Výsledky vyhledávání - George C. Gabriel

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  1. 1
    Role of cilia in the pathogenesis of congenital heart disease

    Role of cilia in the pathogenesis of congenital heart disease Autor George C. Gabriel, Cullen B. Young, Cecilia Lo

    Vydáno 2020
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  2. 2
    The Genetic Landscape of Hypoplastic Left Heart Syndrome

    The Genetic Landscape of Hypoplastic Left Heart Syndrome Autor Hisato Yagi, Xiaoqin Liu, George C. Gabriel, Yijen Wu, Kevin A. Peterson, Stephen A. Murray, Bruce J. Aronow, Lisa J. Martin, D. Woodrow Benson, Cecilia Lo

    Vydáno 2018
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  3. 3
    <i>Prickle1</i>mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects

    <i>Prickle1</i>mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects Autor Brian Gibbs, Rama Rao Damerla, Eszter K. Vladar, Bishwanath Chatterjee, Yong Wan, Xiaoqin Liu, Cheng Cui, George C. Gabriel, Maliha Zahid, Hisato Yagi, Heather L. Szabo‐Rogers, Kaye Suyama, Jeffrey D. Axelrod, Cecilia W. Lo

    Vydáno 2016
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  4. 4
    Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies

    Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies Autor Rama Rao Damerla, Cheng Cui, George C. Gabriel, Xiaoqin Liu, Branch Craige, Brian Gibbs, Richard Francis, You Li, Bishwanath Chatterjee, Jovenal T. San Agustin, Thibaut Eguether, Ramiah Subramanian, George B. Witman, Jacques L. Michaud, Gregory J. Pazour, Cecilia Lo

    Vydáno 2015
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  5. 5
    ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning

    ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning Autor Peter G. Czarnecki, George C. Gabriel, Danielle K. Manning, Mikhail Sergeev, Kristi Lemke, Nikolai Klena, Xiaoqin Liu, Yu Chen, You Li, Jovenal T. San Agustin, Maija Garnaas, Richard Francis, Kimimasa Tobita, Wolfram Goessling, Gregory J. Pazour, Cecilia Lo, David R. Beier, Jagesh V. Shah

    Vydáno 2015
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  6. 6
    Global genetic analysis in mice unveils central role for cilia in congenital heart disease

    Global genetic analysis in mice unveils central role for cilia in congenital heart disease Autor You Li, Nikolai Klena, George C. Gabriel, Xiaoqin Liu, Andrew J. Kim, Kristi Lemke, Yu Chen, Bishwanath Chatterjee, William A. Devine, Rama Rao Damerla, Chien-fu Chang, Hisato Yagi, Jovenal T. San Agustin, Thahir Mohamed, Shane Anderton, Caroline Lawhead, Anita Vescovi, C. Herbert Pratt, Judy Morgan, Leslie Haynes, Cynthia L. Smith, Janan T. Eppig, Laura G. Reinholdt, Richard Francis, Linda Leatherbury, Madhavi K. Ganapathiraju, Kimimasa Tobita, Gregory J. Pazour, Cecilia Lo

    Vydáno 2015
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  7. 7
    The complex genetics of hypoplastic left heart syndrome

    The complex genetics of hypoplastic left heart syndrome Autor Xiaoqin Liu, Hisato Yagi, Shazina Saeed, Abha Bais, George C. Gabriel, Zhaohan Chen, Kevin A. Peterson, You Li, Molly Schwartz, William Reynolds, Manush Saydmohammed, Brian Gibbs, Yijen Wu, William Devine, Bishwanath Chatterjee, Nikolai Klena, Dennis Kostka, Karen L. de Mesy Bentley, Madhavi K. Ganapathiraju, Phillip J. Dexheimer, Linda Leatherbury, Omar Khalifa, Anchit Bhagat, Maliha Zahid, William T. Pu, Simon C. Watkins, Paul Grossfeld, Stephen A. Murray, George A. Porter, Michael Tsang, Lisa J. Martin, D. Woodrow Benson, Bruce J. Aronow, Cecilia Lo

    Vydáno 2017
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  8. 8
    MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

    MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates Autor Anne Guimier, George C. Gabriel, Fanny Bajolle, Michael Tsang, Hui Liu, Aaron Noll, Molly Schwartz, Rajae El Malti, Laurie D. Smith, Nikolai Klena, Gina Jimenez, Neil Miller, Myriam Oufadem, Anne Moreau de Bellaing, Hisato Yagi, Carol Saunders, Candice N. Baker, Sylvie Di Filippo, Kevin A. Peterson, Isabelle Thiffault, Christine Bôle‐Feysot, Linda D. Cooley, Emily Farrow, Cécile Masson, Patric Schoen, Jean‐François Deleuze, Patrick Nitschké, Stanislas Lyonnet, Loïc de Pontual, Stephen A. Murray, Damien Bonnet, Stephen F. Kingsmore, Jeanne Amiel, Patrice Bouvagnet, Cecilia Lo, Christopher T. Gordon

    Vydáno 2015
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  9. 9
    CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

    CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation Autor Rim Hjeij, Alexandros Onoufriadis, Christopher M. Watson, Christopher E. Slagle, Nikolai Klena, Gerard W. Dougherty, Małgorzata Kurkowiak, Niki T. Loges, Christine P. Diggle, Nicholas Morante, George C. Gabriel, Kristi Lemke, You Li, Petra Pennekamp, Tabea Menchen, Franziska Konert, June K. Marthin, Dorus A. Mans, Stef J.F. Letteboer, Claudius Werner, Thomas Burgoyne, Cordula Westermann, Andrew Rutman, Ian Carr, Christopher O’Callaghan, Eduardo Moya, Eddie M.K. Chung, Eamonn Sheridan, Kim G. Nielsen, Ronald Roepman, Kerstin Bartscherer, Rebecca D. Burdine, Cecilia Lo, Heymut Omran, Hannah M. Mitchison

    Vydáno 2014
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  10. 10
    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families Autor Nadia Akawi, Jeremy F. McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F. Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas Fitzgerald, Nicola Foulds, Richard Francis, George C. Gabriel, Sebastian S. Gerety, Judith Goodship, Emma Hobson, Wendy D. Jones, Shelagh Joss, Daniel A. King, Nikolai Klena, Ajith Kumar, Melissa Lees, Chris Lelliott, Jenny Lord, Dominic McMullan, Mary O’Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, G. Jawahar Swaminathan, Peter D. Turnpenny, James W. Whitworth, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Cecilia Lo, David Fitzpatrick, Matthew E. Hurles

    Vydáno 2015
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  11. 11
    DYX1C1 is required for axonemal dynein assembly and ciliary motility

    DYX1C1 is required for axonemal dynein assembly and ciliary motility Autor Aarti Tarkar, Niki T. Loges, Christopher E. Slagle, Richard Francis, Gerard W. Dougherty, Joel V Tamayo, Brett A. Shook, Marie E. Cantino, Daniel Schwartz, Charlotte Jahnke, Heike Olbrich, Claudius Werner, Johanna Raidt, Petra Pennekamp, Marouan Abouhamed, Rim Hjeij, Gabriele Köhler, Matthias Griese, You Li, Kristi Lemke, Nikolai Klena, Xiaoqin Liu, George C. Gabriel, Kimimasa Tobita, Martine Jaspers, Lucy Morgan, Adam J. Shapiro, Stef J.F. Letteboer, Dorus A. Mans, Johnny L. Carson, Margaret W. Leigh, Whitney Wolf, Serafine Chen, Jane S. Lucas, Alexandros Onoufriadis, Vincent Plagnol, Miriam Schmidts, Karsten Boldt, Ronald Roepman, Maimoona A. Zariwala, Cecilia W. Lo, Hannah M. Mitchison, Michael R. Knowles, Rebecca D. Burdine, Joseph J. LoTurco, Heymut Omran

    Vydáno 2013
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  12. 12
    Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

    Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6 Autor Bram P. Prins, Timothy J. Mead, Jennifer A. Brody, Garðar Sveinbjörnsson, Ιωάννα Ντάλλα, Nathan A. Bihlmeyer, Marten van den Berg, Jette Bork‐Jensen, Stefania Cappellani, Stefan van Duijvenboden, Nikolai Klena, George C. Gabriel, Xiaoqin Liu, Çağrı Güleç, Niels Grarup, Jeffrey Haessler, Leanne M. Hall, Alfonso Iorio, Aaron Isaacs, Ruifang Li‐Gao, Honghuang Lin, Yongmei Liu, Leo‐Pekka Lyytikäinen, Jonathan Marten, Hao Mei, Martina Müller‐Nurasyid, Michele Orini, Sandosh Padmanabhan, Farid Radmanesh, Julia Ramírez, Antonietta Robino, Molly Schwartz, Jessica van Setten, Albert V. Smith, Niek Verweij, Helen R. Warren, Stefan Weiß, Álvaro Alonso, Davíð O. Arnar, Michiel L. Bots, Rudolf A. de Boer, Anna F. Dominiczak, Mark Eijgelsheim, Patrick T. Ellinor, Xiuqing Guo, Stephan B. Felix, Tamara B. Harris, Caroline Hayward, Susan R. Heckbert, Paul L. Huang, J. Wouter Jukema, Mika Kähönen, Jan A. Kors, Pier D. Lambiase, Lenore J. Launer, Man Li, Allan Linneberg, Christopher P. Nelson, Oluf Pedersen, Marco Pérez, Annette Peters, Ozren Polašek, Bruce M. Psaty, Olli T. Raitakari, Kenneth Rice, Jerome I. Rotter, Moritz F. Sinner, Elsayed Z. Soliman, Tim D. Spector, Konstantin Strauch, Unnur Þorsteinsdóttir, Andrew Tinker, Stella Trompet, André G. Uitterlinden, Ilonca Vaartjes, Peter van der Meer, Uwe Völker, Henry Völzke, Mélanie Waldenberger, James Wilson, Zhijun Xie, Folkert W. Asselbergs, Marcus Dörr, Cornelia M. van Duijn, Paolo Gasparini, Daníel F. Guðbjartsson, Vilmundur Guðnason, Torben Hansen, Stefan Kääb, Jørgen K. Kanters, Charles Kooperberg, Terho Lehtimäki, Henry J. Lin, Steven A. Lubitz, Dennis O. Mook‐Kanamori, Francesco J. Conti, Christopher Newton‐Cheh, Jonathan Rosand, Igor Rudan, Nilesh J. Samani

    Vydáno 2018
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