Search Results - "Posafalvi, Anna"

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy by Hoorntje, Edgar T, Posafalvi, Anna, Syrris, Petros, van der Velde, K Joeri, Bolling, Marieke C, Protonotarios, Alexandros, Boven, Ludolf G, Amat-Codina, Nuria, Groeneweg, Judith A, Wilde, Arthur A, Sobreira, Nara, Calkins, Hugh, Hauer, Richard N W, Jonkman, Marcel F, McKenna, William J, Elliott, Perry M, Sinke, Richard J, van den Berg, Maarten P, Chelko, Stephen P, James, Cynthia A, van Tintelen, J Peter, Judge, Daniel P, Jongbloed, Jan D H

“…Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular…”
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Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy by van Spaendonck-Zwarts, Karin Y, Posafalvi, Anna, van den Berg, Maarten P, Hilfiker-Kleiner, Denise, Bollen, Ilse A E, Sliwa, Karen, Alders, Mariëlle, Almomani, Rowida, van Langen, Irene M, van der Meer, Peter, Sinke, Richard J, van der Velden, Jolanda, Van Veldhuisen, Dirk J, van Tintelen, J Peter, Jongbloed, Jan D H

“…Peripartum cardiomyopathy (PPCM) can be an initial manifestation of familial dilated cardiomyopathy (DCM). We aimed to identify mutations in families that…”
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Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients by Alimohamed, Mohamed Z., Johansson, Lennart F., Posafalvi, Anna, Boven, Ludolf G., van Dijk, Krista K., Walters, Lisa, Vos, Yvonne J., Westers, Helga, Hoedemaekers, Yvonne M., Sinke, Richard J., Sijmons, Rolf H., Sikkema-Raddatz, Birgit, Jongbloed, Jan D.H., van der Zwaag, Paul A.

“…Next-generation sequencing (NGS) is increasingly used for clinical evaluation of cardiomyopathy patients as it allows for simultaneous screening of multiple…”
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Clinical utility gene card for: dilated cardiomyopathy (CMD) by Posafalvi, Anna, Herkert, Johanna C, Sinke, Richard J, van den Berg, Maarten P, Mogensen, Jens, Jongbloed, Jan D H, van Tintelen, J Peter

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Abstract 15882: Gene-Panel Based Next Generation Sequencing (NGS) Greatly Improves Clinical Genetic Diagnostics in Inherited Cardiomyopathies by Jongbloed, Jan D, Pósafalvi, Anna, Niessen, Renée C, Hoedemaekers, Yvonne M, van der Zwaag, Paul A, Barge-Schaapveld, Daniela Q, Piers, Sebastiaan R, van der Smagt, Jasper J, Asselbergs, Folkert W, de Boer, Rudolf A, van den Berg, Maarten P, Almomani, Rowida, Sinke, Richard J, van Tintelen, J. P

“…Abstract only INTRODUCTION: NGS techniques can be successfully applied to find mutations underlying genetic cardiomyopathies. However, Exome Sequencing (ES)…”
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