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1Academic Journal
المؤلفون: Edgar T Hoorntje, Anna Posafalvi, Petros Syrris, K Joeri van der Velde, Marieke C Bolling, Alexandros Protonotarios, Ludolf G Boven, Nuria Amat-Codina, Judith A Groeneweg, Arthur A Wilde, Nara Sobreira, Hugh Calkins, Richard N W Hauer, Marcel F Jonkman, William J McKenna, Perry M Elliott, Richard J Sinke, Maarten P van den Berg, Stephen P Chelko, Cynthia A James, J Peter van Tintelen, Daniel P Judge, Jan D H Jongbloed
المصدر: PLoS ONE, Vol 13, Iss 8, p e0203078 (2018)
وصف الملف: electronic resource
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المؤلفون: Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha M. Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld-Huijssoon, Jelkje J. Boer-Bergsma, Pytrik Folkertsma, Tessa Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D. H. Jongbloed, Conny M. A. van Ravenswaaij-Arts, Richard Sinke, Birgit Sikkema-Raddatz, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Lude Franke
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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المؤلفون: Remco de Brouwer, Wouter P te Rijdt, Edgar T Hoorntje, Ahmad Amin, Folkert W Asselbergs, Moniek G P J Cox, Jeroen F van der Heijden, Hans Hillege, Jacco C Karper, Belend Mahmoud, Peter van der Meer, Anton Oomen, Anneline S J M te Riele, Herman H W Silljé, Hanno L Tan, Jan Peter van Tintelen, Dirk J van Veldhuisen, Berend Daan Westenbrink, Ans C P Wiesfeld, Tineke P Willems, Paul A van der Zwaag, Arthur A M Wilde, Rudolf A de Boer, Maarten P van den Berg
المصدر: European Heart Journal.
مصطلحات موضوعية: Cardiology and Cardiovascular Medicine
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المؤلفون: Edgar T. Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N. Parikh, Gerard J. te Meerman, Belinda Gray, Ahmet Adiyaman, Richard D. Bagnall, Daniela Q.C.M. Barge-Schaapveld, Maarten P. van den Berg, Marianne Bootsma, Laurens P. Bosman, Gemma Correnti, Johan Duflou, Ruben N. Eppinga, Diane Fatkin, Michael Fietz, Eric Haan, Jan D.H. Jongbloed, Arnaud D. Hauer, Lien Lam, Freyja H.M. van Lint, Amrit Lota, Carlo Marcelis, Hugh J. McCarthy, Anneke M. van Mil, Rogier A. Oldenburg, Nicholas Pachter, R. Nils Planken, Chloe Reuter, Christopher Semsarian, Jasper J. van der Smagt, Tina Thompson, Jitendra Vohra, Paul G.A. Volders, Jaap I. van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S. Amin, Arthur A.M. Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A. Ashley, Matthew T. Wheeler, James S. Ware, J. Peter van Tintelen, Jodie Ingles
المساهمون: Cardiovascular Centre (CVC), Human Genetics, Graduate School, ACS - Heart failure & arrhythmias, AII - Cancer immunology, Amsterdam Reproduction & Development (AR&D), Radiology and Nuclear Medicine, ACS - Pulmonary hypertension & thrombosis, ACS - Atherosclerosis & ischemic syndromes, Cardiology, Cardiologie, MUMC+: MA Med Staf Spec Cardiologie (9), RS: Carim - H04 Arrhythmogenesis and cardiogenetics, Clinical Genetics
المصدر: Circulation. Genomic and Precision Medicine, 16, 1
Circulation: Genomic and Precision Medicine, 16(1):E003672. LIPPINCOTT WILLIAMS & WILKINS
Circulation. Genomic and precision medicine, 16(1). Lippincott Williams and Wilkins Ltd.
Circulation: Genomic and Precision Medicine, 16(1), 69-79. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and Precision Medicine, 16
Circulation: Genomic and Precision Medicine, 16(1). Lippincott Williams & Wilkinsمصطلحات موضوعية: cardiomyopathies, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], sudden cardiac, death, death, sudden cardiac, primary, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], General Medicine, desmoplakins, genetic testing
وصف الملف: application/pdf
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المؤلفون: Edgar T, Hoorntje, Charlotte, Burns, Luisa, Marsili, Ben, Corden, Victoria N, Parikh, Gerard J, Te Meerman, Belinda, Gray, Ahmet, Adiyaman, Richard D, Bagnall, Daniela Q C M, Barge-Schaapveld, Maarten P, van den Berg, Marianne, Bootsma, Laurens P, Bosman, Gemma, Correnti, Johan, Duflou, Ruben N, Eppinga, Diane, Fatkin, Michael, Fietz, Eric, Haan, Jan D H, Jongbloed, Arnaud D, Hauer, Lien, Lam, Freyja H M, van Lint, Amrit, Lota, Carlo, Marcelis, Hugh J, McCarthy, Anneke M, van Mil, Rogier A, Oldenburg, Nicholas, Pachter, R Nils, Planken, Chloe, Reuter, Christopher, Semsarian, Jasper J, van der Smagt, Tina, Thompson, Jitendra, Vohra, Paul G A, Volders, Jaap I, van Waning, Nicola, Whiffin, Arthur, van den Wijngaard, Ahmad S, Amin, Arthur A M, Wilde, Gijs, van Woerden, Laura, Yeates, Dominica, Zentner, Euan A, Ashley, Matthew T, Wheeler, James S, Ware, J Peter, van Tintelen, Jodie, Ingles
المصدر: Circulation. Genomic and precision medicine.
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المؤلفون: Folkert W. Asselbergs, Hanno L. Tan, M.P. van den Berg, I. C. Van Gelder, J C Karper, Ans C.P. Wiesfeld, B D Westenbrink, P. A. van der Zwaag, J. H. Hillege, Herman H W Silljé, A Oomen, A. S. J. M. te Riele, W P Te Rijdt, R de Brouwer, Tineke P. Willems, J. P. van Tintelen, Ahmad S. Amin, J. F. van der Heijden, D. J. Van Veldhuisen, Edgar T. Hoorntje, R. A. De Boer, A. A. M. Wilde
المساهمون: Cardiology, ACS - Heart failure & arrhythmias, APH - Methodology, Cardiovascular Centre (CVC), Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Groningen Kidney Center (GKC), Life Course Epidemiology (LCE)
المصدر: Netherlands heart journal, 30(2), 84-95. Bohn Stafleu van Loghum
Netherlands Heart Journal
Netherlands Heart Hournal, 30. Bohn, Stafleu, Van Loghumمصطلحات موضوعية: medicine.medical_specialty, Design, Cardiomyopathy, 030204 cardiovascular system & hematology, CLASSIFICATION, DISEASE, Pre-emptive treatment, 03 medical and health sciences, QRS complex, 0302 clinical medicine, Internal medicine, medicine, Clinical endpoint, FIBROSIS, MUTATION, 030304 developmental biology, CARDIOLOGY, Phospholamban, 0303 health sciences, Ejection fraction, business.industry, STATEMENT, Intervention study, Dilated cardiomyopathy, Original Article – Study Design Article, Presymptomatic carriers, medicine.disease, 3. Good health, Eplerenone, INSIGHTS, Heart failure, Cardiology, SURVIVAL, cardiovascular system, HEART-FAILURE, Cardiology and Cardiovascular Medicine, business, medicine.drug
وصف الملف: application/pdf
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المؤلفون: Jasper J. van der Smagt, Gemma Correnti, Diane Fatkin, E. Haan, Paul G.A. Volders, Jodie Ingles, Euan A. Ashley, Nicola Whiffin, Laura Yeates, Daniela Q.C.M. Barge-Schaapveld, Nicholas Pachter, Jan D. H. Jongbloed, Jaap I. van Waning, Arthur van den Wijngaard, Ahmet Adiyaman, Belinda Gray, Ben Corden, Victoria N. Parikh, Chloe M. Reuter, Amrit Lota, Maarten P. van den Berg, Johan Duflou, Luisa Marsili, Freyja H.M. van Lint, Ahmad S. Amin, Matthew T. Wheeler, Christopher Semsarian, Charlotte Burns, James S. Ware, Michael Fietz, Marianne Bootsma, Carlo Marcelis, Jitendra K. Vohra, Rogier A. Oldenburg, Dominica Zentner, Arthur A.M. Wilde, Laurens P Bosman, Arnaud D. Hauer, Gijs van Woerden, J. Peter van Tintelen, Edgar T. Hoorntje, R. Nils Planken, Richard D. Bagnall, Anneke M. van Mil, Gerard J. te Meerman, Hugh J. McCarthy, Ruben N. Eppinga, T. Thompson, Lien Lam
مصطلحات موضوعية: Proband, medicine.medical_specialty, biology, business.industry, Desmoplakin, medicine.medical_treatment, Cardiomyopathy, Sudden cardiac arrest, medicine.disease, Implantable cardioverter-defibrillator, Internal medicine, Cohort, biology.protein, Cardiology, Medicine, Family history, Risk factor, medicine.symptom, business
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المؤلفون: Paul M.L. Janssen, Jeff S. Healey, Nara Sobriera, Hugh Calkins, Samantha L. Simmons, Sharon L. Graw, Peter J. Mohler, Mona El-Refaey, Robert W. Davies, Brittney Murray, Danna A. Spears, Kirti Mittal, Duy T. Nguyen, Jason D. Roberts, Crystal Tichnell, Maarten P. van den Berg, J. Peter van Tintelen, Nathaniel P. Murphy, Sara N. Koenig, Daniel P. Judge, Philip C. Ursell, Meriam Åström Aneq, Mei Han, Crystal F. Kline, Robert A. Hegele, Anna Gréen, Luisa Mestroni, Andrew D. Krahn, Robert M. Hamilton, Amy C. Sturm, Arthur A.M. Wilde, Babak Nazer, Frank I. Marcus, Gianfranco Sinagra, Michael H. Gollob, Alberto Codima, David A. Chiasson, Chantal J. M. van Opbergen, Matthew R.G. Taylor, Shabana Aafaqi, Cynthia A. James, Edgar T. Hoorntje, Martin J. Gardner, Tamara T. Koopmann, Ellen R. Lubbers, Meena Fatah, Anthony Tang, Hassan Musa, Muhammad Rafiq, Loren E. Wold, Allan C. Skanes, Thomas J. Hund, John F. Robinson, Melvin M. Scheinman, Elisabeth M. Lodder, Toon A.B. van Veen
المساهمون: Roberts, J. D., Murphy, N. P., Hamilton, R. M., Lubbers, E. R., James, C. A., Kline, C. F., Gollob, M. H., Krahn, A. D., Sturm, A. C., Musa, H., El-Refaey, M., Koenig, S., Aneq, M. A., Hoorntje, E. T., Graw, S. L., Davies, R. W., Rafiq, M. A., Koopmann, T. T., Aafaqi, S., Fatah, M., Chiasson, D. A., Taylor, M. R. G., Simmons, S. L., Han, M., Van Opbergen, C. J. M., Wold, L. E., Sinagra, G., Mittal, K., Tichnell, C., Murray, B., Codima, A., Nazer, B., Nguyen, D. T., Marcus, F. I., Sobriera, N., Lodder, E. M., Van Den Berg, M. P., Spears, D. A., Robinson, J. F., Ursell, P. C., Green, A. K., Skanes, A. C., Tang, A. S., Gardner, M. J., Hegele, R. A., Van Veen, T. A. B., Wilde, A. A. M., Healey, J. S., Janssen, P. M. L., Mestroni, L., Van Tintelen, J. P., Calkins, H., Judge, D. P., Hund, T. J., Scheinman, M. M., Mohler, P. J., Cardiovascular Centre (CVC), Cardiology, Human Genetics, ACS - Heart failure & arrhythmias
المصدر: Journal of Clinical Investigation, 129(8), 3171. The American Society for Clinical Investigation
The Journal of Clinical Investigation, 129(8), 3171-3184. AMER SOC CLINICAL INVESTIGATION INC
Journal of clinical investigation, 130, 3171-3184. The American Society for Clinical Investigation
The Journal of clinical investigation, vol 129, iss 8مصطلحات موضوعية: Male, 0301 basic medicine, Indoles, Cardiac fibrosis, Cell- och molekylärbiologi, Cardiomyopathy, Arrhythmias, Cardiovascular, Medical and Health Sciences, Sudden cardiac death, Maleimides, Mice, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, Wnt Signaling Pathway, Arrhythmogenic Right Ventricular Dysplasia, beta Catenin, Mice, Knockout, Ejection fraction, Cardiology, Cardiovascular disease, Cell Biology, Genetic diseases, Wnt signaling pathway, General Medicine, Phenotype, 3. Good health, Heart Disease, 030220 oncology & carcinogenesis, Female, Arrhythmia, Research Article, Ankyrins, Knockout, Immunology, 03 medical and health sciences, Rare Diseases, Clinical Research, ANK2, Journal Article, medicine, Animals, Humans, Loss function, Animal, business.industry, Myocardium, medicine.disease, Disease Models, Animal, 030104 developmental biology, Disease Models, Cancer research, business, Cell and Molecular Biology
وصف الملف: image/pdf; application/pdf
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المؤلفون: Antonio de Marvao, Roddy Walsh, Jean-Claude Tardif, R. Thomas Lumbers, Eric Villard, Rafik Tadros, Peter Lichtner, Catherine Francis, Julie Amyot, Michelle Michels, Hugh Watkins, Julia Cadrin-Tourigny, Najim Lahrouchi, Rudolf A. de Boer, Patrick Garceau, Karin J. H. Verweij, Paul M. Matthews, Paul Elliott, S. Matthijs Boekholdt, Folkert W. Asselbergs, Declan P. O'Regan, Benjamin Meder, Joost A. Offerhaus, Nicola Whiffin, Jacco C. Karper, Jason D. Roberts, Marie-Pierre Dubé, Hideaki Suzuki, James S. Ware, Yigal M. Pinto, Thomas Meitinger, Guillaume Lettre, Hannah G. van Velzen, Arthur A.M. Wilde, Marjon van Slegtenhorst, Francesco Mazzarotto, Wouter P. te Rijdt, Paul J.R. Barton, Sanjay K Prasad, A. John Baksi, Michael W.T. Tanck, Mario Talajic, Roy Huurman, J. Peter van Tintelen, Connie R. Bezzina, Antonis Pantazis, Robert A. Hegele, Jentien M Vermeulen, Rachel Buchan, Imke Christiaans, Jan H. Veldink, Edgar T. Hoorntje, Elham Kayvanpour, Pascale Richard, Geneviève Giraldeau, Flavie Ader, Andrew Thain, Philippe L. L’Allier, Xiao Xu, Leander Beekman, David McCarty, Alexa M.C. Vermeer, Geraldine Sloane, Wenjia Bai, Andrew R. Harper, Jolanda van der Velden, Stuart A. Cook, Ken Kelu Bisabu, Philippe Charron, Deborah Schneider-Luftman
المساهمون: Human Genetics, ACS - Heart failure & arrhythmias, Cardiology, Adult Psychiatry, APH - Mental Health, ANS - Complex Trait Genetics, ANS - Compulsivity, Impulsivity & Attention, ANS - Mood, Anxiety, Psychosis, Stress & Sleep, ACS - Amsterdam Cardiovascular Sciences, Epidemiology and Data Science, APH - Methodology, ACS - Atherosclerosis & ischemic syndromes, Human genetics, Physiology, Cardiovascular Centre (CVC), Clinical Genetics, Wellcome Trust, Department of Health, British Heart Foundation, Engineering & Physical Science Research Council (EPSRC), UK DRI Ltd, The Academy of Medical Sciences, Imperial College Healthcare NHS Trust- BRC Funding
المصدر: Nature genetics, 53(2), 128-134. Nature Publishing Group
Nature genetics
Tadros, R, Francis, C, Xu, X, Vermeer, A M C, Harper, A R, Huurman, R, Kelu Bisabu, K, Walsh, R, Hoorntje, E T, te Rijdt, W P, Buchan, R J, van Velzen, H G, van Slegtenhorst, M A, Vermeulen, J M, Offerhaus, J A, Bai, W, de Marvao, A, Lahrouchi, N, Beekman, L, Karper, J C, Veldink, J H, Kayvanpour, E, Pantazis, A, Baksi, A J, Whiffin, N, Mazzarotto, F, Sloane, G, Suzuki, H, Schneider-Luftman, D, Elliott, P, Richard, P, Ader, F, Villard, E, Lichtner, P, Meitinger, T, Tanck, M W T, van Tintelen, J P, Thain, A, McCarty, D, Hegele, R A, Roberts, J D, Amyot, J, Dubé, M-P, Cadrin-Tourigny, J, Giraldeau, G, l’Allier, P L, Garceau, P, Tardif, J-C, Boekholdt, S M, Lumbers, R T, Asselbergs, F W, Barton, P J R, Cook, S A, Prasad, S K, O’Regan, D P, van der Velden, J, Verweij, K J H, Talajic, M, Lettre, G, Pinto, Y M, Meder, B, Charron, P, de Boer, R A, Christiaans, I, Michels, M, Wilde, A A M, Watkins, H, Matthews, P M, Ware, J S & Bezzina, C R 2021, ' Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect ', Nature Genetics, vol. 53, no. 2, pp. 128-134 . https://doi.org/10.1038/s41588-020-00762-2
Nature Genetics, 53(2), 128-134. Nature Publishing Groupمصطلحات موضوعية: Linkage disequilibrium, Cardiomyopathy, Dilated/genetics, Left, Cardiomyopathy, Genome-wide association study, Kaplan-Meier Estimate, VARIANTS, Ventricular Function, Left, Linkage Disequilibrium, 0302 clinical medicine, Gene Frequency, Dilated, Ventricular Function, 11 Medical and Health Sciences, Cardiomyopathy, Hypertrophic/genetics, Genetics & Heredity, 0303 health sciences, HERITABILITY, Single Nucleotide, MENDELIAN RANDOMIZATION, Cardiology, cardiovascular system, HEART, Life Sciences & Biomedicine, Ventricular Function, Left/genetics, Cardiomyopathy, Dilated, medicine.medical_specialty, Heart Ventricles, Quantitative Trait Loci, Biology, Quantitative trait locus, Sudden death, Polymorphism, Single Nucleotide, Article, Heart Ventricles/physiopathology, 03 medical and health sciences, Internal medicine, Mendelian randomization, Genetics, medicine, Humans, Genetic Predisposition to Disease, cardiovascular diseases, GENOME-WIDE ASSOCIATION, Polymorphism, 030304 developmental biology, Genetic association, Science & Technology, Hypertrophic/genetics, Left/genetics, Case-control study, CONTRACTILITY, 06 Biological Sciences, Cardiomyopathy, Hypertrophic, medicine.disease, Hypertrophic, Dilated/genetics, Case-Control Studies, Genome-Wide Association Study, 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf
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المؤلفون: Christopher Semsarian, Peter J. Schwartz, J. Peter van Tintelen, Robert M. Hamilton, Cristina Basso, Eric Schulze-Bahr, Jiang Ping Song, Richard N.W. Hauer, Elijah R. Behr, Edgar T. Hoorntje, Bongani M. Mayosi, Michael J. Ackerman, Vincent Probst, Lia Crotti, Hugh Calkins, Daniel P. Judge, Cynthia A. James, Jean-Jacques Schott, Brittney Murray, Alice Ghidoni, Kirti Mittal, Perry M. Elliott, Gianfranco Parati, Davide Gentilini, Maria Christina Kotta, Julien Barc, Petros Syrris
المساهمون: Ghidoni, A, Elliott, P, Syrris, P, Calkins, H, James, C, Judge, D, Murray, B, Barc, J, Probst, V, Schott, J, Song, J, Hauer, R, Hoorntje, E, Van Tintelen, J, Schulze-Bahr, E, Hamilton, R, Mittal, K, Semsarian, C, Behr, E, Ackerman, M, Basso, C, Parati, G, Gentilini, D, Kotta, M, Mayosi, B, Schwartz, P, Crotti, L, Cardiovascular Centre (CVC)
المصدر: Circ Genom Precis Med
Circulation-Genomic and precision medicine, 14(2), 159-169. LIPPINCOTT WILLIAMS & WILKINSمصطلحات موضوعية: 0301 basic medicine, Tachycardia, Adult, Male, medicine.medical_specialty, Adolescent, Cardiomyopathy, Disease, 030204 cardiovascular system & hematology, tachycardia, sudden cardiac death, Sudden cardiac death, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Gene Frequency, Protein Domains, cadherins, cardiomyopathy, mutation, Internal medicine, medicine, Prevalence, Humans, Arrhythmogenic Right Ventricular Dysplasia, Cadherin, business.industry, Genetic Variation, General Medicine, Original Articles, Middle Aged, medicine.disease, Pedigree, 030104 developmental biology, medicine.anatomical_structure, cadherin, Ventricle, Mutation (genetic algorithm), Cardiology, Female, medicine.symptom, business
وصف الملف: application/pdf
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المؤلفون: Bastiaan J. Boukens, Herman H. W. Silljé, Cees W A van de Kolk, E Marloes Schouten, Eva van Rooij, Rudolf A. de Boer, Paul A. van der Zwaag, Maarten P. van den Berg, Tim R Eijgenraam, Edgar T. Hoorntje, Peter van der Meer, Cornelis J. Boogerd, Nienke M Stege, J. Peter van Tintelen, Jolanda van der Velden, Wouter P. te Rijdt
المساهمون: Medical Biology, ACS - Heart failure & arrhythmias, ACS - Amsterdam Cardiovascular Sciences, Cardiovascular Centre (CVC), Restoring Organ Function by Means of Regenerative Medicine (REGENERATE), Physiology, Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: Scientific reports, 10(1):9819. Nature Publishing Group
Scientific Reports
Scientific Reports, 10(1):9819. Nature Publishing Group
Eijgenraam, T R, Boukens, B J, Boogerd, C J, Schouten, E M, van de Kolk, C W A, Stege, N M, te Rijdt, W P, Hoorntje, E T, van der Zwaag, P A, van Rooij, E, van Tintelen, J P, van den Berg, M P, van der Meer, P, van der Velden, J, Silljé, H H W & de Boer, R A 2020, ' The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy ', Scientific Reports, vol. 10, no. 1, 9819 . https://doi.org/10.1038/s41598-020-66656-9
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports, 10(1). Nature Publishing Groupمصطلحات موضوعية: 0301 basic medicine, medicine.medical_treatment, Cardiomyopathy, lcsh:Medicine, 030204 cardiovascular system & hematology, CARDIOMYOCYTES, ACTIVATION, PROTECTS, Mice, 0302 clinical medicine, Metoprolol/pharmacology, Treatment Failure, ESC GUIDELINES, lcsh:Science, CARDIAC-HYPERTROPHY, PROTEASOME, Metoprolol, Heart transplantation, Multidisciplinary, 3. Good health, Phospholamban, Eplerenone, Phenotype, Heart Failure/complications, Cardiology, Cardiomyopathies/complications, Cardiomyopathies, medicine.drug, Risk, Cardiac function curve, medicine.medical_specialty, endocrine system, SERCA, INHIBITION, Article, 03 medical and health sciences, Medical research, Internal medicine, medicine, Animals, P.ARG14DEL MUTATION, Author Correction, Heart Failure, Calcium-Binding Proteins/genetics, business.industry, Eplerenone/pharmacology, Calcium-Binding Proteins, lcsh:R, medicine.disease, GENE, DYSFUNCTION, 030104 developmental biology, Heart failure, Mutation, lcsh:Q, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb981ce7c18f8ddb3264d473f4b690a1
https://pure.amc.nl/en/publications/the-phospholamban-parg14del-pathogenic-variant-leads-to-cardiomyopathy-with-heart-failure-and-is-unreponsive-to-standard-heart-failure-therapy(214e30fb-af4c-4479-8018-803f473cd834).html -
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المؤلفون: Ingrid A.W. van Rijsingen, Edgar T. Hoorntje, Yigal M. Pinto, Francesco Russo, Joeri A. Jansweijer, Alex V. Postma, Rudolf A. de Boer, Ronald H. Lekanne Deprez, Jan D. H. Jongbloed, Arthur A.M. Wilde, Elena Biagini, Paul L. van Haelst, Maarten P. van den Berg, Marieke Bronk, J. Peter van Tintelen, Simone de Haij, Jan van Wijngaarden, Karin Y. van Spaendonck-Zwarts, Karin Nieuwhof, Marcel M.A.M. Mannens
المصدر: European Journal of Heart Failure. 19:512-521
مصطلحات موضوعية: Heart transplantation, Proband, medicine.medical_specialty, Ejection fraction, biology, business.industry, medicine.medical_treatment, Hazard ratio, Dilated cardiomyopathy, 030204 cardiovascular system & hematology, medicine.disease, LMNA, 03 medical and health sciences, 0302 clinical medicine, Heart failure, Internal medicine, medicine, Cardiology, biology.protein, Titin, cardiovascular diseases, 030212 general & internal medicine, Cardiology and Cardiovascular Medicine, business
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المؤلفون: Eva van Rooij, Paul A. van der Zwaag, Edgar T. Hoorntje, Maarten P. van den Berg, Cees W A van de Kolk, Wouter P. te Rijdt, Herman H. W. Silljé, J. Peter van Tintelen, Tim R Eijgenraam, Cornelis J. Boogerd, Jolanda van der Velden, E Marloes Schouten, Nienke M Stege, Rudolf A. de Boer, Peter van der Meer, Bastiaan J. Boukens
المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research, Fryske Akademy (FA)
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-1 (2020)
Scientific Reports, 10(1). Nature Publishing Groupمصطلحات موضوعية: medicine.medical_specialty, Multidisciplinary, business.industry, Published Erratum, lcsh:R, Cardiomyopathy, lcsh:Medicine, medicine.disease, Phospholamban, Heart failure, Internal medicine, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Cardiology, Medicine, lcsh:Q, business, lcsh:Science, Typographical error
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المؤلفون: Edgar T. Hoorntje, Rudolf A. de Boer, Jan D. H. Jongbloed, Wouter P. te Rijdt, Jeffrey E. Saffitz, J. Peter van Tintelen, Albert J. H. Suurmeijer, Maarten P. van den Berg, Angeliki Asimaki, Paul A. van der Zwaag, Elisabetta Lazzarini
المساهمون: Cardiovascular Centre (CVC), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Human Genetics, ACS - Heart failure & arrhythmias
المصدر: Cardiovascular Pathology, 40, 2-6. ELSEVIER SCIENCE INC
Cardiovascular pathology, 40, 2-6. Elsevier Inc.مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Arrhythmogenic cardiomyopathy, Immunofluorescence, Cardiomyopathy, Dilated cardiomyopathy, 030204 cardiovascular system & hematology, VARIANTS, medicine.disease_cause, GUIDELINES, Sarcomere, 0302 clinical medicine, Risk Factors, Registries, MUTATION, Arrhythmogenic Right Ventricular Dysplasia, Sequence Deletion, Mutation, biology, Desmosomes, General Medicine, Middle Aged, Prognosis, CARRIERS, Phospholamban, Phenotype, Adipose Tissue, Female, Cardiology and Cardiovascular Medicine, Adult, Cardiomyopathy, Dilated, Genetic Markers, medicine.medical_specialty, Plakoglobin, Right ventricular cardiomyopathy, Pathology and Forensic Medicine, 03 medical and health sciences, VENTRICULAR CARDIOMYOPATHY, medicine, Humans, Genetic Predisposition to Disease, Glycogen synthase, Aged, Tight Junction Proteins, Myocardium, Calcium-Binding Proteins, medicine.disease, Fibrosis, 030104 developmental biology, biology.protein, Next-generation sequencing
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المؤلفون: Marja W. Wessels, Arjan C. Houweling, Maarten P. van den Berg, M.D. Jansen, Ronald H. Lekanne Deprez, Folkert W. Asselbergs, Eric A. M. Hennekam, Paula J T M Helderman-van den Enden, Michelle Michels, Arthur van den Wijngaard, Marjon van Slegtenhorst, Annette F. Baas, Hans Kristian Ploos van Amstel, Daniela Q.C.M. Barge-Schaapveld, Karin Y. van Spaendonck-Zwarts, J. Peter van Tintelen, Amber Ummels, Dennis Dooijes, Arthur A.M. Wilde, Eric J.G. Sijbrands, Edgar T. Hoorntje, Jan D. H. Jongbloed
المساهمون: ACS - Pulmonary hypertension & thrombosis, Human Genetics, Cardiology, ACS - Heart failure & arrhythmias, Cardiovascular Centre (CVC), ACS - Atherosclerosis & ischemic syndromes, MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Clinical Genetics, Internal Medicine
المصدر: Circulation. Genomic and precision medicine, 12(5). Lippincott Williams and Wilkins Ltd.
Circ Genom Precis Med, 12(5), e002436. Lippincott Williams and Wilkins Ltd.
European Journal of Human Genetics, 27, 145-146. Nature Publishing Group
Circulation: Genomic and Precision Medicine, 12(5):002436. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and precision medicine, 12(5):002436. LIPPINCOTT WILLIAMS & WILKINS
Circulation-Genomic and Precision Medicine, 12(5):e002436. Lippincott Williams & Wilkinsمصطلحات موضوعية: 0301 basic medicine, Proband, Male, cardiomyopathy, dilated, Cardiomyopathy, 030204 cardiovascular system & hematology, VARIANTS, History, 18th Century, 0302 clinical medicine, Databases, Genetic, Connectin, Netherlands, education.field_of_study, Dilated cardiomyopathy, History, 19th Century, General Medicine, Middle Aged, Founder Effect, Pedigree, Natural history, natural history, symbols, HEART-FAILURE, Female, dilated, FORM, Adult, medicine.medical_specialty, GENETICS, Population, History, 21st Century, Polymorphism, Single Nucleotide, 03 medical and health sciences, symbols.namesake, Internal medicine, medicine, Journal Article, Humans, titin, Poisson regression, education, business.industry, Genetic Variation, History, 20th Century, medicine.disease, DILATED CARDIOMYOPATHY, mortality, LONG, 030104 developmental biology, Standardized mortality ratio, mutation, business, Asymptomatic carrier, cardiomyopathy
وصف الملف: image/pdf; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d0f8a4d3fb25611e43df28c974c751c
https://pure.amc.nl/en/publications/mortality-risk-associated-with-truncating-founder-mutations-in-titin(fe33b1ba-5236-49a9-b632-3541cdaea329).html -
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المؤلفون: Harikrishna Tandri, Laurens P Bosman, David L. Prior, Cynthia A. James, Michael D. Flannery, Hugh Calkins, Anneline S.J.M. te Riele, Edgar T. Hoorntje, Crystal Tichnell, Maarten P. van den Berg, Andre La Gerche, Richard N.W. Hauer, Brittney Murray, Maria J. Brosnan, Jon M. Kalman
المساهمون: Cardiovascular Centre (CVC)
المصدر: JACC: Clinical Electrophysiology, 4(12), 1613. Elsevier USA
JACC. Clinical electrophysiology, 4(12), 1613-1625. Elsevierمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Athlete's heart, 030204 cardiovascular system & hematology, Right ventricular cardiomyopathy, Cohort Studies, Electrocardiography, Young Adult, 03 medical and health sciences, 0302 clinical medicine, T wave, Internal medicine, Physiology (medical), medicine, Humans, pre-participation screening, cardiovascular diseases, 030212 general & internal medicine, Young adult, T-wave inversion, Arrhythmogenic Right Ventricular Dysplasia, arrhythmogenic right ventricular cardiomyopathy, medicine.diagnostic_test, business.industry, ECG, Heart, medicine.disease, Arrhythmogenic right ventricular dysplasia, cardiovascular system, Cardiology, Female, athlete, business, Cardiology and Cardiovascular Medicine, Cohort study
وصف الملف: image/pdf
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المؤلفون: Sabrina Z. Jan, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Pytrik Folkertsma, Peter C. van den Akker, K. Joeri van der Velde, Roan Kanninga, Johanna C. Herkert, Jan D. H. Jongbloed, Edgar T. Hoorntje, Richard J. Sinke, Lude Franke, Patrick Deelen, Erica H. Gerkes, Harm Brugge, Yvonne J. Vos, Sipko van Dam, Kristin M. Abbott, Tessa Gillett, Birgit Sikkema-Raddatz, Conny M. A. van Ravenswaaij-Arts, Cleo C. van Diemen, Paul A. van der Zwaag, Juha Karjalainen, Wouter P. te Rijdt
مصطلحات موضوعية: 0303 health sciences, Candidate gene, Causative gene, Computational biology, Biology, Phenotype, DNA sequencing, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Gene expression, Gene, Exome, 030217 neurology & neurosurgery, Exome sequencing, 030304 developmental biology
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المؤلفون: Cynthia A. James, Dennis Dooijes, Jeroen F. van der Heijden, Edgar T. Hoorntje, Harikrishna Tandri, Jan D. H. Jongbloed, Daniel P. Judge, Hugh Calkins, Richard N.W. Hauer, Arthur A.M. Wilde, Anneline S.J.M. te Riele, J. Peter van Tintelen, Crystal Tichnell, Maarten P. van den Berg, Brittney Murray
المساهمون: Cardiovascular Centre (CVC), Cardiology, ACS - Heart failure & arrhythmias, Human Genetics, ACS - Pulmonary hypertension & thrombosis
المصدر: Journal of Cardiovascular Electrophysiology, 29(7), 1004. Wiley-Blackwell
Journal of Cardiovascular Electrophysiology, 29(7), 1004-1009. Wiley
Journal of cardiovascular electrophysiology, 29(7), 1004-1009. Wiley-Blackwell
Journal of Cardiovascular Electrophysiologyمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Sarcomeres, Adolescent, TNNT2, Population, Cardiomyopathy, 030204 cardiovascular system & hematology, Sudden death, Right ventricular cardiomyopathy, Cohort Studies, 03 medical and health sciences, Clinical, 0302 clinical medicine, Physiology (medical), medicine, ARVC, Humans, genetics, Registries, whole-exome sequencing, education, Arrhythmogenic Right Ventricular Dysplasia, Genetics, education.field_of_study, business.industry, ACTC1, Hypertrophic cardiomyopathy, Genetic Variation, Original Articles, Middle Aged, medicine.disease, 3. Good health, Pedigree, 030104 developmental biology, MYH7, Female, Original Article, whole‐exome sequencing, sarcomere, business, Cardiology and Cardiovascular Medicine, cardiomyopathy
وصف الملف: image/pdf; application/pdf
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المؤلفون: Yvonne M. Hoedemaekers, Eric A. M. Hennekam, Jan van Wijngaarden, Ludolf G. Boven, Jan D. H. Jongbloed, Aryan Vink, Yigal M. Pinto, Edgar T. Hoorntje, Maarten P. van den Berg, Karin Y. van Spaendonck-Zwarts, Jakub J. Regieli, J. Peter van Tintelen, Daniela Q.C.M. Barge-Schaapveld, Folkert W. Asselbergs, Wouter P. te Rijdt, Marianne Bootsma, Jasper J. van der Smagt, Ronald H. Lekanne Deprez
المساهمون: Cardiovascular Centre (CVC), Human Genetics, ACS - Amsterdam Cardiovascular Sciences, Cardiology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Other Research, Other departments, ACS - Heart failure & arrhythmias, ACS - Pulmonary hypertension & thrombosis
المصدر: European Journal of Heart Failure, 20(4), 803
European Journal of Heart Failure, 20(4), 803-806. Wiley
European journal of heart failure, 20(4), 803-806. Wiley-Blackwellمصطلحات موضوعية: 0301 basic medicine, Cardiomyopathy, Dilated, Male, Letter, DNA Mutational Analysis, Cardiomyopathy, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Dna genetics, medicine, Humans, Connectin, Founder mutation, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics, biology, business.industry, Dilated cardiomyopathy, DNA, Middle Aged, medicine.disease, Pedigree, 030104 developmental biology, Mutation (genetic algorithm), Mutation, biology.protein, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Titin, Female, Cardiology and Cardiovascular Medicine, business
وصف الملف: application/pdf
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المؤلفون: Carlo Marcelis, Emmelien Aten, Arthur A.M. Wilde, Peter C. van den Akker, Jos L. V. Broers, Joeri A. Jansweijer, Karin Y. van Spaendonck-Zwarts, Rogier A. Oldenburg, Paul G.A. Volders, Aryan Vink, Edgar T. Hoorntje, Maarten P. van den Berg, Florence H J van Tienen, Jasper J. van der Smagt, Ilse A. E. Bollen, Jolanda van der Velden, Daniela Q.C.M. Barge-Schaapveld, Anthonie J. van Essen, Eric A. M. Hennekam, Alina Constantinescu, Arthur van den Wijngaard, J. Peter van Tintelen, Gerard J. te Meerman, Marianne Bootsma, Jan D. H. Jongbloed
المساهمون: Translational Immunology Groningen (TRIGR), Cardiovascular Centre (CVC), MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: MA Med Staf Spec Cardiologie (9), RS: CARIM - R2.04 - Arrhythmogenisis and cardiogenetics, Cardiologie, Moleculaire Celbiologie, RS: GROW - R2 - Basic and Translational Cancer Biology, RS: CARIM - R2.10 - Mitochondrial disease, Physiology, ACS - Heart failure & arrhythmias, Cardiology, Graduate School, Other departments, Amsterdam Cardiovascular Sciences, Human Genetics, ACS - Pulmonary hypertension & thrombosis, Clinical Genetics
المصدر: Circulation. Cardiovascular Genetics, 10, 4, pp. UNSP e001631-UNSP e001631
Circulation-Cardiovascular Genetics, 10(4):001631. LIPPINCOTT WILLIAMS & WILKINS
Circulation-Cardiovascular genetics, 10(4). Lippincott Williams and Wilkins
Circulation. Cardiovascular Genetics, 10, UNSP e001631-UNSP e001631
Circulation : Cardiovascular Genetics, 10(4):001631. LIPPINCOTT WILLIAMS & WILKINS
Circulation-cardiovascular genetics, 10(4):e001631. Lippincott Williams and Wilkins
Hoorntje, E T, Bollen, I A, Barge-Schaapveld, D Q, van Tienen, F H J, te Meerman, G J, Jansweijer, J A, van Essen, A J, Volders, P G, Constantinescu, A A, van den Akker, P C, van Spaendonck-Zwarts, K Y, Oldenburg, R A, Marcelis, C L, van der Smagt, J J, Hennekam, E A, Vink, A, Bootsma, M, Aten, E, Wilde, A A M, van den Wijngaard, A, Broers, J L, Jongbloed, J D, van der Velden, J, van den Berg, M P & van Tintelen, J P 2017, ' Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation ', Circulation-cardiovascular genetics, vol. 10, no. 4, e001631 . https://doi.org/10.1161/CIRCGENETICS.116.001631
Circulation. Cardiovascular genetics, 10(4):e001631. Lippincott Williams and Wilkins
Circulation: Cardiovascular Genetics, 10(4)
Circulation-cardiovascular genetics, 10(4):UNSP e001631. Lippincott Williams & Wilkinsمصطلحات موضوعية: RIGHT-VENTRICULAR CARDIOMYOPATHY, MISSENSE MUTATIONS, 0301 basic medicine, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, lipodystrophy, cardiomyopathy, dilated, Cardiomyopathy, 030204 cardiovascular system & hematology, Gene mutation, Biology, Sudden death, survival, 324 UNRELATED PATIENTS, LMNA, 03 medical and health sciences, SUDDEN-DEATH, 0302 clinical medicine, ATRIOVENTRICULAR-BLOCK, Idiopathic dilated cardiomyopathy, atrioventricular block, Genetics, medicine, Journal Article, Missense mutation, atrial fibrillation, SCN5A, Genetics (clinical), integumentary system, Haplotype, medicine.disease, HIGH-RISK, 030104 developmental biology, IDIOPATHIC DILATED CARDIOMYOPATHY, Cardiology and Cardiovascular Medicine, LMNA CAUSES, cardiomyopathy, dilated, GENE-MUTATIONS, Lamin, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: application/pdf; image/pdf
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