Resultados de búsqueda - Marjon A. van Slegtenhorst

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  1. 1
    Characterization of the Cytosolic Tuberin-Hamartin Complex

    Characterization of the Cytosolic Tuberin-Hamartin Complex por Mark Nellist, Marjon A. van Slegtenhorst, Miriam Goedbloed, Ans M.W. van den Ouweland, Dicky Halley, Peter van der Sluijs

    Publicado 1999
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  2. 2
    Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy

    Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy por Hannah G. van Velzen, Arend F. L. Schinkel, Sara J. Baart, Rogier A. Oldenburg, Ingrid M.E. Frohn-Mulder, Marjon A. van Slegtenhorst, Michelle Michels

    Publicado 2018
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  3. 3
    Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy

    Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy por Jaap I. van Waning, Kadir Çalişkan, Michelle Michels, Arend F. L. Schinkel, Alexander Hirsch, Michiel Dalinghaus, Yvonne M. Hoedemaekers, Marja W. Wessels, Arne IJpma, Robert M.W. Hofstra, Marjon A. van Slegtenhorst, Daniëlle Majoor‐Krakauer

    Publicado 2019
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  4. 4
    Genotype-negative hypertrophic cardiomyopathy: Exploring the role of cardiovascular risk factors in disease expression

    Genotype-negative hypertrophic cardiomyopathy: Exploring the role of cardiovascular risk factors in disease expression por Stephan A C Schoonvelde, Edgar E. Nollet, Peter-Paul Zwetsloot, Christian Knackstedt, Tjeerd Germans, Alexander Hirsch, Arend F. L. Schinkel, Marjon A. van Slegtenhorst, Judith M.A. Verhagen, Rudolf A. de Boer, Jolanda van der Velden, Michelle Michels

    Publicado 2025
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  5. 5
    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories por 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

    Publicado 2013
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  6. 6
    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features por Hallie Steinfeld, Megan T. Cho, Kyle Retterer, Rick Person, G. Bradley Schaefer, Noelle R. Danylchuk, Saleem Malik, Stephanie Burns Wechsler, Patricia G. Wheeler, Koen L.I. van Gassen, Paulien A. Terhal, Virginie J. M. Verhoeven, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Lindsay B. Henderson, Wendy K. Chung

    Publicado 2016
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  7. 7
    Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings

    Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings por Sean L. Zheng, Sean J. Jurgens, Kathryn A. McGurk, Xiao Yun Xu, Chris Grace, Pantazis Theotokis, Rachel Buchan, Catherine Francis, Antonio de Marvao, Lara Curran, Wenjia Bai, Chee Jian Pua, Hak Chiaw Tang, Paloma Jordà, Marjon A. van Slegtenhorst, Judith M.A. Verhagen, Andrew R. Harper, Elizabeth Ormondroyd, Calvin Chin, Antonio de Marvao, Marjon A. van Slegtenhorst, James S. Ware, Antonios Pantazis, John Baksi, Brian P. Halliday, Paul M. Matthews, Yigal M. Pinto, Roddy Walsh, Ahmad S. Amin, Arthur A.M. Wilde, Stuart A. Cook, Sanjay Prasad, Paul J.R. Barton, Declan P. O’Regan, R. Thomas Lumbers, Anuj Goel, Rafik Tadros, Michelle Michels, Hugh Watkins, Connie R. Bezzina, James S. Ware

    Publicado 2025
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  8. 8
    Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

    Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion por Janne J. M. van Schie, Atiq Faramarz, Jesper A. Balk, Grant S. Stewart, Erika Cantelli, Anneke B. Oostra, Martin A. Rooimans, Joanna L. Parish, Cynthia de Almeida Estéves, Katja Dumić, Ingeborg Barišić, Karin E. M. Diderich, Marjon A. van Slegtenhorst, Mohammad Mahtab, Francesca M. Pisani, Hein te Riele, Najim Ameziane, Rob M.F. Wolthuis, Job de Lange

    Publicado 2020
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  9. 9
    Perturbed Length-Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations

    Perturbed Length-Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations por Vasco Sequeira, Paul J.M. Wijnker, Louise L.A.M. Nijenkamp, Diederik W.D. Kuster, Aref Najafi, E. Rosalie Witjas‐Paalberends, Jessica A. Regan, Nicky M. Boontje, Folkert J. ten Cate, Tjeerd Germans, Lucie Carrier, Sakthivel Sadayappan, Marjon A. van Slegtenhorst, R. Zaremba, D. Brian Foster, Anne M. Murphy, Corrado Poggesi, Cristobal G. dos Remedios, Ger J.M. Stienen, Carolyn Y. Ho, Michelle Michels, Jolanda van der Velden

    Publicado 2013
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  10. 10
    Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

    Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency por Chloé Saunier, Svein I. Støve, Bernt Popp, Bénédicte Gérard, Marina Blenski, Nicholas AhMew, Charlotte de Bie, Paula Goldenberg, Bertrand Isidor, Boris Keren, Bruno Leheup, Laetitia Lampert, Cyril Mignot, Kamer Tezcan, Grazia M.S. Mancini, Caroline Nava, Melissa Wasserstein, Ange‐Line Bruel, Julien Thévenon, Alice Masurel, Yannis Duffourd, Paul Kuentz, Frédéric Huet, Jean‐Baptiste Rivière, Marjon A. van Slegtenhorst, Laurence Faivre, Amélie Piton, André Reis, Thomas Arnesen, Christel Thauvin‐Robinet, Christiane Zweier

    Publicado 2016
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  11. 11
    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation por D.L. Polla, Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman, Dmitriy Niyazov, Fleur van Dijk, Serwet Demirdas, Marjon A. van Slegtenhorst, Anneke J.A. Kievit, Céline Schulz, Linlea Armstrong, Xin Bi, Daniel J. Rader, Kosuke Izumi, Elaine H. Zackai, Elisa De Franco, Paula Jorge, Sophie C. Huffels, Marina P. Hommersom, Sian Ellard, Dirk J. Lefeber, Avni Santani, Nicholas J. Hand, Hans van Bokhoven, Miao He, Arjan P.M. de Brouwer

    Publicado 2021
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  12. 12
    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome por Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C. Herkert, Elysa J. Marco, Marjolein H. Willemsen, Tjitske Kleefstra, Mark C. Hannibal, Joseph T.C. Shieh, Sally Ann Lynch, Frances Flinter, David Fitzpatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury‐Ecob, Raphael Bernier, Malin Kvarnung, Elin Magnusson, Marja W. Wessels, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Petra de Vries, Joris A. Veltman, Christopher J. Lord, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    Publicado 2017
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  13. 13
    Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy

    Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy por Jaap I. van Waning, Kadir Çalişkan, Yvonne M. Hoedemaekers, Karin Y. van Spaendonck‐Zwarts, Annette F. Baas, S. Matthijs Boekholdt, Joost P. van Melle, Arco J. Teske, Folkert W. Asselbergs, Ad Backx, Gideon J. du Marchie Sarvaas, Michiel Dalinghaus, Johannes M. P. J. Breur, Marijke Linschoten, Laura A. Verlooij, Isabella Kardys, Dennis Dooijes, Ronald H. Lekanne Deprez, Arne IJpma, Maarten P. van den Berg, Robert M.W. Hofstra, Marjon A. van Slegtenhorst, Jan D.H. Jongbloed, Daniëlle Majoor‐Krakauer

    Publicado 2018
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  14. 14
    MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

    MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance por William B. Dobyns, Kimberly A. Aldinger, Gisele E. Ishak, Ghayda Mirzaa, Andrew E. Timms, Megan E. Grout, Marjolein H. G. Dremmen, Rachel Schot, Laura Vandervore, Marjon A. van Slegtenhorst, Martina Wilke, Esmee Kasteleijn, Arthur S. Lee, Brenda J. Barry, Katherine R. Chao, Krzysztof Szczałuba, Joyce A. Kobori, Andrea Hanson‐Kahn, Jonathan A. Bernstein, Lucinda Carr, Felice D’Arco, Kaori Miyana, Tetsuya Okazaki, Yoshiaki Saito, Masayuki Sasaki, Soma Das, Marsha M. Wheeler, Michael J. Bamshad, Deborah A. Nickerson, Elizabeth C. Engle, Frans W. Verheijen, Dan Doherty, Grazia M.S. Mancini

    Publicado 2018
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  15. 15
    Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

    Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy por Rowida Almomani, Judith M.A. Verhagen, Johanna C. Herkert, Erwin Brosens, Karin Y. van Spaendonck‐Zwarts, Angeliki Asimaki, Paul A. van der Zwaag, Ingrid M.E. Frohn-Mulder, Aida M. Bertoli‐Avella, Ludolf G. Boven, Marjon A. van Slegtenhorst, Jasper J. van der Smagt, Wilfred F. J. van IJcken, Bert Timmer, Margriet van Stuijvenberg, Robert M. Verdijk, Jeffrey E. Saffitz, Frederik A. du Plessis, Michelle Michels, Robert M.W. Hofstra, Richard J. Sinke, J. Peter van Tintelen, Marja W. Wessels, Jan D.H. Jongbloed, Ingrid M.B.H. van de Laar

    Publicado 2016
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  16. 16
    <i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

    <i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD por Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer Howe, Emanuele Agolini, Domenico Coviello, Ingrid M.B.H. van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia Pia Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoît Mazel, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Marjon A. van Slegtenhorst, Noor A. A. Giesbertz, Richard H. van Jaarsveld, Anna K. Childers, R. Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D. Buxbaum, Stephen W. Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusco

    Publicado 2022
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  17. 17
    Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

    Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities por Médéric Jeanne, Hélène Demory, Aubin Moutal, Marie‐Laure Vuillaume, Sophie Blesson, Rose‐Anne Thépault, Sylviane Marouillat, Judith Halewa, Saskia M. Maas, M. Mahdi Motazacker, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Avgi Andreou, Helene Cox, Julie A. Vogt, Jason Laufman, Natella Kostandyan, Davit Babikyan, Miroslava Hančárová, Šárka Bendová, Zdeněk Sedláček, Kimberly A. Aldinger, Elliott H. Sherr, Emanuela Argilli, Eleina England, Séverine Audebert‐Bellanger, Dominique Bonneau, Estelle Colin, Anne‐Sophie Denommé‐Pichon, Brigitte Gilbert‐Dussardier, Bertrand Isidor, Sébastien Küry, Sylvie Odent, Richard Redon, Rajesh Khanna, William B. Dobyns, Stéphane Bézieau, Jérôme Honnorat, Bernhard Lohkamp, Annick Toutain, Frédéric Laumonnier

    Publicado 2021
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  18. 18
    TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

    TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development por Geeske M. van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha Shur, Kristin Barañano, Sonal Mahida, Anna Chassevent, Allison Schreiber, Angelika Erwin, Karen W. Gripp, Fatima Rehman, Saskia Brulleman, Róisín McCormack, Gwynna Geus, Louisa Kalsner, Arthur Sorlin, Ange‐Line Bruel, David A. Koolen, Melissa K. Gabriel, Mari Rossi, David Fitzpatrick, Andrew O.M. Wilkie, Eduardo Calpena, David Johnson, Alice S. Brooks, Marjon A. van Slegtenhorst, Julie Fleischer, Daniel Groepper, Kristin Lindstrom, A. Micheil Innes, Allison Goodwin, Jennifer Humberson, Amanda Noyes, Katherine G. Langley, Aida Telegrafi, Amy Blevins, Jessica F. Hoffman, María J. Guillen Sacoto, Jane Juusola, Kristin G. Monaghan, Sumit Punj, Marleen Simon, Rolph Pfundt, Ype Elgersma, Tjitske Kleefstra

    Publicado 2021
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  19. 19
    Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

    Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy por Rafik Tadros, Sean L. Zheng, Christopher Grace, Paloma Jordà, Catherine Francis, Dominique M West, Sean J. Jurgens, Kate Thomson, Andrew R. Harper, Elizabeth Ormondroyd, Xiao Yun Xu, Pantazis Theotokis, Rachel Buchan, Kathryn A. McGurk, Francesco Mazzarotto, Beatrice Boschi, Elisabetta Pelo, Michael Lee, Michela Noseda, Amanda Varnava, Alexa M.C. Vermeer, Roddy Walsh, Ahmad S. Amin, Marjon A. van Slegtenhorst, Nicole M. Roslin, Lisa J. Strug, Erika Salvi, Chiara Lanzani, Antonio de Marvao, Jason D. Roberts, Maxime Tremblay‐Gravel, Geneviève Giraldeau, Julia Cadrin‐Tourigny, Philippe L. L’Allier, Patrick Garceau, Mario Talajic, Sarah A. Gagliano Taliun, Yigal M. Pinto, Harry Rakowski, Antonis Pantazis, Wenjia Bai, John Baksi, Brian P. Halliday, Sanjay Prasad, Paul J.R. Barton, Declan P. O’Regan, Stuart A. Cook, Rudolf A. de Boer, Imke Christiaans, Michelle Michels, Christopher M. Kramer, Carolyn Y. Ho, Stefan Neubauer, Paul M. Matthews, Arthur A.M. Wilde, Jean‐Claude Tardif, Iacopo Olivotto, Arnon Adler, Anuj Goel, James S. Ware, Connie R. Bezzina, Hugh Watkins

    Publicado 2025
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  20. 20
    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies por Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Nan Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret S. Yoon, Asbjørg Stray‐Pedersen, Jennifer E. Posey, Sarah R. Crews, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Andrea M. Lewis, V. Reid Sutton, Jill A. Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A. High, Marjon A. van Slegtenhorst, Grazia M.S. Mancini, Candice R. Finnila, Arie van Haeringen, Nicolette S. den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E. Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S. Beighley, Raphael Bernier, Sébastien Küry, Mathilde Nizon, Mark Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S. Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J. Jongmans, Bert B.A. de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K. Rojas, Kym M. Boycott, Richard Person, Rebecca Willaert, Evan E. Eichler, R. Frank Kooy, Yaping Yang, Joseph C. Wu, James R. Lupski, Thomas Arnesen, Gregory M. Cooper, Wendy K. Chung, Jozef Gécz, Holly A.F. Stessman, Linyan Meng, Gholson J. Lyon

    Publicado 2018
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