Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Hanneke W. M. van Deutekom"'
Autor:
Julia E. Niskanen, Åsa Ohlsson, Ingrid Ljungvall, Michaela Drögemüller, Robert F. Ernst, Dennis Dooijes, Hanneke W. M. van Deutekom, J. Peter van Tintelen, Christian J. B. Snijders Blok, Marion van Vugt, Jessica van Setten, Folkert W. Asselbergs, Aleksandra Domanjko Petrič, Milla Salonen, Sruthi Hundi, Matthias Hörtenhuber, DoGA consortium, Juha Kere, W. Glen Pyle, Jonas Donner, Alex V. Postma, Tosso Leeb, Göran Andersson, Marjo K. Hytönen, Jens Häggström, Maria Wiberg, Jana Friederich, Jenny Eberhard, Magdalena Harakalova, Frank G. van Steenbeek, Gerhard Wess, Hannes Lohi
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-21 (2023)
Abstract Background Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases have a genetic etiolog
Externí odkaz:
https://doaj.org/article/49a1dbcf15a6421cbf422ecc2a464ea9
Autor:
K. Joeri van der Velde, Gurnoor Singh, Rajaram Kaliyaperumal, XiaoFeng Liao, Sander de Ridder, Susanne Rebers, Hindrik H. D. Kerstens, Fernanda de Andrade, Jeroen van Reeuwijk, Fini E. De Gruyter, Saskia Hiltemann, Maarten Ligtvoet, Marjan M. Weiss, Hanneke W. M. van Deutekom, Anne M. L. Jansen, Andrew P. Stubbs, Lisenka E. L. M. Vissers, Jeroen F. J. Laros, Esther van Enckevort, Daphne Stemkens, Peter A. C. ‘t Hoen, Jeroen A. M. Beliën, Mariëlle E. van Gijn, Morris A. Swertz
Publikováno v:
Scientific Data, Vol 9, Iss 1, Pp 1-13 (2022)
Abstract The genomes of thousands of individuals are profiled within Dutch healthcare and research each year. However, this valuable genomic data, associated clinical data and consent are captured in different ways and stored across many systems and
Externí odkaz:
https://doaj.org/article/211fcca7dc174d6ebd564f8d9a33709b
Autor:
Matthias Heinig, Michiel E. Adriaens, Sebastian Schafer, Hanneke W. M. van Deutekom, Elisabeth M. Lodder, James S. Ware, Valentin Schneider, Leanne E. Felkin, Esther E. Creemers, Benjamin Meder, Hugo A. Katus, Frank Rühle, Monika Stoll, François Cambien, Eric Villard, Philippe Charron, Andras Varro, Nanette H. Bishopric, Alfred L. George, Cristobal dos Remedios, Aida Moreno-Moral, Francesco Pesce, Anja Bauerfeind, Franz Rüschendorf, Carola Rintisch, Enrico Petretto, Paul J. Barton, Stuart A. Cook, Yigal M. Pinto, Connie R. Bezzina, Norbert Hubner
Publikováno v:
Genome Biology, Vol 18, Iss 1, Pp 1-21 (2017)
Abstract Background Genetic variation is an important determinant of RNA transcription and splicing, which in turn contributes to variation in human traits, including cardiovascular diseases. Results Here we report the first in-depth survey of heart
Externí odkaz:
https://doaj.org/article/8e7bacbcd5ca43fa9bd815bc4899b453
Autor:
Kirsten Geneugelijk, Kirsten A. Thus, Hanneke W. M. van Deutekom, Jorg J. A. Calis, Eric Borst, Can Keşmir, Machteld Oudshoorn, Bronno van der Holt, Ellen Meijer, Sacha Zeerleder, Marco R. de Groot, Peter A. von dem Borne, Nicolaas Schaap, Jan Cornelissen, Jürgen Kuball, Eric Spierings
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
HLA-mismatches in hematopoietic stem-cell transplantation are associated with an impaired overall survival (OS). The aim of this study is to explore whether the Predicted Indirectly ReCognizable HLA-Epitopes (PIRCHE) algorithm can be used to identify
Externí odkaz:
https://doaj.org/article/04efaf33c183496ba8c5a1597d27ee0a
Autor:
Marten H. P. M. Kerkhofs, Hanneke A. Haijes, A. Marcel Willemsen, Koen L. I. van Gassen, Maria van der Ham, Johan Gerrits, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Hanneke W. M. van Deutekom, Peter M. van Hasselt, Nanda M. Verhoeven-Duif, Judith J. M. Jans
Publikováno v:
Metabolites, Vol 10, Iss 5, p 206 (2020)
Next-generation sequencing and next-generation metabolic screening are, independently, increasingly applied in clinical diagnostics of inborn errors of metabolism (IEM). Integrated into a single bioinformatic method, these two –omics technologies c
Externí odkaz:
https://doaj.org/article/0f1989cf6b244a9cb2ff3dced237e8fd
Autor:
Els Wessels, Leo H.J. Jacobs, Sjoerd A A van den Berg, Hanneke W. M. van Deutekom, Wytze P. Oosterhuis, Paul C D Bank, Bastiaan B J Tops, Jesse J. Swen, Mirjam M.C. Wamelink, Claudia A. L. Ruivenkamp, Dörte Hamann, Richard Molenkamp
Publikováno v:
Clinical Chemistry and Laboratory Medicine (CCLM)
Pathologica
Clinical Chemistry and Laboratory Medicine, 59(3), 491-497. De Gruyter
Pathologica
Clinical Chemistry and Laboratory Medicine, 59(3), 491-497. De Gruyter
The in vitro diagnostic medical devices regulation (IVDR) will take effect in May 2022. This regulation has a large impact on both the manufacturers of in vitro diagnostic medical devices (IVD) and clinical laboratories. For clinical laboratories, th
Publikováno v:
Human Immunology. 80:461-464
Next Generation Sequencing (NGS) has become a major technology in HLA typing. The expectations are that highly accurate and unambiguous typing results will be obtained. However, HLA typing by NGS has some limitations caused by imperfections in the PC
Autor:
Judith J.M. Jans, Hanneke W. M. van Deutekom, Hanneke A. Haijes, Johan Gerrits, Marten H. P. M. Kerkhofs, Nanda M. Verhoeven-Duif, A. Marcel Willemsen, Koen L.I. van Gassen, Monique G.M. de Sain-van der Velden, Maria van der Ham, Peter M. van Hasselt, Hubertus C.M.T. Prinsen
Publikováno v:
Metabolites
Volume 10
Issue 5
Metabolites, Vol 10, Iss 206, p 206 (2020)
Volume 10
Issue 5
Metabolites, Vol 10, Iss 206, p 206 (2020)
Next-generation sequencing and next-generation metabolic screening are, independently, increasingly applied in clinical diagnostics of inborn errors of metabolism (IEM). Integrated into a single bioinformatic method, these two &ndash
omics techn
omics techn
Autor:
Jan Haas, Maarten M.G. van den Hoogenhof, Jens Mogensen, Torsten Bloch Rasmussen, Abdelaziz Beqqali, Hanneke W. M. van Deutekom, Ralph J. van Oort, Esther E. Creemers, Ilse A. E. Bollen, Benjamin Meder, Jolanda van der Velden, Sebastian Schafer, Keld E. Sørensen, Yigal M. Pinto, Norbert Hubner
Publikováno v:
Cardiovascular research, 112(1), 452-463. Oxford University Press
Beqqali, A, Bollen, I A E, Rasmussen, T B, van den Hoogenhof, M M, van Deutekom, H W M, Schafer, S, Haas, J, Meder, B, Sorensen, K E, van Oort, R J, Mogensen, J, Hubner, N, Creemers, E E, van der Velden, J & Pinto, Y M 2016, ' A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism ', Cardiovascular Research, vol. 112, no. 1, pp. 452-463 . https://doi.org/10.1093/cvr/cvw192
Beqqali, A, Bollen, I A E, Rasmussen, T B, van den Hoogenhof, M M, van Deutekom, H W M, Schafer-Korting, M, Haas, J, Meder, B, Sorensen, K E, van Oort, R J, Mogensen, J, Hubner, N, Creemers, E E, van der Velden, J & Pinto, Y M 2016, ' A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism ', Cardiovascular Research, vol. 112, no. 1, pp. 452-463 . https://doi.org/10.1093/cvr/cvw192
Cardiovascular Research, 112(1), 452-463. Oxford University Press
Beqqali, A, Bollen, I A E, Rasmussen, T B, van den Hoogenhof, M M, van Deutekom, H W M, Schafer, S, Haas, J, Meder, B, Sorensen, K E, van Oort, R J, Mogensen, J, Hubner, N, Creemers, E E, van der Velden, J & Pinto, Y M 2016, ' A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism ', Cardiovascular Research, vol. 112, no. 1, pp. 452-463 . https://doi.org/10.1093/cvr/cvw192
Beqqali, A, Bollen, I A E, Rasmussen, T B, van den Hoogenhof, M M, van Deutekom, H W M, Schafer-Korting, M, Haas, J, Meder, B, Sorensen, K E, van Oort, R J, Mogensen, J, Hubner, N, Creemers, E E, van der Velden, J & Pinto, Y M 2016, ' A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism ', Cardiovascular Research, vol. 112, no. 1, pp. 452-463 . https://doi.org/10.1093/cvr/cvw192
Cardiovascular Research, 112(1), 452-463. Oxford University Press
Aim Mutations in the RS-domain of RNA-binding motif protein 20 (RBM20) have recently been identified to segregate with aggressive forms of familial dilated cardiomyopathy (DCM). Loss of RBM20 in rats results in missplicing of the sarcomeric gene titi
Autor:
Marieke T. Blom, Daniel A. van Hoeijen, Henk J. Brouwer, Hanneke W. M. van Deutekom, Abdennasser Bardai, Hanno L. Tan
Publikováno v:
Circulation. Arrhythmia and electrophysiology, 7(6), 1033-1039. Lippincott Williams and Wilkins
Circulation: Arrhythmia and Electrophysiology, 7(6), 1033-1039. Lippincott Williams and Wilkins
Bardai, A, Blom, M T, Van Hoeijen, D A, Van Deutekom, H W M, Brouwer, H J & Tan, H L 2014, ' Atrial fibrillation is an independent risk factor for ventricular fibrillation : A large-scale population-based case-control study ', Circulation: Arrhythmia and Electrophysiology, vol. 7, no. 6, pp. 1033-1039 . https://doi.org/10.1161/CIRCEP.114.002094
Circulation: Arrhythmia and Electrophysiology, 7(6), 1033-1039. Lippincott Williams and Wilkins
Bardai, A, Blom, M T, Van Hoeijen, D A, Van Deutekom, H W M, Brouwer, H J & Tan, H L 2014, ' Atrial fibrillation is an independent risk factor for ventricular fibrillation : A large-scale population-based case-control study ', Circulation: Arrhythmia and Electrophysiology, vol. 7, no. 6, pp. 1033-1039 . https://doi.org/10.1161/CIRCEP.114.002094
Background— Atrial fibrillation (AF) is associated with sudden cardiac death. We aimed to study whether AF is associated with ventricular fibrillation (VF), the most common cause of sudden cardiac death and whether this association is independent o