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There are 818507 results for: content related to: Loss-of-function mutations in CCDC114 cause primary ciliary dyskinesia

  1. Riding the wave of ependymal cilia: Genetic susceptibility to hydrocephalus in primary ciliary dyskinesia

    Journal of Neuroscience Research

    Volume 91, Issue 9, September 2013, Pages: 1117–1132, Lance Lee

    Version of Record online : 17 MAY 2013, DOI: 10.1002/jnr.23238

  2. Founder Mutation in RSPH4A Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1352–1356, M. Leigh Anne Daniels, Margaret W. Leigh, Stephanie D. Davis, Michael C. Armstrong, Johnny L. Carson, Milan Hazucha, Sharon D. Dell, Maria Eriksson, Francis S. Collins, Michael R. Knowles and Maimoona A. Zariwala

    Version of Record online : 6 AUG 2013, DOI: 10.1002/humu.22371

  3. Treatment and outcomes of chronic rhinosinusitis in children with primary ciliary dyskinesia: where is the evidence? A qualitative systematic review

    International Forum of Allergy & Rhinology

    Volume 3, Issue 12, December 2013, Pages: 986–991, David J. Mener, Sandra Y. Lin, Stacey L. Ishman and Emily F. Boss

    Version of Record online : 4 OCT 2013, DOI: 10.1002/alr.21227

  4. Molecular Genetics of Primary Ciliary Dyskinesia

    Standard Article

    eLS

    Amjad Horani and Thomas W Ferkol

    Published Online : 8 DEC 2013, DOI: 10.1002/9780470015902.a0024989

  5. RPGR mutations might cause reduced orientation of respiratory cilia

    Pediatric Pulmonology

    Volume 48, Issue 4, April 2013, Pages: 352–363, Zuzanna Bukowy-Bieryłło, Ewa Ziętkiewicz, Niki Tomas Loges, Mariana Wittmer, Maciej Geremek, Heike Olbrich, Manfred Fliegauf, Katarzyna Voelkel, Ewa Rutkiewicz, Jonathan Rutland, Lucy Morgan, Andrzej Pogorzelski, James Martin, Eric Haan, Wolfgang Berger, Heymut Omran and Michał Witt

    Version of Record online : 6 AUG 2012, DOI: 10.1002/ppul.22632

  6. You have full text access to this OnlineOpen article
    Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

    Pediatric Pulmonology

    Volume 51, Issue 2, February 2016, Pages: 115–132, Adam J. Shapiro, Maimoona A. Zariwala, Thomas Ferkol, Stephanie D. Davis, Scott D. Sagel, Sharon D. Dell, Margaret Rosenfeld, Kenneth N. Olivier, Carlos Milla, Sam J. Daniel, Adam J. Kimple, Michele Manion, Michael R. Knowles, Margaret W. Leigh and for the Genetic Disorders of Mucociliary Clearance Consortium

    Version of Record online : 29 SEP 2015, DOI: 10.1002/ppul.23304

  7. Primary ciliary dyskinesia diagnosed on nasal mucosal biopsy in two newborns

    Pediatrics International

    Volume 56, Issue 2, April 2014, Pages: 258–261, Jun Yasuhara, Yuji Yamada, Kaori Hara, Rieko Suhara, Yujiro Hattori, Tetsuji Yamaguchi, Yusuke Mizuno, Rika Kizu and Masahiro Bamba

    Version of Record online : 15 APR 2014, DOI: 10.1111/ped.12268

  8. You have full text access to this OnlineOpen article
    Primary ciliary dyskinesia complicated with diffuse panbronchiolitis: a case report and literature review

    The Clinical Respiratory Journal

    Volume 8, Issue 4, October 2014, Pages: 425–430, Wei Chen, Changzhou Shao, Yuanlin Song and Chunxue Bai

    Version of Record online : 10 JAN 2014, DOI: 10.1111/crj.12089

  9. Sleep disordered breathing in patients with primary ciliary dyskinesia

    Pediatric Pulmonology

    Volume 48, Issue 9, September 2013, Pages: 897–903, Sedat Oktem, Bulent Karadag, Ela Erdem, Yasemin Gokdemir, Fazilet Karakoc, Elif Dagli and Refika Ersu

    Version of Record online : 20 NOV 2012, DOI: 10.1002/ppul.22710

  10. You have free access to this content
    Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: 495–503, Jane S. Lucas, Elizabeth C. Adam, Patricia M. Goggin, Claire L. Jackson, Nicola Powles-Glover, Saloni H Patel, James Humphreys, Martin D. Fray, Emilie Falconnet, Jean-Louis Blouin, Michael T. Cheeseman, Lucia Bartoloni, Dominic P. Norris and Peter M. Lackie

    Version of Record online : 29 DEC 2011, DOI: 10.1002/humu.22001

  11. You have free access to this content
    Sleep disordered breathing and airway disease in primary ciliary dyskinesia

    Respirology

    Volume 19, Issue 4, May 2014, Pages: 570–575, Francesca Santamaria, Maria Esposito, Silvia Montella, Elena Cantone, Carmine Mollica, Sara De Stefano, Virginia Mirra and Marco Carotenuto

    Version of Record online : 24 MAR 2014, DOI: 10.1111/resp.12273

  12. Cardiopulmonary assessment in primary ciliary dyskinesia

    European Journal of Clinical Investigation

    Volume 42, Issue 6, June 2012, Pages: 617–622, Giuliana Valerio, Francesco Giallauria, Silvia Montella, Nicola Vaino, Carlo Vigorito, Virginia Mirra and Francesca Santamaria

    Version of Record online : 29 NOV 2011, DOI: 10.1111/j.1365-2362.2011.02626.x

  13. Primary ciliary dyskinesia: Overlooked and undertreated in children

    Journal of Paediatrics and Child Health

    Volume 50, Issue 12, December 2014, Pages: 952–958, Patrick Hosie, Dominic A Fitzgerald, Adam Jaffe, Catherine S Birman and Lucy Morgan

    Version of Record online : 18 JUN 2014, DOI: 10.1111/jpc.12628

  14. You have full text access to this OnlineOpen article
    Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 434–441, Christopher M. Watson, Laura A. Crinnion, Joanne E. Morgan, Sally M. Harrison, Christine P. Diggle, Julian Adlard, Helen A. Lindsay, Nick Camm, Ruth Charlton, Eamonn Sheridan, David T. Bonthron, Graham R. Taylor and Ian M. Carr

    Version of Record online : 17 MAR 2014, DOI: 10.1002/humu.22490

  15. Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure

    Cytoskeleton

    Volume 69, Issue 8, August 2012, Pages: 577–590, Eileen T. O'Toole, Thomas H. Giddings Jr., Mary E. Porter and Lawrence E. Ostrowski

    Version of Record online : 22 MAY 2012, DOI: 10.1002/cm.21035

  16. Presentation of primary ciliary dyskinesia in children: 30 years' experience

    Journal of Paediatrics and Child Health

    Volume 51, Issue 7, July 2015, Pages: 722–726, Patrick H Hosie, Dominic A Fitzgerald, Adam Jaffe, Catherine S Birman, Jonathan Rutland and Lucy C Morgan

    Version of Record online : 15 DEC 2014, DOI: 10.1111/jpc.12791

  17. Clinical analysis of patients with primary ciliary dyskinesia in mainland China

    The Clinical Respiratory Journal

    Yueqin Cao, Changzhou Shao, Yuanlin Song, Chunxue Bai and Lixian He

    Version of Record online : 8 APR 2015, DOI: 10.1111/crj.12284

  18. Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia

    Pediatric Pulmonology

    Volume 47, Issue 9, September 2012, Pages: 864–875, Jana Djakow, Tamara Svobodová, Karel Hrach, Jiří Uhlík, Ondřej Cinek and Petr Pohunek

    Version of Record online : 13 MAR 2012, DOI: 10.1002/ppul.22520

  19. You have full text access to this OnlineOpen article
    Mucociliary clearance: pathophysiological aspects

    Clinical Physiology and Functional Imaging

    Volume 34, Issue 3, May 2014, Pages: 171–177, Mathias Munkholm and Jann Mortensen

    Version of Record online : 30 SEP 2013, DOI: 10.1111/cpf.12085

  20. CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature

    The Clinical Respiratory Journal

    Weiguo Sui, Xianliang Hou, Wenti Che, Minglin Ou, Guoping Sun, Shengxing Huang, Fuhua Liu, Peng Chen, Xiaolian Wei and Yong Dai

    Version of Record online : 3 MAR 2015, DOI: 10.1111/crj.12268