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Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics
Sikkema-Raddatz, Birgit, Johansson, Lennart F., de Boer, Eddy N., Almomani, Rowida, Boven, Ludolf G., van den Berg, Maarten P., van Spaendonck-Zwarts, Karin Y., van Tintelen, J. Peter, Sijmons, Rolf H., Jongbloed, Jan D. H., Sinke, Richard J.
Published in Human mutation (01.07.2013)
Published in Human mutation (01.07.2013)
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Journal Article
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy
van der Zwaag, Paul A., van Rijsingen, Ingrid A.W., Asimaki, Angeliki, Jongbloed, Jan D.H., van Veldhuisen, Dirk J., Wiesfeld, Ans C.P., Cox, Moniek G.P.J., van Lochem, Laura T., de Boer, Rudolf A., Hofstra, Robert M.W., Christiaans, Imke, van Spaendonck-Zwarts, Karin Y., Lekanne dit Deprez, Ronald H., Judge, Daniel P., Calkins, Hugh, Suurmeijer, Albert J.H., Hauer, Richard N.W., Saffitz, Jeffrey E., Wilde, Arthur A.M., van den Berg, Maarten P., van Tintelen, J. Peter
Published in European journal of heart failure (01.11.2012)
Published in European journal of heart failure (01.11.2012)
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Journal Article
A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation
Vermeer, Mathilde C.S.C., Al‐Shinnag, Mohammad, Silljé, Herman H.W., Gaytan, Antonio Esquivel, Murrell, Dedee F., McGaughran, Julie, Melbourne, Wei, Cowan, Timothy, Akker, Peter C., Spaendonck‐Zwarts, Karin Y., Meer, Peter, Bolling, Maria C.
Published in British journal of dermatology (1951) (01.12.2022)
Published in British journal of dermatology (1951) (01.12.2022)
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Journal Article
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy
Jansweijer, Joeri A., Nieuwhof, Karin, Russo, Francesco, Hoorntje, Edgar T., Jongbloed, Jan D.H., Lekanne Deprez, Ronald H., Postma, Alex V., Bronk, Marieke, van Rijsingen, Ingrid A.W., de Haij, Simone, Biagini, Elena, van Haelst, Paul L., van Wijngaarden, Jan, van den Berg, Maarten P., Wilde, Arthur A.M., Mannens, Marcel M.A.M., de Boer, Rudolf A., van Spaendonck‐Zwarts, Karin Y., van Tintelen, J. Peter, Pinto, Yigal M.
Published in European journal of heart failure (01.04.2017)
Published in European journal of heart failure (01.04.2017)
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Journal Article
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience
van Spaendonck-Zwarts, Karin Y., van Rijsingen, Ingrid A.W., van den Berg, Maarten P., Lekanne Deprez, Ronald H., Post, Jan G., van Mil, Anneke M., Asselbergs, Folkert W., Christiaans, Imke, van Langen, Irene M., Wilde, Arthur A.M., de Boer, Rudolf A., Jongbloed, Jan D.H., Pinto, Yigal M., van Tintelen, J. Peter
Published in European journal of heart failure (01.06.2013)
Published in European journal of heart failure (01.06.2013)
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Journal Article
SMARCA4-associated schwannomatosis
Chan-Pak-Choon, Fiona, Roca, Carla, Chong, Anne-Sophie, Nogué, Clara, Dahlum, Sonja, Austin, Rachel, Mar Fan, Helen, van Spaendonck-Zwarts, Karin Y., Lambie, Neil K., Robertson, Thomas, Siebert, Reiner, Rivera, Barbara, Foulkes, William D.
Published in Acta neuropathologica (01.04.2023)
Published in Acta neuropathologica (01.04.2023)
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Journal Article
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers
Yang, Xin, Mooij, Thea M, Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F., Jakubowska, Anna, van Gils, Carla H, Tan, Yen Y, Engel, Christoph, Adank, Muriel A, van Asperen, Christi J, Ausems, Margreet G E M, Berthet, Pascaline, Collee, Margriet J, Cook, Jackie A, Eason, Jacqueline, Spaendonck-Zwarts, Karin Y van, Evans, D. Gareth, Gómez García, Encarna B, Hanson, Helen, Izatt, Louise, Kemp, Zoe, Lalloo, Fiona, Lasset, Christine, Lesueur, Fabienne, Musgrave, Hannah, Nambot, Sophie, Noguès, Catherine, Oosterwijk, Jan C, Stoppa-lyonnet, Dominique, Tischkowitz, Marc, Tripathi, Vishakha, Wevers, Marijke R, Zhao, Emily, van Leeuwen, Flora E, Schmidt, Marjanka K, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C, Kanani, Farah, Davidson, Rosemarie, Snape, Katie, Side, Lucy, Copeland, Harriet, Ahmed, Munaza, Brennan, Paul, Walker, Lisa, Murray, Jennie, Donaldson, Alan, Searle, Claire, Morrison, Patrick, Barwell, Julian, Rogers, Mark T, New, Rachel Hart, Brady, Angela, Gallagher, David, Miedzybrodzka, Zosia, Conti, Hector, Murray, Alex, Ong, Kai-Ren, Kennedy, John, Gregory, Helen
Published in Journal of medical genetics (01.08.2024)
Published in Journal of medical genetics (01.08.2024)
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Journal Article
Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy
Akinrinade, Oyediran, Heliö, Tiina, Lekanne Deprez, Ronald H., Jongbloed, Jan D. H., Boven, Ludolf G., van den Berg, Maarten P., Pinto, Yigal M., Alastalo, Tero-Pekka, Myllykangas, Samuel, Spaendonck-Zwarts, Karin van, van Tintelen, J. Peter, van der Zwaag, Paul A., Koskenvuo, Juha
Published in Scientific reports (11.03.2019)
Published in Scientific reports (11.03.2019)
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Journal Article
KBTBD13 is a novel cardiomyopathy gene
Winter, Josine M., Bouman, Karlijn, Strom, Joshua, Methawasin, Mei, Jongbloed, Jan D. H., Roest, Wilma, Wijngaarden, Jan van, Timmermans, Janneke, Nijveldt, Robin, Heuvel, Frederik, Kamsteeg, Erik‐Jan, Engelen, Baziel G., Galli, Ricardo, Bogaards, Sylvia J. P., Boon, Reinier A., Pijl, Robbert J., Granzier, Henk, Koeleman, Bobby, Amin, Ahmad S., Velden, Jolanda, Tintelen, J. Peter, Berg, Maarten P., Spaendonck‐Zwarts, Karin Y., Voermans, Nicol C., Ottenheijm, Coen A. C.
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Journal Article
Pathogenic variants in three families with distal muscle involvement
Weterman, Marian A.J., Bronk, Marieke, Jongejan, Aldo, Hoogendijk, Jessica E., Krudde, Judith, Karjosukarso, Dyah, Goebel, Hans H., Aronica, Eleonora, Jöbsis, G. Joost, van Ruissen, Fred, van Spaendonck-Zwarts, Karin Y., de Visser, Marianne, Baas, Frank
Published in Neuromuscular disorders : NMD (01.01.2023)
Published in Neuromuscular disorders : NMD (01.01.2023)
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Journal Article
RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling
van den Hoogenhof, Maarten M.G., Beqqali, Abdelaziz, Amin, Ahmad S., van der Made, Ingeborg, Aufiero, Simona, Khan, Mohsin A.F., Schumacher, Cees A., Jansweijer, Joeri A., van Spaendonck-Zwarts, Karin Y., Remme, Carol Ann, Backs, Johannes, Verkerk, Arie O., Baartscheer, Antonius, Pinto, Yigal M., Creemers, Esther E.
Published in Circulation (New York, N.Y.) (25.09.2018)
Published in Circulation (New York, N.Y.) (25.09.2018)
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Journal Article
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum
Škorić‐Milosavljević, Doris, Tjong, Fleur V. Y., Barc, Julien, Backx, Ad P. C. M., Clur, Sally‐Ann B., Spaendonck‐Zwarts, Karin, Oostra, Roelof‐Jan, Lahrouchi, Najim, Beekman, Leander, Bökenkamp, Regina, Barge‐Schaapveld, Daniela Q. C. M., Mulder, Barbara J., Lodder, Elisabeth M., Bezzina, Connie R., Postma, Alex V.
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
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Journal Article
Systematic review of pregnancy in women with inherited cardiomyopathies
Krul, Sébastien P.J., van der Smagt, Jasper J., van den Berg, Maarten P., Sollie, Krystyna M., Pieper, Petronella G., van Spaendonck-Zwarts, Karin Y.
Published in European journal of heart failure (01.06.2011)
Published in European journal of heart failure (01.06.2011)
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Journal Article
Titin Circular RNAs Create a Back-Splice Motif Essential for SRSF10 Splicing
Tijsen, Anke J., Cócera Ortega, Lucía, Reckman, Yolan J., Zhang, Xiaolei, van der Made, Ingeborg, Aufiero, Simona, Li, Jiuru, Kamps, Selina C., van den Bout, Anouk, Devalla, Harsha D., van Spaendonck-Zwarts, Karin Y., Engelhardt, Stefan, Gepstein, Lior, Ware, James S., Pinto, Yigal M.
Published in Circulation (New York, N.Y.) (13.04.2021)
Published in Circulation (New York, N.Y.) (13.04.2021)
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Journal Article
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy
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 M., Lekanne Deprez, Ronald H., Barge‐Schaapveld, Daniela Q.C.M., Bootsma, Marianne, Regieli, Jakub, Hoedemaekers, Yvonne M., Jongbloed, Jan D.H., van den Berg, Maarten P., van Tintelen, J. Peter
Published in European journal of heart failure (01.04.2018)
Published in European journal of heart failure (01.04.2018)
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Journal Article
Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations
van Paassen, Barbara W., Bronk, Marieke, Verhamme, Camiel, van Ruissen, Fred, Baas, Frank, van Spaendonck‐Zwarts, Karin Y., de Visser, Marianne
Published in Journal of the peripheral nervous system (01.12.2017)
Published in Journal of the peripheral nervous system (01.12.2017)
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Journal Article
Peripartum Cardiomyopathy as a Part of Familial Dilated Cardiomyopathy
van Spaendonck-Zwarts, Karin Y., van Tintelen, J. Peter, van Veldhuisen, Dirk J., van der Werf, Rik, Jongbloed, Jan D.H., Paulus, Walter J., Dooijes, Dennis, van den Berg, Maarten P.
Published in Circulation (New York, N.Y.) (25.05.2010)
Published in Circulation (New York, N.Y.) (25.05.2010)
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Journal Article
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina
Segarra, Nuria Garcia, Ballhausen, Diana, Crawford, Heather, Perreau, Matthieu, Campos-Xavier, Belinda, van Spaendonck-Zwarts, Karin, Vermeer, Cees, Russo, Michel, Zambelli, Pierre-Yves, Stevenson, Brian, Royer-Bertrand, Beryl, Rivolta, Carlo, Candotti, Fabio, Unger, Sheila, Munier, Francis L., Superti-Furga, Andrea, Bonafé, Luisa
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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Journal Article
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
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., van Tintelen, J. Peter
Published in Netherlands heart journal (01.08.2023)
Published in Netherlands heart journal (01.08.2023)
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Journal Article
Legius syndrome in fourteen families
Denayer, Ellen, Chmara, Magdalena, Brems, Hilde, Kievit, Anneke Maat, van Bever, Yolande, Van den Ouweland, Ans MW, Van Minkelen, Rick, de Goede-Bolder, Arja, Oostenbrink, Rianne, Lakeman, Phillis, Beert, Eline, Ishizaki, Takuma, Mori, Tomoaki, Keymolen, Kathelijn, Van den Ende, Jenneke, Mangold, Elisabeth, Peltonen, Sirkku, Brice, Glen, Rankin, Julia, Van Spaendonck-Zwarts, Karin Y, Yoshimura, Akihiko, Legius, Eric
Published in Human mutation (01.01.2011)
Published in Human mutation (01.01.2011)
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Journal Article