検索結果 - Arthur van den Wijngaard
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Soft substrates normalize nuclear morphology and prevent nuclear rupture in fibroblasts from a laminopathy patient with compound heterozygous LMNA mutations 著者: C Chiara Tamiello, M. A. F. Kamps, Arthur van den Wijngaard, Valerie L. R. M. Verstraeten, Frank Frank Baaijens, Jos L. V. Broers, Carlijn V. C. Bouten
出版事項 2013Artigo -
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Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects 著者: Marja W. Wessels, Johanna C. Herkert, Ingrid M.E. Frohn-Mulder, Michiel Dalinghaus, Arthur van den Wijngaard, Ronald R. de Krijger, Michelle Michels, I.F.M. de Coo, Yvonne M. Hoedemaekers, Dennis Dooijes
出版事項 2014Artigo -
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Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy 著者: Job A.J. Verdonschot, Mark R. Hazebroek, Ping Wang, Sandra Sanders‐van Wijk, Jort J. Merken, Yvonne A. Adriaansen, Arthur van den Wijngaard, Ingrid P.C. Krapels, Hans‐Peter Brunner‐La Rocca, Han G. Brunner, Stéphane Heymans
出版事項 2018Artigo -
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Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands 著者: Imke Christiaans, Eline A. Nannenberg, Dennis Dooijes, R. J. E. Jongbloed, Michelle Michels, Pieter G. Postema, Daniëlle Majoor‐Krakauer, Arthur van den Wijngaard, Marcel M.A.M. Mannens, J. Peter van Tintelen, Irene M. van Langen, Arthur A.M. Wilde
出版事項 2010Artigo -
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Implications of Genetic Testing in Dilated Cardiomyopathy 著者: Job A.J. Verdonschot, Mark R. Hazebroek, Ingrid P.C. Krapels, Michiel T.H.M. Henkens, Anne G. Raafs, Ping Wang, Jort J. Merken, Godelieve R.F. Claes, Els K. Vanhoutte, Arthur van den Wijngaard, Stéphane Heymans, Han G. Brunner
出版事項 2020Artigo -
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Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy 著者: Mark R. Hazebroek, Suzanne Moors, Robert Dennert, Arthur van den Wijngaard, Ingrid P.C. Krapels, Marije B. Hoos, Job A.J. Verdonschot, Jort J. Merken, Bart de Vries, Petra Wolffs, Harry J.G.M. Crijns, Hans‐Peter Brunner‐La Rocca, Stéphane Heymans
出版事項 2015Artigo -
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Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories 著者: Marjan M. Weiss, Bert van der Zwaag, Jan D.H. Jongbloed, Maartje J. Vogel, Hennie T. Brüggenwirth, Ronald H. Lekanne Deprez, Olaf R.F. Mook, Claudia Ruivenkamp, Marjon A. van Slegtenhorst, Arthur van den Wijngaard, Quinten Waisfisz, Marcel Nelen, Nienke van der Stoep
出版事項 2013Revisão -
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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice 著者: Suzanne C.E.H. Sallevelt, Alexander P.A. Stegmann, Bart de Koning, Crool Velter, Anja Steyls, Melanie van Esch, Phillis Lakeman, Helger G. Yntema, Masoud Zamani Esteki, Christine de Die‐Smulders, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Aimée Paulussen
出版事項 2021Artigo -
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Propionic acidemia as a cause of adult-onset dilated cardiomyopathy 著者: Moniek Riemersma, Mark R. Hazebroek, Appolonia T J M Helderman-van den Enden, Gajja S. Salomons, Sacha Ferdinandusse, Martijn C.G.J. Brouwers, Liesbeth van der Ploeg, Stéphane Heymans, Jan F. C. Glatz, Arthur van den Wijngaard, Ingrid P.C. Krapels, Jörgen Bierau, Han G. Brunner
出版事項 2017Artigo -
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Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands 著者: Bas C. Stunnenberg, Joost Raaphorst, Johanna C.W. Deenen, Thera P. Links, Arthur A.M. Wilde, Dennis J Verbove, Erik‐Jan Kamsteeg, Arthur van den Wijngaard, Catharina G. Faber, Gert Jan van der Wilt, Baziel G.M. van Engelen, Gea Drost, H.B. Ginjaar
出版事項 2018Artigo -
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Aging promotes accumulation of senescent and multiciliated cells in human endometrial epithelium 著者: Marina Loid, Darina Obukhova, Keiu Kask, Apostol Apostolov, Alvin Meltsov, Demis Tserpelis, Arthur van den Wijngaard, Signe Altmäe, Galina Yahubyan, Vesselin Baev, Merli Saare, Maire Peters, Ave Minajeva, Priit Adler, Ganesh Acharya, Kaarel Krjutškov, Maria Nikolova, Felipe Vilella, Carlos Simón, Masoud Zamani Esteki, Andres Salumets
出版事項 2024Artigo -
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Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies 著者: Winnok H. De Vos, Frederik Houben, M. A. F. Kamps, Ashraf N. Malhas, Fons Verheyen, Juliën Cox, Erik M. M. Manders, Valerie L. R. M. Verstraeten, Maurice A. M. Van Steensel, Carlo Marcelis, Arthur van den Wijngaard, David J. Vaux, Frans C. S. Ramaekers, Jos L. V. Broers
出版事項 2011Artigo -
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Value of Speckle Tracking–Based Deformation Analysis in Screening Relatives of Patients With Asymptomatic Dilated Cardiomyopathy 著者: Job A.J. Verdonschot, Jort J. Merken, Hans‐Peter Brunner‐La Rocca, Mark R. Hazebroek, Casper Eurlings, Eline Thijssen, Ping Wang, Jerremy Weerts, Vanessa van Empel, Georg Schummers, Marcus Schreckenberg, Arthur van den Wijngaard, Joost Lumens, Han G. Brunner, Stéphane Heymans, Ingrid P.C. Krapels, Christian Knackstedt
出版事項 2019Artigo -
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Evidence of digenic inheritance in Alport syndrome 著者: Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey, Michel van Geel, Bertrand Knebelmann, Chiara Fallerini, Nunzia Miglietti, Maria Fatima Antonucci, Francesco Cetta, John A. Sayer, Arthur van den Wijngaard, Shu Yau, Francesca Mari, Mirella Bruttini, Francesca Ariani, Karin Dahan, H.J.M. Smeets, Corinne Antignac, Frances Flinter, Alessandra Renieri
出版事項 2015Artigo -
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Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences 著者: Job A.J. Verdonschot, Marco Merlo, Fernándo Domínguez, Ping Wang, Michiel T.H.M. Henkens, Michiel Adriaens, Mark R. Hazebroek, Marco Masè, Luis Escobar-López, Rafael Cobas Paz, Kasper Derks, Arthur van den Wijngaard, Ingrid P.C. Krapels, Han G. Brunner, Gianfranco Sinagra, Pablo García‐Pavía, Stéphane Heymans
出版事項 2020Artigo -
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HiFi long-read genomes for difficult-to-detect, clinically relevant variants 著者: Wolfram Höps, Marjan M. Weiss, Ronny Derks, Jordi Corominas Galbany, Amber den Ouden, Simone van den Heuvel, Raoul Timmermans, Jos G.A. Smits, Tom Mokveld, Egor Dolzhenko, Xiao Chen, Arthur van den Wijngaard, Michael A. Eberle, Helger G. Yntema, Alexander Hoischen, Christian Gilissen, Lisenka E.L.M. Vissers
出版事項 2025Artigo -
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Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy 著者: Arthur van den Wijngaard, Paul G.A. Volders, J. Peter van Tintelen, Jan D.H. Jongbloed, Maarten P. van den Berg, R. H. Lekanne Deprez, Marcel M.A.M. Mannens, Natalia K. Hofmann, Marjon van Slegtenhorst, Dennis Dooijes, Michelle Michels, Yvonne Arens, R. J. E. Jongbloed, H.J.M. Smeets
出版事項 2011Artigo -
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Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias 著者: Job A.J. Verdonschot, Mark R. Hazebroek, Kasper Derks, Arantxa Barandiarán Aizpurua, Jort J. Merken, Ping Wang, Jörgen Bierau, Arthur van den Wijngaard, Simon Schalla, Myrurgia Abdul Hamid, Marc van Bilsen, Vanessa van Empel, Christian Knackstedt, Hans‐Peter Brunner‐La Rocca, Han G. Brunner, Ingrid P.C. Krapels, Stéphane Heymans
出版事項 2017Editorial -
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Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo 著者: Freyja H.M. van Lint, Brittney Murray, Crystal Tichnell, Rob Zwart, Nuria Amat, Ronald H. Lekanne Deprez, Sven Dittmann, Birgit Stallmeyer, Hugh Calkins, Jasper J. van der Smagt, Arthur van den Wijngaard, Dennis Dooijes, Paul A. van der Zwaag, Eric Schulze‐Bahr, Daniel P. Judge, Jan D.H. Jongbloed, J. Peter van Tintelen, Cynthia A. James
出版事項 2019Artigo
関連主題
Biology
Genetics
Medicine
Gene
Internal medicine
Mutation
Cardiology
Cardiomyopathy
Heart failure
Dilated cardiomyopathy
Computational biology
Genetic testing
Genotype
Phenotype
DNA sequencing
Genome
Exome sequencing
Haplotype
Hypertrophic cardiomyopathy
Whole genome sequencing
Arrhythmogenic right ventricular dysplasia
Computer science
Exome
LMNA
Lamin
Missense mutation
Pathology
Proband
Atrial fibrillation
Bioinformatics