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Select item 60545341.

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

Abstract Article PDF–932K

Select item 37397042.

Clinical and Genetic Aspects of Primary Ciliary Dyskinesia / Kartagener Syndrome

Margaret W. Leigh, Jessica E. Pittman, Johnny L. Carson, Thomas W. Ferkol, Sharon D. Dell, Stephanie D. Davis, Michael R. Knowles, Maimoona A. Zariwala

Genet Med. Author manuscript; available in PMC 2013 Aug 9.

Published in final edited form as: Genet Med. 2009 Jul; 11(7): 473–487. doi: 10.1097/GIM.0b013e3181a53562

PMCID:: PMC3739704

Abstract Article PDF–1.6M

Select item 37321753.

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Edgar A Otto, Bernhard Schermer, Tomoko Obara, John F O'Toole, Karl S Hiller, Adelheid M Mueller, Rainer G Ruf, Julia Hoefele, Frank Beekmann, Daniel Landau, John W Foreman, Judith A Goodship, Tom Strachan, Andreas Kispert, Matthias T Wolf, Marie F Gagnadoux, Hubert Nivet, Corinne Antignac, Gerd Walz, Iain A Drummond, Thomas Benzing, Friedhelm Hildebrandt

Nat Genet. Author manuscript; available in PMC 2013 Aug 2.

Published in final edited form as: Nat Genet. 2003 Aug; 34(4): 413–420. doi: 10.1038/ng1217

PMCID:: PMC3732175

Abstract Article PDF–795K

Select item 37333334.

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

Matias Simons, Joachim Gloy, Athina Ganner, Axel Bullerkotte, Mikhail Bashkurov, Corinna Krönig, Bernhard Schermer, Thomas Benzing, Olga A Cabello, Andreas Jenny, Marek Mlodzik, Bozena Polok, Wolfgang Driever, Tomoko Obara, Gerd Walz

Nat Genet. Author manuscript; available in PMC 2013 Aug 5.

Published in final edited form as: Nat Genet. 2005 May; 37(5): 537–543. Published online 2005 Apr 24. doi: 10.1038/ng1552

PMCID:: PMC3733333

Abstract Article PDF–2.8M

Select item 37388235.

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

Alice E. Davidson, Nele Schwarz, Lina Zelinger, Gabriele Stern-Schneider, Amelia Shoemark, Benjamin Spitzbarth, Menachem Gross, Uri Laxer, Jacob Sosna, Panagiotis I. Sergouniotis, Naushin H. Waseem, Robert Wilson, Richard A. Kahn, Vincent Plagnol, Uwe Wolfrum, Eyal Banin, Alison J. Hardcastle, Michael E. Cheetham, Dror Sharon, Andrew R. Webster

Am J Hum Genet. 2013 Aug 8; 93(2): 321–329. doi: 10.1016/j.ajhg.2013.06.003

PMCID:: PMC3738823

Abstract Article PDF–1.8M

Select item 37388276.

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Maimoona A. Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, Dalal A. Al-Mutairi, Margaret W. Leigh, Toby W. Hurd, Rim Hjeij, Sharon D. Dell, Moumita Chaki, Gerard W. Dougherty, Mohamed Adan, Philip C. Spear, Julian Esteve-Rudd, Niki T. Loges, Margaret Rosenfeld, Katrina A. Diaz, Heike Olbrich, Whitney E. Wolf, Eamonn Sheridan, Trevor F.C. Batten, Jan Halbritter, Jonathan D. Porath, Stefan Kohl, Svjetlana Lovric, Daw-Yang Hwang, Jessica E. Pittman, Kimberlie A. Burns, Thomas W. Ferkol, Scott D. Sagel, Kenneth N. Olivier, Lucy C. Morgan, Claudius Werner, Johanna Raidt, Petra Pennekamp, Zhaoxia Sun, Weibin Zhou, Rannar Airik, Sivakumar Natarajan, Susan J. Allen, Israel Amirav, Dagmar Wieczorek, Kerstin Landwehr, Kim Nielsen, Nicolaus Schwerk, Jadranka Sertic, Gabriele Köhler, Joseph Washburn, Shawn Levy, Shuling Fan, Cordula Koerner-Rettberg, Serge Amselem, David S. Williams, Brian J. Mitchell, Iain A. Drummond, Edgar A. Otto, Heymut Omran, Michael R. Knowles, Friedhelm Hildebrandt

Am J Hum Genet. 2013 Aug 8; 93(2): 336–345. doi: 10.1016/j.ajhg.2013.06.007

PMCID:: PMC3738827

Abstract Article PDF–1.9M

Select item 37388287.

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

Rim Hjeij, Anna Lindstrand, Richard Francis, Maimoona A. Zariwala, Xiaoqin Liu, You Li, Rama Damerla, Gerard W. Dougherty, Marouan Abouhamed, Heike Olbrich, Niki T. Loges, Petra Pennekamp, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehlivan, Claudius Werner, Johanna Raidt, Gabriele Köhler, Karsten Häffner, Miguel Reyes-Mugica, James R. Lupski, Margaret W. Leigh, Margaret Rosenfeld, Lucy C. Morgan, Michael R. Knowles, Cecilia W. Lo, Nicholas Katsanis, Heymut Omran

Am J Hum Genet. 2013 Aug 8; 93(2): 357–367. doi: 10.1016/j.ajhg.2013.06.009

PMCID:: PMC3738828

Abstract Article PDF–2.9M

Select item 37388358.

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

Daniel J. Moore, Alexandros Onoufriadis, Amelia Shoemark, Michael A. Simpson, Petra I. zur Lage, Sandra C. de Castro, Lucia Bartoloni, Giuseppe Gallone, Stavroula Petridi, Wesley J. Woollard, Dinu Antony, Miriam Schmidts, Teresa Didonna, Periklis Makrythanasis, Jeremy Bevillard, Nigel P. Mongan, Jana Djakow, Gerard Pals, Jane S. Lucas, June K. Marthin, Kim G. Nielsen, Federico Santoni, Michel Guipponi, Claire Hogg, Stylianos E. Antonarakis, Richard D. Emes, Eddie M.K. Chung, Nicholas D.E. Greene, Jean-Louis Blouin, Andrew P. Jarman, Hannah M. Mitchison

Am J Hum Genet. 2013 Aug 8; 93(2): 346–356. doi: 10.1016/j.ajhg.2013.07.009

PMCID:: PMC3738835

Abstract Article PDF–2.5M

Select item 37397009.

Mutations of DNAH11 in Primary Ciliary Dyskinesia Patients with Normal Ciliary Ultrastructure

Michael R Knowles, Margaret W Leigh, Johnny L Carson, Stephanie D Davis, Sharon D Dell, Thomas W Ferkol, Kenneth N Olivier, Scott D Sagel, Margaret Rosenfeld, Kimberlie A. Burns, Susan L Minnix, Michael C Armstrong, Adriana Lori, Milan J Hazucha, Niki T Loges, Heike Olbrich, Anita Becker-Heck, Miriam Schmidts, Claudius Werner, Heymut Omran, Maimoona A Zariwala, The Genetic Disorders of Mucociliary Clearance Consortium

Thorax. Author manuscript; available in PMC 2013 Aug 9.

Published in final edited form as: Thorax. 2012 May; 67(5): 433–441. Published online 2011 Dec 18. doi: 10.1136/thoraxjnl-2011-200301

PMCID:: PMC3739700

Abstract Article PDF–660K

Select item 372787710.

Sperm-Associated Antigen–17 Gene Is Essential for Motile Cilia Function and Neonatal Survival

Maria Eugenia Teves, Zhibing Zhang, Richard M. Costanzo, Scott C. Henderson, Frank D. Corwin, Jamal Zweit, Gobalakrishnan Sundaresan, Mark Subler, Fadi N. Salloum, Bruce K. Rubin, Jerome F. Strauss, III

Am J Respir Cell Mol Biol. 2013 Jun; 48(6): 765–772. doi: 10.1165/rcmb.2012-0362OC

PMCID:: PMC3727877

Abstract Article PDF–1.9M

Select item 375330211.

CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

Amjad Horani, Steven L. Brody, Thomas W. Ferkol, David Shoseyov, Mollie G. Wasserman, Asaf Ta-shma, Kate S. Wilson, Philip V. Bayly, Israel Amirav, Malena Cohen-Cymberknoh, Susan K. Dutcher, Orly Elpeleg, Eitan Kerem

PLoS One. 2013; 8(8): e72299. Published online 2013 Aug 26. doi: 10.1371/journal.pone.0072299

PMCID:: PMC3753302

Abstract Article PDF–3.4M

Select item 375500812.

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

Jonathan S. Berg, James P. Evans, Margaret W. Leigh, Heymut Omran, Chris Bizon, Ketan Mane, Michael R. Knowles, Karen E. Weck, Maimoona A. Zariwala

Genet Med. Author manuscript; available in PMC 2013 Aug 27.

Published in final edited form as: Genet Med. 2011 Mar; 13(3): 218–229. doi: 10.1097/GIM.0b013e318203cff2

PMCID:: PMC3755008

Abstract Article PDF–1.5M

Select item 376992413.

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Esther Kott, Marie Legendre, Bruno Copin, Jean-François Papon, Florence Dastot-Le Moal, Guy Montantin, Philippe Duquesnoy, William Piterboth, Daniel Amram, Laurence Bassinet, Julie Beucher, Nicole Beydon, Eric Deneuville, Véronique Houdouin, Hubert Journel, Jocelyne Just, Nadia Nathan, Aline Tamalet, Nathalie Collot, Ludovic Jeanson, Morgane Le Gouez, Benoit Vallette, Anne-Marie Vojtek, Ralph Epaud, André Coste, Annick Clement, Bruno Housset, Bruno Louis, Estelle Escudier, Serge Amselem

Am J Hum Genet. 2013 Sep 5; 93(3): 561–570. doi: 10.1016/j.ajhg.2013.07.013

PMCID:: PMC3769924

Abstract Article PDF–1.0M

Select item 377199414.

A Complex of BBS1 and NPHP7 Is Required for Cilia Motility in Zebrafish

Yun Hee Kim, Daniel Epting, Krasimir Slanchev, Christina Engel, Gerd Walz, Albrecht Kramer-Zucker

PLoS One. 2013; 8(9): e72549. Published online 2013 Sep 12. doi: 10.1371/journal.pone.0072549

PMCID:: PMC3771994

Abstract Article PDF–2.2M

Select item 377204315.

Common Variants in Left/Right Asymmetry Genes and Pathways Are Associated with Relative Hand Skill

William M. Brandler, Andrew P. Morris, David M. Evans, Thomas S. Scerri, John P. Kemp, Nicholas J. Timpson, Beate St Pourcain, George Davey Smith, Susan M. Ring, John Stein, Anthony P. Monaco, Joel B. Talcott, Simon E. Fisher, Caleb Webber, Silvia Paracchini

PLoS Genet. 2013 Sep; 9(9): e1003751. Published online 2013 Sep 12. doi: 10.1371/journal.pgen.1003751

PMCID:: PMC3772043

Abstract Article PDF–409K

Select item 378625916.

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

Sylvia Hoff, Jan Halbritter, Daniel Epting, Valeska Frank, Thanh-Minh T. Nguyen, Jeroen van Reeuwijk, Christopher Boehlke, Christoph Schell, Takayuki Yasunaga, Martin Helmstädter, Miriam Mergen, Emilie Filhol, Karsten Boldt, Nicola Horn, Marius Ueffing, Edgar A. Otto, Tobias Eisenberger, Mariet W. Elting, Joanna A.E. van Wijk, Detlef Bockenhauer, Neil J. Sebire, Søren Rittig, Mogens Vyberg, Troels Ring, Martin Pohl, Lars Pape, Thomas J. Neuhaus, Neveen A. Soliman Elshakhs, Sarah J. Koon, Peter C. Harris, Florian Grahammer, Tobias B. Huber, E. Wolfgang Kuehn, Albrecht Kramer-Zucker, Hanno J. Bolz, Ronald Roepman, Sophie Saunier, Gerd Walz, Friedhelm Hildebrandt, Carsten Bergmann, Soeren S. Lienkamp

Nat Genet. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Nat Genet. 2013 Aug; 45(8): 951–956. Published online 2013 Jun 23. doi: 10.1038/ng.2681

PMCID:: PMC3786259

Abstract Article PDF–1.1M

Select item 379125217.

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

Michael R. Knowles, Lawrence E. Ostrowski, Niki T. Loges, Toby Hurd, Margaret W. Leigh, Lu Huang, Whitney E. Wolf, Johnny L. Carson, Milan J. Hazucha, Weining Yin, Stephanie D. Davis, Sharon D. Dell, Thomas W. Ferkol, Scott D. Sagel, Kenneth N. Olivier, Charlotte Jahnke, Heike Olbrich, Claudius Werner, Johanna Raidt, Julia Wallmeier, Petra Pennekamp, Gerard W. Dougherty, Rim Hjeij, Heon Yung Gee, Edgar A. Otto, Jan Halbritter, Moumita Chaki, Katrina A. Diaz, Daniela A. Braun, Jonathan D. Porath, Markus Schueler, György Baktai, Matthias Griese, Emily H. Turner, Alexandra P. Lewis, Michael J. Bamshad, Deborah A. Nickerson, Friedhelm Hildebrandt, Jay Shendure, Heymut Omran, Maimoona A. Zariwala

Am J Hum Genet. 2013 Oct 3; 93(4): 711–720. doi: 10.1016/j.ajhg.2013.07.025

PMCID:: PMC3791252

Abstract Article PDF–1.9M

Select item 379126418.

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

Christina Austin-Tse, Jan Halbritter, Maimoona A. Zariwala, Renée M. Gilberti, Heon Yung Gee, Nathan Hellman, Narendra Pathak, Yan Liu, Jennifer R. Panizzi, Ramila S. Patel-King, Douglas Tritschler, Raqual Bower, Eileen O’Toole, Jonathan D. Porath, Toby W. Hurd, Moumita Chaki, Katrina A. Diaz, Stefan Kohl, Svjetlana Lovric, Daw-Yang Hwang, Daniela A. Braun, Markus Schueler, Rannar Airik, Edgar A. Otto, Margaret W. Leigh, Peadar G. Noone, Johnny L. Carson, Stephanie D. Davis, Jessica E. Pittman, Thomas W. Ferkol, Jeffry J. Atkinson, Kenneth N. Olivier, Scott D. Sagel, Sharon D. Dell, Margaret Rosenfeld, Carlos E. Milla, Niki T. Loges, Heymut Omran, Mary E. Porter, Stephen M. King, Michael R. Knowles, Iain A. Drummond, Friedhelm Hildebrandt

Am J Hum Genet. 2013 Oct 3; 93(4): 672–686. doi: 10.1016/j.ajhg.2013.08.015

PMCID:: PMC3791264

Abstract Article PDF–2.5M

Select item 363046419.

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganisation and absent inner dynein arms

Dinu Antony, Anita Becker-Heck, Maimoona A Zariwala, Miriam Schmidts, Alexandros Onoufriadis, Mitra Forouhan, Robert Wilson, Theresa Taylor-Cox, Ann Dewar, Claire Jackson, Patricia Goggin, Niki T Loges, Heike Olbrich, Martine Jaspers, Mark Jorissen, Margaret W Leigh, Whitney E Wolf, M. Leigh Anne Daniels, Peader G Noone, Thomas W Ferkol, Scott D Sagel, Margaret Rosenfeld, Andrew Rutman, Abhijit Dixit, Christopher O’Callaghan, Jane S Lucas, Claire Hogg, Peter J Scambler, Richard D Emes, UK10K, Eddie MK Chung, Amelia Shoemark, Michael R Knowles, Heymut Omran, Hannah M Mitchison

Hum Mutat. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Hum Mutat. 2013 Mar; 34(3): 462–472. Published online 2013 Feb 11. doi: 10.1002/humu.22261

PMCID:: PMC3630464

Abstract Article PDF–1.3M

Select item 348465220.

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

Heike Olbrich, Miriam Schmidts, Claudius Werner, Alexandros Onoufriadis, Niki T. Loges, Johanna Raidt, Nora Fanni Banki, Amelia Shoemark, Tom Burgoyne, Saeed Al Turki, Matthew E. Hurles, UK10K Consortium, Gabriele Köhler, Josef Schroeder, Gudrun Nürnberg, Peter Nürnberg, Eddie M.K. Chung, Richard Reinhardt, June K. Marthin, Kim G. Nielsen, Hannah M. Mitchison, Heymut Omran

Am J Hum Genet. 2012 Oct 5; 91(4): 672–684. doi: 10.1016/j.ajhg.2012.08.016

PMCID:: PMC3484652

Abstract Article PDF–1.5M

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