Resultats de la cerca - Marjon van Slegtenhorst

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  1. 1
    Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

    Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products per Marjon van Slegtenhorst

    Publicat 1998
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  2. 2
    Tsc1+ and tsc2+ Regulate Arginine Uptake and Metabolism in Schizosaccharomyces pombe

    Tsc1+ and tsc2+ Regulate Arginine Uptake and Metabolism in Schizosaccharomyces pombe per Marjon van Slegtenhorst, Erikka Lynnette Carr, Radka Stoyanova, Warren D. Kruger, Elizabeth P. Henske

    Publicat 2004
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  3. 3
    The Birt-Hogg-Dube and Tuberous Sclerosis Complex Homologs Have Opposing Roles in Amino Acid Homeostasis in Schizosaccharomyces pombe

    The Birt-Hogg-Dube and Tuberous Sclerosis Complex Homologs Have Opposing Roles in Amino Acid Homeostasis in Schizosaccharomyces pombe per Marjon van Slegtenhorst, Damir Khabibullin, Tiffiney R. Hartman, Émmanuelle Nicolas, Warren D. Kruger, Elizabeth P. Henske

    Publicat 2007
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  4. 4
    EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

    EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias per Jesse B.G. Hayesmoore, Zahurul A. Bhuiyan, Domenico Coviello, Desirée du Sart, Matthew Edwards, Maria Iascone, Deborah Morris‐Rosendahl, Katie Sheils, Marjon van Slegtenhorst, Kate Thomson

    Publicat 2023
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  5. 5
    Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

    Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation per Marjon van Slegtenhorst, Senno Verhoef, A.M.P. Tempelaars, Lida Bakker, Qi Wang, Marja W. Wessels, Remco Bakker, Mark Nellist, Dick Lindhout, Dicky Halley, Ans van den Ouweland

    Publicat 1999
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  6. 6
    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis per Francesca Mattioli, Élise Schaefer, Alex Magee, Paul R. Mark, Grazia M.S. Mancini, Klaus Dieterich, Gretchen Von Allmen, Mariëlle Alders, Charles Coutton, Marjon van Slegtenhorst, Gaëlle Vieville, Marc Engelen, Jan Maarten Cobben, Jane Juusola, Aurora Pujol, Jean‐Louis Mandel, Amélie Piton

    Publicat 2016
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  7. 7
    Contractile Dysfunction Irrespective of the Mutant Protein in Human Hypertrophic Cardiomyopathy With Normal Systolic Function

    Contractile Dysfunction Irrespective of the Mutant Protein in Human Hypertrophic Cardiomyopathy With Normal Systolic Function per Sabine J. van Dijk, E. Rosalie Paalberends, Aref Najafi, Michelle Michels, Sakthivel Sadayappan, Lucie Carrier, Nicky M. Boontje, Diederik W.D. Kuster, Marjon van Slegtenhorst, Dennis Dooijes, Cristobal G. dos Remedios, Folkert J. ten Cate, Ger J.M. Stienen, Jolanda van der Velden

    Publicat 2011
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  8. 8
    Sex Differences at the Time of Myectomy in Hypertrophic Cardiomyopathy

    Sex Differences at the Time of Myectomy in Hypertrophic Cardiomyopathy per Louise L.A.M. Nijenkamp, Ilse A. E. Bollen, Hannah G. van Velzen, Jessica A. Regan, Marjon van Slegtenhorst, Hans W.M. Niessen, Arend F. L. Schinkel, Martina Krüger, Corrado Poggesi, Carolyn Y. Ho, Diederik W.D. Kuster, Michelle Michels, Jolanda van der Velden

    Publicat 2018
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  9. 9
    A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study

    A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study per Monique L. den Boer, Marjon van Slegtenhorst, Renée X. de Menezes, Meyling Cheok, Jessica GCAM Buijs-Gladdines, Susan T.C.J.M. Peters, Laura JCM Van Zutven, H. Berna Beverloo, Peter J. van der Spek, G. Escherich, Martin A. Horstmann, Gritta Janka‐Schaub, Willem A. Kamps, William E. Evans, Rob Pieters

    Publicat 2009
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  10. 10
    Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

    Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy per 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

    Publicat 2011
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  11. 11
    Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy

    Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy per E. Rosalie Witjas‐Paalberends, Nicoletta Piroddi, Kelly Stam, Sabine J. van Dijk, Vasco Sequeira, Claudia Ferrara, Beatrice Scellini, Mark R. Hazebroek, Folkert J. ten Cate, Marjon van Slegtenhorst, Cristobal G. dos Remedios, Hans W.M. Niessen, Chiara Tesi, Ger J.M. Stienen, Stéphane Heymans, Michelle Michels, Corrado Poggesi, Jolanda van der Velden

    Publicat 2013
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  12. 12
    Human mutations in integrator complex subunits link transcriptome integrity to brain development

    Human mutations in integrator complex subunits link transcriptome integrity to brain development per Renske Oegema, David Baillat, Rachel Schot, Leontine van Unen, Alice Brooks, Sima Kheradmand Kia, A. Jeannette M. Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H. Lequin, Marjon van Slegtenhorst, William B. Dobyns, I.F.M. de Coo, Frans W. Verheijen, Andreas Kremer, Peter J. van der Spek, Daphne Heijsman, Eric J. Wagner, Maarten Fornerod, Grazia M.S. Mancini

    Publicat 2017
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  13. 13
    De novo <i>TRPV4</i> Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

    De novo <i>TRPV4</i> Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy per Aviël Ragamin, Carolina Cavaliéri Gomes, Karen Bindels‐de Heus, Renata Lazari Sandoval, Angelia V. Bassenden, Luciano Lauria Dib, Fernando Kok, Julieta Goncalves Silva Macedo Alves, Irene M.J. Mathijssen, Evita Medici-van den Herik, Robert Eveleigh, Tenzin Gayden, Bas Pullens, Albert M. Berghuis, Marjon van Slegtenhorst, Martina Wilke, Nada Jabado, Grazia M.S. Mancini, Ricardo Santiago Gomez

    Publicat 2021
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  14. 14
    Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

    Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails per Molly E. Kuo, Arjan F. Theil, Anneke J.A. Kievit, May Christine V. Malicdan, Wendy J. Introne, Thomas Christian, Frans W. Verheijen, Desirée E.C. Smith, Marisa I. Mendes, Lidia Hussaarts-Odijk, Eric van der Meijden, Marjon van Slegtenhorst, Martina Wilke, Wim Vermeulen, Anja Raams, Catherine Groden, Shino Shimada, Rebecca Meyer‐Schuman, Ya‐Ming Hou, William A. Gahl, Anthony Antonellis, Gajja S. Salomons, Grazia M.S. Mancini

    Publicat 2019
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  15. 15
    ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

    ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder per Lewis Williams, Asif Javed, Amin Sabri, Denise J. Morgan, Chad Huff, John Grigg, Xiu Ting Heng, Alexis Jiaying Khng, Iris H.I.M. Hollink, Margaux A. Morrison, Leah A. Owen, Katherine Anderson, Krista Kinard, Rebecca Greenlees, Danica Novacic, Sen Hou, Wadih M. Zein, George M. Rodgers, Albert T. Vitale, Neena B. Haider, Axel M. Hillmer, Pauline C. Ng, Shankaracharya, Anson Cheng, Linda Zheng, Mark C. Gillies, Marjon van Slegtenhorst, P. Martin van Hagen, Tom Missotten, Gary L. Farley, Michael Polo, J. Jeffrey Malatack, Julie Curtin, Frank Martin, Susan Arbuckle, Stephen I. Alexander, Megan Chircop, Sonia Dávila, Kathleen B. Digre, Robyn V. Jamieson, Margaret M. DeAngelis

    Publicat 2019
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  16. 16
    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy per Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B. McKenzie, Anita Datta, Mary Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M. Friedman, Matthew J. Farrer, Michelle Demos, Sonal Desai, Tom W. Claydon, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Sarah E. Buerki, Tara Candido, Patrice Eydoux, Daniel M. Evans, William T. Gibson, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Tamsin Tarling, Eric Toyota, Katelin N. Townsend, Margot I. Van Allen, Clara van Karnebeek, Suzanne Vercauteren

    Publicat 2017
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  17. 17
    Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature

    Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature per Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert, Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, Christel Depienne, Milda Endzinienė, Carlos R. Ferreira, Carolina Fischinger Moura de Souza, Cécile Freihuber, Shiva Ganesan, Svetlana Gataullina, Renzo Guerrini, Anne‐Marie Guerrot, Lars Hestbjerg Hansen, Aleksandra Jezela‐Stanek, C. Karsenty, Anneke Kievit, R. Frank Kooy, Christian Korff, Johanne Kragh Hansen, Martin J. Larsen, Valérie Layet, Gaëtan Lesca, Kim L. McBride, Marije Meuwissen, Cyril Mignot, Martino Montomoli, Hannah W. Moore, Sophie Naudion, Caroline Nava, Marie‐Christine Nouguès, Elena Parrini, Matthew Pastore, Jurgen Schelhaas, Steven A. Skinner, Krzysztof Szczałuba, Ashley Thomas, Mads Thomassen, Lisbeth Tranebjærg, Marjon van Slegtenhorst, Lynne A. Wolfe, Dennis Lal, Elena Gardella, Lilian Bomme Ousager, Tobias Brünger, Ingo Helbig, Peter Krawitz, Rikke S. Møller

    Publicat 2020
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  18. 18
    BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

    BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms per Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia, Berrak Uğur, Jeremy Wegner, Tiana M. Scott, Brett Bostwick, David R. Murdock, Hongzheng Dai, Elena Perenthaler, Anita Nikoncuk, Marjon van Slegtenhorst, Alice S. Brooks, Boris Keren, Caroline Nava, Cyril Mignot, Jessica Douglas, Lance H. Rodan, C. Nowak, Sian Ellard, Karen Stals, Sally Ann Lynch, Marie Faoucher, Gaëtan Lesca, Patrick Edery, Kendra Engleman, Dihong Zhou, Isabelle Thiffault, John Herriges, Jennifer Gass, Raymond J. Louie, Elliot Stolerman, Camerun Washington, Francesco Vetrini, Aiko Iwata‐Otsubo, Victoria M. Pratt, Erin Conboy, Kayla Treat, Nora Shannon, Jose A. Camacho, Emma Wakeling, Bo Yuan, Chun‐An Chen, Jill A. Rosenfeld, Monte Westerfield, Michael F. Wangler, Shinya Yamamoto, Cigall Kadoch, Daryl A. Scott, Hugo J. Bellen

    Publicat 2020
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  19. 19
    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis per Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein H. G. Dremmen, Marie‐Claire Y. de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez‐Herrera, Amal Alhashem, Ahmed Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer, Jeroen Demmers, Frans W. Verheijen, Martina Wilke, Marjon van Slegtenhorst, Peter J. van der Spek, Marco Seri, Anna Jansen, Rolf W. Stottmann, Robert B. Hufnagel, Robert J. Hopkin, Deema Aljeaid, Wojciech Wiszniewski, Paweł Gawliński, Milena Laure‐Kamionowska, Fowzan S. Alkuraya, Hanah Akleh, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Maha S. Zaki, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Bella Davidov, Lina Basel‐Vanagaite, Lily Bazak, Noa Ruhrman‐Shahar, Aida M. Bertoli‐Avella, Ghayda Mirzaa, William B. Dobyns, Tommaso Pippucci, Maarten Fornerod, Grazia M.S. Mancini

    Publicat 2019
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  20. 20
    AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

    AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model per Ruizhi Deng, Eva Medico Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Čapo, Evita Medici‐ van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy L. Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed A. AlMuhaizea, Dilek Çolak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli‐Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Y. Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat

    Publicat 2023
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