, Enden, Apollonia T.J.M. Helderman-van den, Brunner-LaRocca, Hans-Peter
Published in European heart journal : case reports (01.06.2023)
Published in European heart journal : case reports (01.06.2023)
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Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
van de Laar, Ingrid M.B.H., Baas, Annette F., De Backer, Julie, Blankenstein, Jan D., Dulfer, Eelco, Helderman-van den Enden, Apollonia T.J.M., Houweling, Arjan C., Kempers, Marlies JE, Loeys, Bart, Malfait, Fransiska, Robert, Leema, Tanteles, George, Frank, Michael
Published in European journal of medical genetics (01.09.2022)
Published in European journal of medical genetics (01.09.2022)
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Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death
ter Bekke, Rachel M.A., Isaacs, Aaron, Barysenka, Andrei, Hoos, Marije B., Jongbloed, Jan D.H., Hoorntje, Jan C.A., Patelski, Alfons S.M., Helderman-van den Enden, Apollonia T.J.M., van den Wijngaard, Arthur, Stoll, Monika, Volders, Paul G.A.
Published in Heart rhythm (01.12.2017)
Published in Heart rhythm (01.12.2017)
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Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy—a case report
ter Bekke, Rachel M A, de Schouwer, Koen, Conti, Sergio, Claes, Godelieve R F, Vanoevelen, Jo, Gommers, Suzanne, Helderman-van den Enden, Apollonia T J M, Brunner-LaRocca, Hans-Peter
Published in European heart journal : case reports (02.06.2023)
Published in European heart journal : case reports (02.06.2023)
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Manifest 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 strategy
Christiaans, Imke, Birnie, Erwin, Bonsel, Gouke J, Mannens, Marcel M A M, Michels, Michelle, Majoor-Krakauer, Daniëlle, Dooijes, Dennis, van Tintelen, J Peter, van den Berg, Maarten P, Volders, Paul G A, Arens, Yvonne H, van den Wijngaard, Arthur, Atsma, Douwe E, Helderman-van den Enden, Apollonia T J M, Houweling, Arjan C, de Boer, Karin, van der Smagt, Jasper J, Hauer, Richard N W, Marcelis, Carlo L M, Timmermans, Janneke, van Langen, Irene M, Wilde, Arthur A M
Published in European heart journal (01.05.2011)
Published in European heart journal (01.05.2011)
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Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy
Verhagen, Judith M A, Veldman, Job H, van der Zwaag, Paul A, von der Thüsen, Jan H, Brosens, Erwin, Christiaans, Imke, Dooijes, Dennis, Helderman-van den Enden, Apollonia T J M, Lekanne Deprez, Ronald H, Michels, Michelle, van Mil, Anneke M, Oldenburg, Rogier A, van der Smagt, Jasper J, van den Wijngaard, Arthur, Wessels, Marja W, Hofstra, Robert M W, van Slegtenhorst, Marjon A, Jongbloed, Jan D H, van de Laar, Ingrid M B H
Published in European journal of human genetics : EJHG (01.11.2018)
Published in European journal of human genetics : EJHG (01.11.2018)
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Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients
Demirdas, Serwet, van den Bersselaar, Lisa M, Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I M, Baars, Marieke J H, Baas, Annette F, Baysal, Özlem, van der Crabben, Saskia N, Dulfer, Eelco, Giesbertz, Noor A A, Helderman-van den Enden, Apollonia T J M, Hilhorst-Hofstee, Yvonne, Kempers, Marlies J E, Komdeur, Fenne L, Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W, Overwater, Eline, van Tintelen, Peter J, Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T, van de Laar, Ingrid M B H, Houweling, Arjan C
Published in Circulation. Genomic and precision medicine (01.06.2024)
Published in Circulation. Genomic and precision medicine (01.06.2024)
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An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy
Helderman-van den Enden, Apollonia T J M, Madan, Kamlesh, Breuning, Martijn H, van der Hout, Annemieke H, Bakker, Egbert, de Die-Smulders, Christine E M, Ginjaar, Hendrika B
Published in European journal of human genetics : EJHG (06.06.2012)
Published in European journal of human genetics : EJHG (06.06.2012)
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A near false-negative finding of mosaic trisomy 21-a cautionary tale
Beverstock, G. C., Hansson, Kerstin, Helderman-Van Den Enden, Apollonia T. J. M., Bröcker-Vriends, Annette, Klumper, F., Bartelings, Margot, Dobbe-Van Meerendonk, Willemijn, Roosmalen, J. V., Kolkman, P. H., Kanhai, H. H. H.
Published in Prenatal diagnosis (01.07.1998)
Published in Prenatal diagnosis (01.07.1998)
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