Search Results - "Claes, Godelieve"

Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy by Stroeks, Sophie L. V. M., Hellebrekers, Debby M. E. I., Claes, Godelieve R. F., Tayal, Upasana, Krapels, Ingrid P. C., Vanhoutte, Els K., van den Wijngaard, Arthur, Henkens, Michiel T. H. M., Ware, James S., Heymans, Stephane R. B., Brunner, Han G., Verdonschot, Job A. J.

“…Purpose Accurate interpretation of variants detected in dilated cardiomyopathy (DCM) is crucial for patient care but has proven challenging. We applied a set…”
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Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy by Stroeks, Sophie L V M, Hellebrekers, Debby, Claes, Godelieve R F, Krapels, Ingrid P C, Henkens, Michiel H T M, Sikking, Maurits, Vanhoutte, Els K, Helderman-van den Enden, Apollonia, Brunner, Han G, van den Wijngaard, Arthur, Verdonschot, Job A J

“…It was previously suggested that increasing the number of genes on diagnostic gene panels could increase the genetic yield in patient with dilated…”
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Implications of Genetic Testing in Dilated Cardiomyopathy by Verdonschot, Job A.J., Hazebroek, Mark R., Krapels, Ingrid P.C., Henkens, Michiel T.H.M., Raafs, Anne, Wang, Ping, Merken, Jort J., Claes, Godelieve R.F., Vanhoutte, Els K., van den Wijngaard, Arthur, Heymans, Stephane R.B., Brunner, Han G.

“…Genetic analysis is a first-tier test in dilated cardiomyopathy (DCM). Electrical phenotypes are common in genetic DCM, but their exact contribution to the…”
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A mutation update for the FLNC gene in myopathies and cardiomyopathies by Verdonschot, Job A. J., Vanhoutte, Els K., Claes, Godelieve R. F., Helderman‐van den Enden, Apollonia T. J. M., Hoeijmakers, Janneke G. J., Hellebrekers, Debby M. E. I., Haan, Amber, Christiaans, Imke, Lekanne Deprez, Ronald H., Boen, Hanne M., Craenenbroeck, Emeline M., Loeys, Bart L., Hoedemaekers, Yvonne M., Marcelis, Carlo, Kempers, Marlies, Brusse, Esther, Waning, Jaap I., Baas, Annette F., Dooijes, Dennis, Asselbergs, Folkert W., Barge‐Schaapveld, Daniela Q. C. M., Koopman, Pieter, Wijngaard, Arthur, Heymans, Stephane R. B., Krapels, Ingrid P. C., Brunner, Han G.

“…Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally, FLNC variants were described in myofibrillar myopathy (MFM)…”
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Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers by Claes, Godelieve R F, van Tienen, Florence H J, Lindsey, Patrick, Krapels, Ingrid P C, Helderman-van den Enden, Apollonia T J M, Hoos, Marije B, Barrois, Yvette E G, Janssen, Johanna W H, Paulussen, Aimée D C, Sels, Jan-Willem E M, Kuijpers, Simone H H, van Tintelen, J Peter, van den Berg, Maarten P, Heesen, Wilfred F, Garcia-Pavia, Pablo, Perrot, Andreas, Christiaans, Imke, Salemink, Simone, Marcelis, Carlo L M, Smeets, Hubert J M, Brunner, Han G, Volders, Paul G A, van den Wijngaard, Arthur

“…Phenotypic heterogeneity and incomplete penetrance are common in patients with hypertrophic cardiomyopathy (HCM). We aim to improve the understanding in…”
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Rare novel variants in the ZIC3 gene cause X-linked heterotaxy by Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, van Tienen, Florence Hj, Krapels, Ingrid P C, Claes, Godelieve Rf, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M, Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G, Smeets, Hubert J M, Bakkers, Jeroen, van den Wijngaard, Arthur

“…Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical significance in X-linked heterotaxy, affecting in particular male patients…”
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Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy—a case report by ter Bekke, Rachel M A, de Schouwer, Koen, Conti, Sergio, Claes, Godelieve R F, Vanoevelen, Jo, Gommers, Suzanne, Helderman-van den Enden, Apollonia T J M, Brunner-LaRocca, Hans-Peter

“…Abstract Background Juvenile onset of extensive atrial electromechanical failure, including atrial standstill, is a rare disease entity that may precede…”
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Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy by Stroeks, Sophie L.V.M., Lunde, Ida G., Hellebrekers, Debby M.E.I., Claes, Godelieve R.F., Wakimoto, Hiroko, Gorham, Joshua, Krapels, Ingrid P.C., Vanhoutte, Els K., van den Wijngaard, Arthur, Henkens, Michiel T.H.M., Raafs, Anne G., Sikking, Maurits A., Broers, Jos L.V., Nabben, Miranda, Jones, Elizabeth A.V., Heymans, Stephane R.B., Brunner, Han G., Verdonschot, Job A.J.

“…Dilated cardiomyopathy (DCM) was considered a monogenetic disease that can be caused by over 60 genes. Evidence suggests that the combination of multiple…”
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Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers by Verdonschot, Job A. J., Robinson, Emma L., James, Kiely N., Mohamed, Mohamed W., Claes, Godelieve R. F., Casas, Kari, Vanhoutte, Els K., Hazebroek, Mark R., Kringlen, Gabriel, Pasierb, Michele M., Wijngaard, Arthur, Glatz, Jan F. C., Heymans, Stephane R. B., Krapels, Ingrid P. C., Nahas, Shareef, Brunner, Han G., Szklarczyk, Radek

“…Background A causal genetic mutation is found in 40% of families with dilated cardiomyopathy (DCM), leaving a large percentage of families genetically…”
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Genetic Landscape of Patients With Dilated Cardiomyopathy and a Systemic Immune-Mediated Disease by Stroeks, Sophie L V M, Henkens, Michiel T H M, Dominguez, Fernando, Merlo, Marco, Hellebrekers, Debby M E I, Gonzalez-Lopez, Esther, Dal Ferro, Matteo, Ochoa, Juan Pablo, Venturelli, Francesco, Claes, Godelieve R F, Venner, Max F G H M, Krapels, Ingrid P C, Vanhoutte, Els K, van Paassen, Pieter, van den Wijngaard, Arthur, Sikking, Maurits A, van Leeuwen, Rick, Abdul Hamid, Myrurgia, Li, Xiaofei, Brunner, Han G, Sinagra, Gianfranco, Garcia-Pavia, Pablo, Heymans, Stephane R B, Verdonschot, Job A J

“…Systemic immune-mediated diseases (SIDs) are a well-known cause of dilated cardiomyopathy (DCM), a cardiac phenotype influenced by genetic predispositions and…”
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Abstract 13995: Proarrhythmic Electromechanical Heterogeneities in Patients With KCNJ2 Mutations by Deissler, Peter M, Stoks, Job, van Rees, Bianca, Lewetag, Raphaela, Koopman, Pieter, Gommers, Suzanne, Holtackers, Robert J, Claes, Godelieve R, Cluitmans, Matthijs J, Geukens, Robert, Heinzel, Frank R, Odening, Katja E, Volders, Paul G, Ter Bekke, Rachel

“…IntroductionLoss-of-function mutations of the KCNJ2 gene encoding the inward-rectifier potassium channel, IK1, are associated with QT prolongation, prominent U…”
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Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy--a case report by Bekke, Rachel M.A. ter, Schouwer, Koen de, Conti, Sergio, Claes, Godelieve R.F, Vanoevelen, Jo, Gommers, Suzanne, Enden, Apollonia T.J.M. Helderman-van den, Brunner-LaRocca, Hans-Peter

“…Background Juvenile onset of extensive atrial electromechanical failure, including atrial standstill, is a rare disease entity that may precede ventricular…”
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Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects by Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky J J, van den Hout, Mirjam C G N, van Hove, Steven, Johansson, Lennart F, Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, de Koning, Bart, Kriek, Marjolein, Lekanne Dit Deprez, Ronald, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J, Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Marjan Weiss, Janneke, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred F J, den Dunnen, Johan, Veltman, Joris A, Hennekam, Raoul, Cuppen, Edwin

“…Implementation of next-generation DNA sequencing (NGS) technology into routine diagnostic genome care requires strategic choices. Instead of theoretical…”
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Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy by Stroeks, Sophie L.V.M., Lunde, Ida G., Hellebrekers, Debby M.E.I., Claes, Godelieve R.F., Wakimoto, Hiroko, Gorham, Joshua, Krapels, Ingrid P.C., Vanhoutte, Els K., van den Wijngaard, Arthur, Henkens, Michiel T.H.M., Raafs, Anne G., Sikking, Maurits A., Broers, Jos L.V., Nabben, Miranda, Jones, Elizabeth A.V., Heymans, Stephane R.B., Brunner, Han G., Verdonschot, Job A.J.

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Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects by Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky J J, van den Hout, Mirjam C G N, van Hove, Steven, Johansson, Lennart F, Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, de Koning, Bart, Kriek, Marjolein, Deprez, Ronald Lekanne Dit, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J, Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Weiss, Janneke Marjan, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred F J, den Dunnen, Johan T, Veltman, Joris A, Hennekam, Raoul, Cuppen, Edwin

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Erratum: Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects by Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky JJ, van den Hout, Mirjam CGN, van Hove, Steven, Johansson, Lennart F, Jongbloed, Jan DH, Kamps, Rick, Kockx, Christel EM, de Koning, Bart, Kriek, Marjolein, Deprez, Ronald Lekanne dit, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J, Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Weiss, Janneke Marjan, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred FJ, den Dunnen, Johan T, Veltman, Joris A, Hennekam, Raoul, Cuppen, Edwin

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Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy-a case report by Ter Bekke, Rachel M A, de Schouwer, Koen, Conti, Sergio, Claes, Godelieve R F, Vanoevelen, Jo, Gommers, Suzanne, Helderman-van den Enden, Apollonia T J M, Brunner-LaRocca, Hans-Peter

“…BackgroundJuvenile onset of extensive atrial electromechanical failure, including atrial standstill, is a rare disease entity that may precede ventricular…”
Get full text