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3. A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients

Author

Nagyova, Emilia, Hoorntje, Edgar T., te Rijdt, Wouter P., Bosman, Laurens P., Syrris, Petros, Protonotarios, Alexandros, Elliott, Perry M., Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R. G., Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jens, Christensen, Alex H., Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M., Duru, Firat, Koskenvuo, Juha W., Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P., Dooijes, Dennis, Lekanne Deprez, Ronald H., Basso, Cristina, Pilichou, Kalliopi, Bauce, Barbara, Wilde, Arthur A. M., Charron, Philippe, Fressart, Véronique, van der Heijden, Jeroen F., van den Berg, Maarten P., Asselbergs, Folkert W., James, Cynthia A., Jongbloed, Jan D. H., Harakalova, Magdalena, and van Tintelen, J. Peter

Published
2023
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5. The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant

Author

Bos, Thomas A., Piers, Sebastiaan R. D., Wessels, Marja W., Houweling, Arjan C., Bökenkamp, Regina, Bootsma, Marianne, Bosman, Laurens P., Evertz, Reinder, Hellebrekers, Debby M. E. I., Hoedemaekers, Yvonne M., Knijnenburg, Jeroen, Lekanne Deprez, Ronald, van Mil, Anneke M., te Riele, Anneline S. J. M., van Slegtenhorst, Marjon A., Wilde, Arthur A. M., Yap, Sing-Chien, Dooijes, Dennis, Koopmann, Tamara T., van Tintelen, J. Peter, and Barge-Schaapveld, Daniela Q. C. M.

Published
2023
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6. MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

Author

Marsili, Luisa, van Lint, Freyja H. M., Russo, Francesco, van Spaendonck-Zwarts, Karin Y., Ader, Flavie, Bichon, Marie-Line, Faivre, Laurence, Houweling, Arjan C., Isidor, Bertrand, Lekanne Deprez, Ronald H., Cox, Moniek G. P. J., Wilde, Arthur A. M., Mazel, Benoit, Mercier, Sandra, Dooijes, Dennis, Millat, Gilles, Nguyen, Karine, Post, Jan G., Richard, Pascale, van de Beek, Irma, Vermeer, Alexa M. C., Boven, Ludolf, Jongbloed, Jan D. H., and van Tintelen, J. Peter

Published
2023
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8. Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human

Author

Niskanen, Julia E., Ohlsson, Åsa, Ljungvall, Ingrid, Drögemüller, Michaela, Ernst, Robert F., Dooijes, Dennis, van Deutekom, Hanneke W. M., van Tintelen, J. Peter, Snijders Blok, Christian J. B., van Vugt, Marion, van Setten, Jessica, Asselbergs, Folkert W., Petrič, Aleksandra Domanjko, Salonen, Milla, Hundi, Sruthi, Hörtenhuber, Matthias, Kere, Juha, Pyle, W. Glen, Donner, Jonas, Postma, Alex V., Leeb, Tosso, Andersson, Göran, Hytönen, Marjo K., Häggström, Jens, Wiberg, Maria, Friederich, Jana, Eberhard, Jenny, Harakalova, Magdalena, van Steenbeek, Frank G., Wess, Gerhard, and Lohi, Hannes

Published
2023
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9. Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

Author

Jordan, Elizabeth, Peterson, Laiken, Ai, Tomohiko, Asatryan, Babken, Bronicki, Lucas, Brown, Emily, Celeghin, Rudy, Edwards, Matthew, Fan, Judy, Ingles, Jodie, James, Cynthia A, Jarinova, Olga, Johnson, Renee, Judge, Daniel P, Lahrouchi, Najim, Deprez, Ronald H Lekanne, Lumbers, R Thomas, Mazzarotto, Francesco, Domingo, Argelia Medeiros, Miller, Rebecca L, Morales, Ana, Murray, Brittney, Peters, Stacey, Pilichou, Kalliopi, Protonotarios, Alexandros, Semsarian, Christopher, Shah, Palak, Syrris, Petros, Thaxton, Courtney, van Tintelen, J Peter, Walsh, Roddy, Wang, Jessica, Ware, James, and Hershberger, Ray E

Subjects
Cardiovascular, Genetics, Heart Disease, Rare Diseases, Biotechnology, Cardiomyopathy, Dilated, Evidence-Based Medicine, Expert Testimony, Genetic Predisposition to Disease, Genetic Testing, Humans, cardiomyopathy, genetics, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology
Abstract

BackgroundEach of the cardiomyopathies, classically categorized as hypertrophic cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy, has a signature genetic theme. Hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy are largely understood as genetic diseases of sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning >10 gene ontologies have been implicated in DCM, representing a complex and diverse genetic architecture. To clarify this, a systematic curation of evidence to establish the relationship of genes with DCM was conducted.MethodsAn international panel with clinical and scientific expertise in DCM genetics evaluated evidence supporting monogenic relationships of genes with idiopathic DCM. The panel used the Clinical Genome Resource semiquantitative gene-disease clinical validity classification framework with modifications for DCM genetics to classify genes into categories on the basis of the strength of currently available evidence. Representation of DCM genes on clinically available genetic testing panels was evaluated.ResultsFifty-one genes with human genetic evidence were curated. Twelve genes (23%) from 8 gene ontologies were classified as having definitive (BAG3, DES, FLNC, LMNA, MYH7, PLN, RBM20, SCN5A, TNNC1, TNNT2, TTN) or strong (DSP) evidence. Seven genes (14%; ACTC1, ACTN2, JPH2, NEXN, TNNI3, TPM1, VCL) including 2 additional ontologies were classified as moderate evidence; these genes are likely to emerge as strong or definitive with additional evidence. Of these 19 genes, 6 were similarly classified for hypertrophic cardiomyopathy and 3 for arrhythmogenic right ventricular cardiomyopathy. Of the remaining 32 genes (63%), 25 (49%) had limited evidence, 4 (8%) were disputed, 2 (4%) had no disease relationship, and 1 (2%) was supported by animal model data only. Of the 16 evaluated clinical genetic testing panels, most definitive genes were included, but panels also included numerous genes with minimal human evidence.ConclusionsIn the curation of 51 genes, 19 had high evidence (12 definitive/strong, 7 moderate). It is notable that these 19 genes explain only a minority of cases, leaving the remainder of DCM genetic architecture incompletely addressed. Clinical genetic testing panels include most high-evidence genes; however, genes lacking robust evidence are also commonly included. We recommend that high-evidence DCM genes be used for clinical practice and that caution be exercised in the interpretation of variants in variable-evidence DCM genes.

Published
2021

10. Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy

Author

Roberts, Jason D, Murphy, Nathaniel P, Hamilton, Robert M, Lubbers, Ellen R, James, Cynthia A, Kline, Crystal F, Gollob, Michael H, Krahn, Andrew D, Sturm, Amy C, Musa, Hassan, El-Refaey, Mona, Koenig, Sara, Aneq, Meriam Åström, Hoorntje, Edgar T, Graw, Sharon L, Davies, Robert W, Rafiq, Muhammad Arshad, Koopmann, Tamara T, Aafaqi, Shabana, Fatah, Meena, Chiasson, David A, Taylor, Matthew RG, Simmons, Samantha L, Han, Mei, van Opbergen, Chantal JM, Wold, Loren E, Sinagra, Gianfranco, Mittal, Kirti, Tichnell, Crystal, Murray, Brittney, Codima, Alberto, Nazer, Babak, Nguyen, Duy T, Marcus, Frank I, Sobriera, Nara, Lodder, Elisabeth M, van den Berg, Maarten P, Spears, Danna A, Robinson, John F, Ursell, Philip C, Green, Anna K, Skanes, Allan C, Tang, Anthony S, Gardner, Martin J, Hegele, Robert A, van Veen, Toon AB, Wilde, Arthur AM, Healey, Jeff S, Janssen, Paul ML, Mestroni, Luisa, van Tintelen, J Peter, Calkins, Hugh, Judge, Daniel P, Hund, Thomas J, Scheinman, Melvin M, and Mohler, Peter J

Subjects
Heart Disease, Cardiovascular, Clinical Research, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Animals, Ankyrins, Arrhythmogenic Right Ventricular Dysplasia, Disease Models, Animal, Female, Humans, Indoles, Male, Maleimides, Mice, Mice, Knockout, Myocardium, Wnt Signaling Pathway, beta Catenin, Arrhythmias, Cardiology, Cardiovascular disease, Cell Biology, Genetic diseases, Medical and Health Sciences, Immunology
Abstract

Arrhythmogenic cardiomyopathy (ACM) is an inherited arrhythmia syndrome characterized by severe structural and electrical cardiac phenotypes, including myocardial fibrofatty replacement and sudden cardiac death. Clinical management of ACM is largely palliative, owing to an absence of therapies that target its underlying pathophysiology, which stems partially from our limited insight into the condition. Following identification of deceased ACM probands possessing ANK2 rare variants and evidence of ankyrin-B loss of function on cardiac tissue analysis, an ANK2 mouse model was found to develop dramatic structural abnormalities reflective of human ACM, including biventricular dilation, reduced ejection fraction, cardiac fibrosis, and premature death. Desmosomal structure and function appeared preserved in diseased human and murine specimens in the presence of markedly abnormal β-catenin expression and patterning, leading to identification of a previously unknown interaction between ankyrin-B and β-catenin. A pharmacological activator of the WNT/β-catenin pathway, SB-216763, successfully prevented and partially reversed the murine ACM phenotypes. Our findings introduce what we believe to be a new pathway for ACM, a role of ankyrin-B in cardiac structure and signaling, a molecular link between ankyrin-B and β-catenin, and evidence for targeted activation of the WNT/β-catenin pathway as a potential treatment for this disease.

Published
2019

12. Rationale and design of the PHOspholamban RElated CArdiomyopathy intervention STudy (i-PHORECAST)

Author

te Rijdt, W. P., Hoorntje, E. T., de Brouwer, R., Oomen, A., Amin, A., van der Heijden, J. F., Karper, J. C., Westenbrink, B. D., Silljé, H. H. W., te Riele, A. S. J. M., Wiesfeld, A. C. P., van Gelder, I. C., Willems, T. P., van der Zwaag, P. A., van Tintelen, J. P., Hillege, J. H., Tan, H. L., van Veldhuisen, D. J., Asselbergs, F. W., de Boer, R. A., Wilde, A. A. M., and van den Berg, M. P.

Published
2022
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13. The impact of comorbidities and substance use on heart failure events and major ventricular arrhythmias in phospholamban p.(Arg14del) positive individuals

Author

Van Der Heide, M Y C, primary, Verstraelen, T E, additional, Mahmoud, B, additional, Van Drie, E, additional, De Brouwer, R, additional, Proost, V M, additional, Houweling, A C, additional, Dickhoff, C, additional, Germans, T, additional, Te Riele, A S J M, additional, Van Spaendonck-Zwarts, K Y, additional, Cox, G P J, additional, Van Tintelen, J P, additional, Zwinderman, A H, additional, and Wilde, A A M, additional

Published
2024
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14. New joint model for the dynamic prediction of heart failure in phospholamban (PLN) p.(Arg14del) positive individuals

Author

Van Der Heide, M Y C, primary, Verstraelen, T E, additional, Van Drie, E, additional, De Brouwer, R, additional, Proost, V M, additional, Houweling, A C, additional, Dickhoff, C, additional, Germans, T, additional, Gimeno-Blanes, J R, additional, Te Riele, A S J M, additional, Van Spaendonck-Zwarts, K Y, additional, Cox, G P J, additional, Van Tintelen, J P, additional, Zwinderman, A H, additional, and Wilde, A A M, additional

Published
2024
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15. BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status

Author

Jansen, M., Christiaans, I., van der Crabben, S. N., Michels, M., Huurman, R., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., Jans, J. J. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., and Baas, A. F.

Published
2021
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17. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

Author

Tadros, Rafik, Francis, Catherine, Xu, Xiao, Vermeer, Alexa M. C., Harper, Andrew R., Huurman, Roy, Kelu Bisabu, Ken, Walsh, Roddy, Hoorntje, Edgar T., te Rijdt, Wouter P., Buchan, Rachel J., van Velzen, Hannah G., van Slegtenhorst, Marjon A., Vermeulen, Jentien M., Offerhaus, Joost Allard, Bai, Wenjia, de Marvao, Antonio, Lahrouchi, Najim, Beekman, Leander, Karper, Jacco C., Veldink, Jan H., Kayvanpour, Elham, Pantazis, Antonis, Baksi, A. John, Whiffin, Nicola, Mazzarotto, Francesco, Sloane, Geraldine, Suzuki, Hideaki, Schneider-Luftman, Deborah, Elliott, Paul, Richard, Pascale, Ader, Flavie, Villard, Eric, Lichtner, Peter, Meitinger, Thomas, Tanck, Michael W. T., van Tintelen, J. Peter, Thain, Andrew, McCarty, David, Hegele, Robert A., Roberts, Jason D., Amyot, Julie, Dubé, Marie-Pierre, Cadrin-Tourigny, Julia, Giraldeau, Geneviève, L’Allier, Philippe L., Garceau, Patrick, Tardif, Jean-Claude, Boekholdt, S. Matthijs, Lumbers, R. Thomas, Asselbergs, Folkert W., Barton, Paul J. R., Cook, Stuart A., Prasad, Sanjay K., O’Regan, Declan P., van der Velden, Jolanda, Verweij, Karin J. H., Talajic, Mario, Lettre, Guillaume, Pinto, Yigal M., Meder, Benjamin, Charron, Philippe, de Boer, Rudolf A., Christiaans, Imke, Michels, Michelle, Wilde, Arthur A. M., Watkins, Hugh, Matthews, Paul M., Ware, James S., and Bezzina, Connie R.

Published
2021
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18. Influence of stressful life events and personality traits on PLN cardiomyopathy severity:an exploratory study

Author

van Drie, E., Taal, S. E. L., Schmidt, A. F., Verstraelen, T. E., de Brouwer, R., Schoormans, D., Mommersteeg, P. M. C., de Boer, R. A., Wilde, A. A. M., Asselbergs, F. W., Baas, A. F., van Tintelen, J. P., van den Heuvel, L. M., van Drie, E., Taal, S. E. L., Schmidt, A. F., Verstraelen, T. E., de Brouwer, R., Schoormans, D., Mommersteeg, P. M. C., de Boer, R. A., Wilde, A. A. M., Asselbergs, F. W., Baas, A. F., van Tintelen, J. P., and van den Heuvel, L. M.

Published
2024

19. Influence of stressful life events and personality traits on PLN cardiomyopathy severity: an exploratory study

Author

Cancer, Genetica Groep Van Tintelen, Genetica, Onderzoek Precision medicine, Team Medisch, Genetica Klinische Genetica, Circulatory Health, Child Health, van Drie, E, Taal, S E L, Schmidt, A F, Verstraelen, T E, de Brouwer, R, Schoormans, D, Mommersteeg, P M C, de Boer, R A, Wilde, A A M, Asselbergs, F W, Baas, A F, van Tintelen, J P, van den Heuvel, L M, Cancer, Genetica Groep Van Tintelen, Genetica, Onderzoek Precision medicine, Team Medisch, Genetica Klinische Genetica, Circulatory Health, Child Health, van Drie, E, Taal, S E L, Schmidt, A F, Verstraelen, T E, de Brouwer, R, Schoormans, D, Mommersteeg, P M C, de Boer, R A, Wilde, A A M, Asselbergs, F W, Baas, A F, van Tintelen, J P, and van den Heuvel, L M

Published
2024

20. ECG-only explainable deep learning algorithm predicts the risk for malignant ventricular arrhythmia in phospholamban cardiomyopathy.

Author

van de Leur, Rutger R., de Brouwer, Remco, Bleijendaal, Hidde, Verstraelen, Tom E., Mahmoud, Belend, Perez-Matos, Ana, Dickhoff, Cathelijne, Schoonderwoerd, Bas A., Germans, Tjeerd, Houweling, Arjan, van der Zwaag, Paul A., Cox, Moniek G.P.J., Peter van Tintelen, J., te Riele, Anneline S.J.M., van den Berg, Maarten P., Wilde, Arthur A.M., Doevendans, Pieter A., de Boer, Rudolf A., and van Es, René

Abstract

Phospholamban (PLN) p.(Arg14del) variant carriers are at risk for development of malignant ventricular arrhythmia (MVA). Accurate risk stratification allows timely implantation of intracardiac defibrillators and is currently performed with a multimodality prediction model. This study aimed to investigate whether an explainable deep learning–based approach allows risk prediction with only electrocardiogram (ECG) data. A total of 679 PLN p.(Arg14del) carriers without MVA at baseline were identified. A deep learning–based variational auto-encoder, trained on 1.1 million ECGs, was used to convert the 12-lead baseline ECG into its FactorECG, a compressed version of the ECG that summarizes it into 32 explainable factors. Prediction models were developed by Cox regression. The deep learning–based ECG-only approach was able to predict MVA with a C statistic of 0.79 (95% CI, 0.76–0.83), comparable to the current prediction model (C statistic, 0.83 [95% CI, 0.79–0.88]; P =.054) and outperforming a model based on conventional ECG parameters (low-voltage ECG and negative T waves; C statistic, 0.65 [95% CI, 0.58–0.73]; P <.001). Clinical simulations showed that a 2-step approach, with ECG-only screening followed by a full workup, resulted in 60% less additional diagnostics while outperforming the multimodal prediction model in all patients. A visualization tool was created to provide interactive visualizations (https://pln.ecgx.ai). Our deep learning–based algorithm based on ECG data only accurately predicts the occurrence of MVA in PLN p.(Arg14del) carriers, enabling more efficient stratification of patients who need additional diagnostic testing and follow-up. [Display omitted] [ABSTRACT FROM AUTHOR]

Published
2024
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26. Author Correction: The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy

Author

Eijgenraam, Tim R., Boukens, Bastiaan J., Boogerd, Cornelis J., Schouten, E. Marloes, van de Kolk, Cees W. A., Stege, Nienke M., te Rijdt, Wouter P., Hoorntje, Edgar T., van der Zwaag, Paul A., van Rooij, Eva, van Tintelen, J. Peter, van den Berg, Maarten P., van der Meer, Peter, van der Velden, Jolanda, Silljé, Herman H. W., and de Boer, Rudolf A.

Published
2020
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27. The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy

Author

Eijgenraam, Tim R., Boukens, Bastiaan J., Boogerd, Cornelis J., Schouten, E. Marloes, van de Kolk, Cees W. A., Stege, Nienke M., te Rijdt, Wouter P., Hoorntje, Edgar T., van der Zwaag, Paul A., van Rooij, Eva, van Tintelen, J. Peter, van den Berg, Maarten P., van der Meer, Peter, van der Velden, Jolanda, Silljé, Herman H. W., and de Boer, Rudolf A.

Published
2020
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31. Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity:an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers

Author

Jansen, Mark, Schmidt, A. F., Jans, J. J.M., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D.H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A.M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., Baas, A. F., Jansen, Mark, Schmidt, A. F., Jans, J. J.M., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D.H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A.M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., and Baas, A. F.

Abstract

Hypertrophic cardiomyopathy (HCM) is a relatively common genetic heart disease characterised by myocardial hypertrophy. HCM can cause outflow tract obstruction, sudden cardiac death and heart failure, but severity is highly variable. In this exploratory cross-sectional study, circulating acylcarnitines were assessed as potential biomarkers in 124 MYBPC3 founder variant carriers (59 with severe HCM, 26 with mild HCM and 39 phenotype-negative [G + P-]). Elastic net logistic regression identified eight acylcarnitines associated with HCM severity. C3, C4, C6-DC, C8:1, C16, C18 and C18:2 were significantly increased in severe HCM compared to G + P-, and C3, C6-DC, C8:1 and C18 in mild HCM compared to G + P-. In multivariable linear regression, C6-DC and C8:1 correlated to log-transformed maximum wall thickness (coefficient 5.01, p = 0.005 and coefficient 0.803, p = 0.007, respectively), and C6-DC to log-transformed ejection fraction (coefficient -2.50, p = 0.004). Acylcarnitines seem promising biomarkers for HCM severity, however prospective studies are required to determine their prognostic value. Graphical abstract: [Figure not available: see fulltext.].

Published
2023

32. Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers

Author

Onderzoek Precision medicine, Brain, Genetica Sectie Metabole Diagnostiek, Child Health, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Arts-assistenten Radiotherapie, Genetica Groep Van Tintelen, Cancer, Team Medisch, Genetica Klinische Genetica, Jansen, Mark, Schmidt, A F, Jans, J J M, Christiaans, I, van der Crabben, S N, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Lekanne Deprez, R H, Wilde, A A M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W, Baas, A F, Onderzoek Precision medicine, Brain, Genetica Sectie Metabole Diagnostiek, Child Health, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Arts-assistenten Radiotherapie, Genetica Groep Van Tintelen, Cancer, Team Medisch, Genetica Klinische Genetica, Jansen, Mark, Schmidt, A F, Jans, J J M, Christiaans, I, van der Crabben, S N, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Lekanne Deprez, R H, Wilde, A A M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W, and Baas, A F

Published
2023

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

Author

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., Wilde, Arthur A.M., editor, and van Tintelen, J. Peter, editor

Published
2014
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38. Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia*

Author

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., Wilde, Arthur A.M., editor, and van Tintelen, J. Peter, editor

Published
2014
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39. Penetrance and Prognosis of MYH7Variant-Associated Cardiomyopathies

Author

Jansen, Mark, de Brouwer, Remco, Hassanzada, Fahima, Schoemaker, Angela E., Schmidt, Amand F., Kooijman-Reumerman, Maria D., Bracun, Valentina, Slieker, Martijn G., Dooijes, Dennis, Vermeer, Alexa M.C., Wilde, Arthur A.M., Amin, Ahmad S., Lekanne Deprez, Ronald H., Herkert, Johanna C., Christiaans, Imke, de Boer, Rudolf A., Jongbloed, Jan D.H., van Tintelen, J. Peter, Asselbergs, Folkert W., and Baas, Annette F.

Abstract

MYH7variants cause hypertrophic cardiomyopathy (HCM), noncompaction cardiomyopathy (NCCM), and dilated cardiomyopathy (DCM). Screening of relatives of patients with genetic cardiomyopathy is recommended from 10 to 12 years of age onward, irrespective of the affected gene.

Published
2024
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40. Longitudinal validation of the phospholamban (PLN) p.Arg14del risk model

Author

Van Der Heide, M, primary, Verstraelen, T E, additional, Van Lint, F H M, additional, Bosman, L P, additional, De Brouwer, R, additional, Proost, V M, additional, Abeln, G S, additional, Schoonderwoerd, B A, additional, Houweling, A C, additional, Gimeno-Blanes, J R, additional, Asselbergs, F W, additional, De Boer, R A, additional, Van Den Berg, M P, additional, Van Tintelen, J P, additional, and Wilde, A A M, additional

Published
2022
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41. The effect of eplerenone on the disease onset and progression of phospholamban cardiomyopathy in presymptomatic mutation carriers: results of the i-PHORECAST trial

Author

De Brouwer, R, primary, Te Rijdt, W P, additional, Hoorntje, E T, additional, Karper, J C, additional, Westenbrink, B D, additional, Te Riele, A S J M, additional, Van Der Heijden, J F, additional, Amin, A, additional, Van Tintelen, J P, additional, Asselbergs, F W, additional, Wilde, A A M, additional, De Boer, R A, additional, and Van Den Berg, M P, additional

Published
2022
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42. Clinical Genetics

Author

van Tintelen, J. P., Marcelis, C., van Langen, I. M., Doevendans, P. A., editor, and Wilde, A. A. M., editor

Published
2001
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43. Abstract 20814: High Rate of Atrial Arrhythmias in Individuals With Truncating Titin Mutations Including the First Dilated Cardiomyopathy Related Titin Founder Mutation

Author

Hoorntje, Edgar T, van Spaendonck-Zwarts, Karin Y, te Rijdt, Wouter P, Boven, Ludolf, Vink, Aryan, van der Smagt, Jasper J, Asselbergs, Folkert W, van Wijngaarden, Jan, Hennekam, Eric A, Pinto, Yigal, Lekanne Deprez, Ronald H, Barge-Schaapveld, Daniela Q, Bootsma, Marianne, Regieli, Jakub, Hoedemaekers, Yvonne M, Jongbloed, Jan D, van den Berg, Maarten P, and van Tintelen, J. P

Published
2017

44. Abstract 18198: A Stepwise Approach Including Whole Exome Sequencing Targeting a Gene Panel for Paediatric Dilated Cardiomyopathy, Potentially Yields a Diagnosis in 50% of Patients

Author

Herkert, Johanna C, Abbott, Kristin M, Birnie, Erwin, Meems-Veldhuis, Martine T, Boven, Ludolf G, Benjamins, Maloes, du Marchie Sarvaas, Gideon J, Barge-Schaapveld, Daniela Q, van Tintelen, J. P, van der Zwaag, Paul A, Vos, Yvonne J, Sinke, Richard J, van den Berg, Maarten P, van Langen, Irene M, and Jongbloed, Jan D

Published
2017

45. A polymorphism in Histidine-Rich Calcium Binding Protein as second hit in Phospholamban Cardiomyopathy

Author

Conductiegroep, Genetica, Cancer, Onderzoek Precision medicine, Arts Assistenten Cardiologie, Circulatory Health, Team Medisch, Child Health, Van der Voorn, S. M., Dimitrova, K., Van Drie, E., Bourfiss, M., Taha, K., De Brouwer, R., Verstraelen, T. E., De Boer, R. A., Asselbergs, F. W., Van Tintelen, J. P., Van Veen, T. A. B., Conductiegroep, Genetica, Cancer, Onderzoek Precision medicine, Arts Assistenten Cardiologie, Circulatory Health, Team Medisch, Child Health, Van der Voorn, S. M., Dimitrova, K., Van Drie, E., Bourfiss, M., Taha, K., De Brouwer, R., Verstraelen, T. E., De Boer, R. A., Asselbergs, F. W., Van Tintelen, J. P., and Van Veen, T. A. B.

Published
2022

46. Rationale and design of the PHOspholamban RElated CArdiomyopathy intervention STudy (i-PHORECAST)

Author

Team Medisch, Circulatory Health, Research UMC Utrecht, Arts Assistenten Cardiologie, Genetica, te Rijdt, W. P., Hoorntje, E. T., de Brouwer, R., Oomen, A., Amin, A., van der Heijden, J. F., Karper, J. C., Westenbrink, B. D., Silljé, H. H.W., te Riele, A. S.J.M., Wiesfeld, A. C.P., van Gelder, I. C., Willems, T. P., van der Zwaag, P. A., van Tintelen, J. P., Hillege, J. H., Tan, H. L., van Veldhuisen, D. J., Asselbergs, F. W., de Boer, R. A., Wilde, A. A.M., van den Berg, M. P., Team Medisch, Circulatory Health, Research UMC Utrecht, Arts Assistenten Cardiologie, Genetica, te Rijdt, W. P., Hoorntje, E. T., de Brouwer, R., Oomen, A., Amin, A., van der Heijden, J. F., Karper, J. C., Westenbrink, B. D., Silljé, H. H.W., te Riele, A. S.J.M., Wiesfeld, A. C.P., van Gelder, I. C., Willems, T. P., van der Zwaag, P. A., van Tintelen, J. P., Hillege, J. H., Tan, H. L., van Veldhuisen, D. J., Asselbergs, F. W., de Boer, R. A., Wilde, A. A.M., and van den Berg, M. P.

Published
2022

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