Results 131 to 140 of about 12,198 (227)
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
, 2009 Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati, Marina V. Kisseleva, Lihadh Al‐Gazali, László Sztriha, Riad Bayoumi, Maha S. Zaki, Alice Abdel Aleem, Rasim Özgür Rosti, Hülya Kayserili, Dominika Swistun, Lesley C. Scott, Enrico Bertini, Eugen Boltshauser, Elisa Fazzi, Lorena Travaglini, Seth J. Field, Stéphanie Gayral, Monique Jacoby, Stéphane Schurmans, Bruno Dallapiccola, Philip W. Majerus, Enza Maria Valente, Joseph G. Gleeson +24 moreopenalex +2 more sourcesKOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies [PDF]
, 2015 Marijn Stokman, Machteld M. Oud, Jeroen van Reeuwijk, Marc R. Liliën, Nicole C. A. J. van de Kar, Isaäc J. Nijman, Christian Gilissen, HY Kroes, Ernie M.H.F. Bongers, Niels Geijsen, Erik‐Jan Kamsteeg, Edwin Cuppen, Ronald Roepman, Rachel H. Giles, Kirsten Y. Renkema, Heleen H. Arts, Nine Knoers +16 moreopenalex +1 more sourceAn siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes [PDF]
, 2015 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 +75 moreopenalex +1 more sourceMutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome [PDF]
, 2015 Caroline Alby, Kevin Piquand, Céline Huber, André Megarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi Tayeh, Bettina Bessières, Salima El Chehadeh-Djebbar, Nicole Laurent, Laurence Faivre, László Sztriha, Melinda Zombor, Hajnalka Szabó, Marion Failler, Meriem Garfa-Traoré, Christine Bole, Patrick Nitschké, Mathilde Nizon, Nadia Elkhartoufi, Françoise Clerget‐Darpoux, Arnold Münnich, Stanislas Lyonnet, Michel Vekemans, Sophie Saunier, Valérie Cormier‐Daire, Tania Attié‐Bitach, Sophie Thomas +29 moreopenalex +1 more sourceMutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy [PDF]
, 2015 Isabelle Perrault, Jan Halbritter, Jonathan D. Porath, Xavier Gérard, Daniela A. Braun, Heon Yung Gee, Hanan Fathy, Sophie Saunier, Valérie Cormier‐Daire, Sophie Thomas, Tania Attié‐Bitach, Nathalie Boddaert, Michael J. Taschner, Markus Schueler, Esben Lorentzen, Richard P. Lifton, Edgar A. Otto, Philippe Bastin, Josseline Kaplan, Friedhelm Hildebrandt, Jean‐Michel Rozet +20 moreopenalex +1 more source
