Search Results - Patrick Frosk

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  1. 1
    Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin–Ligase Gene

    Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin–Ligase Gene by Patrick Frosk, Tracey Weiler, Edward Nylen, Thangirala Sudha, Cheryl R. Greenberg, Kenneth Morgan, Takuya Fujiwara, Klaus Wrogemann

    Published 2002
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  2. 2
    The Interaction of Piasy with Trim32, an E3-Ubiquitin Ligase Mutated in Limb-girdle Muscular Dystrophy Type 2H, Promotes Piasy Degradation and Regulates UVB-induced Keratinocyte Apoptosis through NFκB

    The Interaction of Piasy with Trim32, an E3-Ubiquitin Ligase Mutated in Limb-girdle Muscular Dystrophy Type 2H, Promotes Piasy Degradation and Regulates UVB-induced Keratinocyte Ap... by Amador Albor, Sally El-Hizawi, Elizabeth J. Horn, Melanie B. Laederich, Patrick Frosk, Klaus Wrogemann, Molly Kulesz‐Martin

    Published 2006
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  3. 3
    Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2

    Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2 by Nelly Abdelfatah, Ruping Chen, Henry J. Duff, Colette Seifer, Ilan Buffo, Cathleen Huculak, Stéphanie Clarke, Robin Clegg, Davinder S. Jassal, Paul M. K. Gordon, Carole Ober, Patrick Frosk, Brenda Gerull

    Published 2019
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  4. 4
    The most common mutation inFKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations

    The most common mutation inFKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations by Patrick Frosk, Cheryl R. Greenberg, Alysa A.P. Tennese, Ryan E. Lamont, Edward Nylen, Cheryl Hirst, Danielle Frappier, Nicole M. Roslin, M Zaik, Kate Bushby, Volker Straub, Mayana Zatz, Flavia Paula, Kenneth Morgan, Takuya Fujiwara, Klaus Wrogemann

    Published 2004
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  5. 5
    A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

    A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis by Patrick Frosk, Heleen H. Arts, Julien Philippe, Carter S Gunn, Emma Brown, Bernard Chodirker, Louise R. Simard, Jacek Majewski, Somayyeh Fahiminiya, Chad Russell, Yangfan P. Liu, Robert A. Hegele, Nicholas Katsanis, Conrad Goerz, Marc R. Del Bigio, Erica E. Davis

    Published 2017
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  6. 6
    The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

    The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms by Kym M. Boycott, Philippe M. Campeau, Heather Howley, Paul Pavlidis, Sanja Rogić, Christine Oriel, Jason N. Berman, Robert M. Hamilton, Geoffrey G. Hicks, Howard D. Lipshitz, Jean–Yves Masson, Eric A. Shoubridge, Anne Junker, Michel R. Leroux, Christopher R. McMaster, Jaques L. Michaud, Stuart E. Turvey, David A. Dyment, A. Micheil Innes, Clara D. van Karnebeek, Anna Lehman, Ronald D. Cohn, Ian M. MacDonald, Richard A. Rachubinski, Patrick Frosk, Anthony Vandersteen, Richard W. Wozniak, Izabella A. Pena, Xiao‐Yan Wen, Thierry Lacaze‐Masmonteil, Catharine H. Rankin, Philip Hieter

    Published 2020
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  7. 7
    Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

    Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care by Sarah L. Sawyer, Taila Hartley, David A. Dyment, Chandree L. Beaulieu, Jeremy Schwartzentruber, Amanda Smith, H. Melanie Bedford, Geneviève Bernard, François Bernier, Bernard Brais, Dennis E. Bulman, Jodi Warman‐Chardon, David Chitayat, Johnny Deladoëy, Bridget A. Fernandez, Patrick Frosk, Michael T. Geraghty, Brenda Gerull, William T. Gibson, Robert M. Gow, Gail E. Graham, Jane S. Green, Elise Héon, Gabriella Horváth, A. Micheil Innes, Nada Jabado, Raymond H. Kim, R. K. Koenekoop, Aneal Khan, Ordan J. Lehmann, Roberto Mendoza‐Londono, Jacques L. Michaud, Sarah M. Nikkel, Lynette S. Penney, Constantin Polychronakos, Julie Richer, Guy A. Rouleau, Mark E. Samuels, Victoria Mok Siu, Oksana Suchowersky, Mark A. Tarnopolsky, Grace Yoon, Farah Zahir, Jacek Majewski, Kym M. Boycott

    Published 2015
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  8. 8
    TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

    TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone by Lijia Huang, Katarzyna Szymańska, Victor L. Jensen, Andreas Janecke, A. Micheil Innes, Erica E. Davis, Patrick Frosk, Chunmei Li, Jason R. Willer, Bernard N. Chodirker, Cheryl R. Greenberg, D. Ross McLeod, François Bernier, Albert E. Chudley, Andreas Th. Müller, Mohammad Shboul, Clare V. Logan, Catrina M. Loucks, Chandree L. Beaulieu, Rachel V. Bowie, Sandra Bell, Jonathan Adkins, Freddi I. Zuniga, Kevin D. Ross, Jian Wang, Matthew R. Ban, Christian Becker, Peter Nürnberg, Stuart Douglas, Cheryl M. Craft, Marie-Andree Akimenko, Robert A. Hegele, Carole Ober, Gerd Utermann, Hanno J. Bolz, Dennis E. Bulman, Nicholas Katsanis, Oliver E. Blacque, Dan Doherty, Jillian S. Parboosingh, Michel R. Leroux, Colin A. Johnson, Kym M. Boycott

    Published 2011
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  9. 9
    Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

    Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency by Stefano Vavassori, Janet Chou, Laura Faletti, Veronika Haunerdinger, Lennart Opitz, Pascal Joset, Christopher Fraser, Seraina Prader, Xianfei Gao, Luise A. Schuch, Matias Wagner, Julia Hoefele, Maria Elena Maccari, Ying Zhu, George Elakis, Michael T. Gabbett, Maria Forstner, Heymut Omran, Thomas Kaiser, Christina Keßler, Heike Olbrich, Patrick Frosk, Abduarahman Almutairi, Craig D. Platt, Megan Elkins, Sabrina Weeks, Tamar Rubin, Raquel Planas, Tommaso Marchetti, Danil Koovely, Verena Klämbt, Neveen A. Soliman, Sandra von Hardenberg, Christian Klemann, Ulrich Baumann, Dominic Lenz, Andreas Klein‐Franke, Martin Schwemmle, Michael Huber, Ekkehard Sturm, Steffen Hartleif, Karsten Häffner, Charlotte Gimpel, Barbara Brotschi, Guido F. Laube, Tayfun Güngör, Michael F. Buckley, Raimund Kottke, Christian Staufner, Friedhelm Hildebrandt, Simone Reu‐Hofer, Solange Moll, Achim Weber, Hundeep Kaur, Stephan Ehl, Sebastian Hiller, Raif S. Geha, Tony Roscioli, Matthias Griese, Jana Pachlopnik Schmid

    Published 2021
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  10. 10
    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder by Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong‐Hee Chae, Murim Choi, Karine Siquier-Pernet, Vincent Cantagrel, Jeanne Amiel, Elliot Stolerman, Sarah Barnett, Margot A. Cousin, Diana Castro, Kimberly S. McDonald, Brian Kirmse, Andrea H. Németh, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle C. Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, I. Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja Kristine Selmer, Roser Urreizti, A. García Oguiza, A. Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah McCurry, John E. Landers, Sameer Agnihotri, Elena Corina Andriescu, Shade Moody, Chanika Phornphutkul, María J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik–Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey

    Published 2021
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  11. 11
    An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

    An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes by Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans, Katarzyna Szymańska, Thanh-Minh T. Nguyen, Hilary Racher, Ian G. Phelps, Grischa Toedt, Julie Kennedy, Kirsten A Wunderlich, Nasrin Sorusch, Zakia A. Abdelhamed, Subaashini Natarajan, Warren Herridge, Jeroen van Reeuwijk, Nicola Horn, Karsten Boldt, David Parry, Stef J.F. Letteboer, Susanne Roosing, Matthew Adams, Sandra Bell, Jacquelyn Bond, J. William Higgins, Ewan E. Morrison, Darren C. Tomlinson, Gisela G. Slaats, Teunis J. P. van Dam, Lijia Huang, Kristin Kessler, Andreas Gießl, Clare V. Logan, Evan A. Boyle, Jay Shendure, Shamsa Anazi, Mohammed A. Aldahmesh, Selwa Al Hazzaa, Robert A. Hegele, Carole Ober, Patrick Frosk, Aizeddin Mhanni, Bernard N. Chodirker, Albert E. Chudley, Ryan E. Lamont, François Bernier, Chandree L. Beaulieu, Paul M. Gordon, Richard T. Pon, Clem Donahue, A. James Barkovich, Louis Wolf, Carmel Toomes, Christian T. Thiel, Kym M. Boycott, Martin McKibbin, Chris F. Inglehearn, Fiona Stewart, Heymut Omran, Martijn A. Huynen, Panagiotis I. Sergouniotis, Fowzan S. Alkuraya, Jillian S. Parboosingh, A. Micheil Innes, Colin E. Willoughby, Rachel H. Giles, Andrew R. Webster, Marius Ueffing, Oliver E. Blacque, Joseph G. Gleeson, Uwe Wolfrum, Philip L. Beales, Toby J. Gibson, Dan Doherty, Hannah M. Mitchison, Ronald Roepman, Colin A. Johnson

    Published 2015
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