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Items: 1 to 20 of 477

1.
ERS Task Force guideline for the diagnosis of primary ciliary dyskinesia
JS Lucas, A Barbato, SA Collins, M Goutaki, L Behan, D Caudri, S Dell, E Eber, E Escudier, RA Hirst, C Hogg, M Jorissen, P Latzin, M Legendre, MW Leigh, F Midulla, KG Nielsen, H Omran, JF Papon, P Pohunek, B Redfern, D Rigau, B Rindlisbacher, F Santamaria, A Shoemark, D Snijders, T Tonia, A Titieni, WT Walker, C Werner, A Bush, CE Kuehni
Eur Respir J. Author manuscript; available in PMC 2018 Jul 20.
Published in final edited form as: Eur Respir J. 2017 Jan; 49(1): 1601090. Published online 2017 Jan 4. doi: 10.1183/13993003.01090-2016
PMCID:
PMC6054534
AbstractArticlePDF–932K
2.
Ciliopathies: The Trafficking Connection
Kayalvizhi Madhivanan, R. Claudio Aguilar
Traffic. Author manuscript; available in PMC 2015 Oct 1.
Published in final edited form as: Traffic. 2014 Oct; 15(10): 1031–1056. Published online 2014 Aug 11. doi: 10.1111/tra.12195
PMCID:
PMC4167927
AbstractArticlePDF–1.1M
3.
Multiple Renal Cyst Development but Not Situs Abnormalities in Transgenic RNAi Mice against Inv::GFP Rescue Gene
Yuki Kamijho, Yayoi Shiozaki, Eiki Sakurai, Kazunori Hanaoka, Daisuke Watanabe
PLoS One. 2014; 9(2): e89652. Published online 2014 Feb 24. doi: 10.1371/journal.pone.0089652
PMCID:
PMC3933642
AbstractArticlePDF–1.8M
4.
Culture of Primary Ciliary Dyskinesia Epithelial Cells at Air-Liquid Interface Can Alter Ciliary Phenotype but Remains a Robust and Informative Diagnostic Aid
Robert A. Hirst, Claire L. Jackson, Janice L. Coles, Gwyneth Williams, Andrew Rutman, Patricia M. Goggin, Elizabeth C. Adam, Anthony Page, Hazel J. Evans, Peter M. Lackie, Christopher O’Callaghan, Jane S. Lucas
PLoS One. 2014; 9(2): e89675. Published online 2014 Feb 25. doi: 10.1371/journal.pone.0089675
PMCID:
PMC3934921
AbstractArticlePDF–1.0M
5.
Picking up speed: advances in the genetics of primary ciliary dyskinesia
Amjad Horani, Steven L Brody, Thomas W Ferkol
Pediatr Res. Author manuscript; available in PMC 2014 Jul 1.
Published in final edited form as: Pediatr Res. 2014 Jan; 75(0): 158–164. Published online 2013 Nov 5. doi: 10.1038/pr.2013.200
PMCID:
PMC3946436
AbstractArticlePDF–361K
6.
Standardizing Nasal Nitric Oxide Measurement as a Test for Primary Ciliary Dyskinesia
Margaret W. Leigh, Milan J. Hazucha, Kunal K. Chawla, Brock R. Baker, Adam J. Shapiro, David E. Brown, Lisa M. LaVange, Bethany J. Horton, Bahjat Qaqish, Johnny L. Carson, Stephanie D. Davis, Sharon D. Dell, Thomas W. Ferkol, Jeffrey J. Atkinson, Kenneth N. Olivier, Scott D. Sagel, Margaret Rosenfeld, Carlos Milla, Hye-Seung Lee, Jeffrey Krischer, Maimoona A. Zariwala, Michael R. Knowles, the Genetic Disorders of Mucociliary Clearance Consortium
Ann Am Thorac Soc. 2013 Dec; 10(6): 574–581. doi: 10.1513/AnnalsATS.201305-110OC
PMCID:
PMC3960971
AbstractArticlePDF–519K
7.
sept7b is essential for pronephric function and development of left–right asymmetry in zebrafish embryogenesis
Surjya Narayan Dash, Eero Lehtonen, Anita A. Wasik, Antonino Schepis, Jere Paavola, Pertti Panula, W. James Nelson, Sanna Lehtonen
J Cell Sci. 2014 Apr 1; 127(7): 1476–1486. doi: 10.1242/jcs.138495
PMCID:
PMC3970559
AbstractArticle
8.
hemingway is required for sperm flagella assembly and ciliary motility in Drosophila
Fabien Soulavie, David Piepenbrock, Joëlle Thomas, Jennifer Vieillard, Jean-Luc Duteyrat, Elisabeth Cortier, Anne Laurençon, Martin C. Göpfert, Bénédicte Durand
Mol Biol Cell. 2014 Apr 15; 25(8): 1276–1286. doi: 10.1091/mbc.E13-10-0616
PMCID:
PMC3982993
AbstractArticlePDF–3.5M
9.
Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype
Michael R. Knowles, Lawrence E. Ostrowski, Margaret W. Leigh, Patrick R. Sears, Stephanie D. Davis, Whitney E. Wolf, Milan J. Hazucha, Johnny L. Carson, Kenneth N. Olivier, Scott D. Sagel, Margaret Rosenfeld, Thomas W. Ferkol, Sharon D. Dell, Carlos E. Milla, Scott H. Randell, Weining Yin, Aruna Sannuti, Hilda M. Metjian, Peadar G. Noone, Peter J. Noone, Christina A. Olson, Michael V. Patrone, Hong Dang, Hye-Seung Lee, Toby W. Hurd, Heon Yung Gee, Edgar A. Otto, Jan Halbritter, Stefan Kohl, Martin Kircher, Jeffrey Krischer, Michael J. Bamshad, Deborah A. Nickerson, Friedhelm Hildebrandt, Jay Shendure, Maimoona A. Zariwala
Am J Respir Crit Care Med. 2014 Mar 15; 189(6): 707–717. Published online 2014 Mar 15. doi: 10.1164/rccm.201311-2047OC
PMCID:
PMC3983840
AbstractArticlePDF–1.3M
10.
The Role of Molecular Genetic Analysis in the Diagnosis of Primary Ciliary Dyskinesia
Raymond H. Kim, David A. Hall, Ernest Cutz, Michael R. Knowles, Kathleen A. Nelligan, Keith Nykamp, Maimoona A. Zariwala, Sharon D. Dell
Ann Am Thorac Soc. 2014 Mar; 11(3): 351–359. doi: 10.1513/AnnalsATS.201306-194OC
PMCID:
PMC4028737
AbstractArticlePDF–496K
11.
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects
Alexandros Onoufriadis, Amelia Shoemark, Miriam Schmidts, Mitali Patel, Gina Jimenez, Hui Liu, Biju Thomas, Mellisa Dixon, Robert A. Hirst, Andrew Rutman, Thomas Burgoyne, Christopher Williams, Juliet Scully, Florence Bolard, Jean-Jacques Lafitte, Philip L. Beales, Claire Hogg, Pinfen Yang, Eddie M.K. Chung, Richard D. Emes, Christopher O'Callaghan, UK10K, Patrice Bouvagnet, Hannah M. Mitchison
Hum Mol Genet. 2014 Jul 1; 23(13): 3362–3374. Published online 2014 Feb 11. doi: 10.1093/hmg/ddu046
PMCID:
PMC4049301
AbstractArticlePDF–1.1M
12.
miR-34/449 miRNAs are required for motile ciliogenesis by repressing cp110
Rui Song, Peter Walentek, Nicole Sponer, Alexander Klimke, Joon Sub Lee, Gary Dixon, Richard Harland, Ying Wan, Polina Lishko, Muriel Lize, Michael Kessel, Lin He
Nature. Author manuscript; available in PMC 2014 Dec 5.
Published in final edited form as: Nature. 2014 Jun 5; 510(7503): 115–120. doi: 10.1038/nature13413
PMCID:
PMC4119886
AbstractArticlePDF–3.3M
13.
Restoring ciliary function to differentiated Primary Ciliary Dyskinesia cells with a lentiviral vector
Lawrence E Ostrowski, Weining Yin, Manij Patel, John Sechelski, Troy Rogers, Kimberlie Burns, Barbara R Grubb, John C Olsen
Gene Ther. Author manuscript; available in PMC 2014 Sep 1.
Published in final edited form as: Gene Ther. 2014 Mar; 21(3): 253–261. Published online 2014 Jan 23. doi: 10.1038/gt.2013.79
PMCID:
PMC4124007
AbstractArticlePDF–1.0M
14.
Diagnosis and management of primary ciliary dyskinesia
Jane S Lucas, Andrea Burgess, Hannah M Mitchison, Eduardo Moya, Michael Williamson, Claire Hogg
Arch Dis Child. 2014 Sep; 99(9): 850–856. Published online 2014 Apr 25. doi: 10.1136/archdischild-2013-304831
PMCID:
PMC4145427
AbstractArticlePDF–2.0M
15.
CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
Rim Hjeij, Alexandros Onoufriadis, Christopher M. Watson, Christopher E. Slagle, Nikolai T. Klena, Gerard W. Dougherty, Małgorzata Kurkowiak, Niki T. Loges, Christine P. Diggle, Nicholas F.C. Morante, George C. Gabriel, Kristi L. Lemke, You Li, Petra Pennekamp, Tabea Menchen, Franziska Konert, June Kehlet Marthin, Dorus A. Mans, Stef J.F. Letteboer, Claudius Werner, Thomas Burgoyne, Cordula Westermann, Andrew Rutman, Ian M. Carr, Christopher O’Callaghan, Eduardo Moya, Eddie M.K. Chung, UK10K Consortium, Eamonn Sheridan, Kim G. Nielsen, Ronald Roepman, Kerstin Bartscherer, Rebecca D. Burdine, Cecilia W. Lo, Heymut Omran, Hannah M. Mitchison
Am J Hum Genet. 2014 Sep 4; 95(3): 257–274. doi: 10.1016/j.ajhg.2014.08.005
PMCID:
PMC4157146
AbstractArticlePDF–3.2M
16.
Loss of FTO Antagonises Wnt Signaling and Leads to Developmental Defects Associated with Ciliopathies
Daniel P. S. Osborn, Rosa Maria Roccasecca, Fiona McMurray, Victor Hernandez-Hernandez, Sriparna Mukherjee, Inês Barroso, Derek Stemple, Roger Cox, Philip L. Beales, Sonia Christou-Savina
PLoS One. 2014; 9(2): e87662. Published online 2014 Feb 4. doi: 10.1371/journal.pone.0087662
PMCID:
PMC3913654
AbstractArticlePDF–2.6M
17.
HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus
Christine P. Diggle, Daniel J. Moore, Girish Mali, Petra zur Lage, Aouatef Ait-Lounis, Miriam Schmidts, Amelia Shoemark, Amaya Garcia Munoz, Mihail R. Halachev, Philippe Gautier, Patricia L. Yeyati, David T. Bonthron, Ian M. Carr, Bruce Hayward, Alexander F. Markham, Jilly E. Hope, Alex von Kriegsheim, Hannah M. Mitchison, Ian J. Jackson, Bénédicte Durand, Walter Reith, Eamonn Sheridan, Andrew P. Jarman, Pleasantine Mill
PLoS Genet. 2014 Sep; 10(9): e1004577. Published online 2014 Sep 18. doi: 10.1371/journal.pgen.1004577
PMCID:
PMC4168999
AbstractArticlePDF–2.2M
18.
DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease
Jin Hwa Lee, Merry-Lynn N McDonald, Michael H Cho, Emily S Wan, Peter J Castaldi, Gary M Hunninghake, Nathaniel Marchetti, David A Lynch, James D Crapo, David A Lomas, Harvey O Coxson, Per S Bakke, Edwin K Silverman, Craig P Hersh, the COPDGene and ECLIPSE Investigators
Respir Res. 2014; 15(1): 97. Published online 2014 Aug 20. doi: 10.1186/s12931-014-0097-y
PMCID:
PMC4169636
AbstractArticlePDF–1.6M
19.
Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p
Adam J. Shapiro, Karen E. Weck, Kay C. Chao, Margaret Rosenfeld, Anders O. H. Nygren, Michael R. Knowles, Margaret W. Leigh, Maimoona A. Zariwala
J Pediatr. Author manuscript; available in PMC 2015 Oct 1.
Published in final edited form as: J Pediatr. 2014 Oct; 165(4): 858–861. Published online 2014 Jul 25. doi: 10.1016/j.jpeds.2014.06.048
PMCID:
PMC4177261
AbstractArticlePDF–193K
20.
Systematic discovery of novel ciliary genes through functional genomics in the zebrafish
Semil P. Choksi, Deepak Babu, Doreen Lau, Xianwen Yu, Sudipto Roy
Development. 2014 Sep; 141(17): 3410–3419. doi: 10.1242/dev.108209
PMCID:
PMC4199137
AbstractArticle

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