References
- Raidt J, Wallmeier J, Hjeij R, et al. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. Eur Respir J. 2014;44(6):1579–1588.
- Leigh MW, Hazucha MJ, Chawla KK, et al. Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc. 2013;10(6):574–581.
- Werner C, Onnebrink JG, Omran H. Diagnosis and management of primary ciliary dyskinesia. Cilia. 2015;4(1):2.
- Lucas JS, Barbato A, Collins SA, et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017;49(1). doi:10.1183/13993003.01090-2016. Print 2017 Jan.
- Shoemark A, Frost E, Dixon M, Ollosson S, Kilpin K, Patel M, … Hogg C. Accuracy of immunofluorescence in the diagnosis of primary ciliary dyskinesia. Am J Respir Crit Care Med. 2017;196(1):94–101.
- Afzelius BA. A human syndrome caused by immotile cilia. Science. 1976;193(4250):317–319.
- Knowles MR, Leigh MW, Carson JL, et al. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax. 2012;67(5):433–441.
- Boon M, Smits A, Cuppens H, et al. Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. Orphanet J Rare Dis. 2014;9(1):11.
- O’Callaghan C, Rutman A, Williams GM, Hirst RA. Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required. Eur Respir J. 2011;38(3):603–607.
- Knowles MR, Ostrowski LE, Leigh MW, et al. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med. 2014;189(6):707–717.
- Horani A, Brody SL, Ferkol TW, et al. CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. PloS One. 2013;8(8):e72299.
- Wirschell M, Olbrich H, Werner C, et al. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet. 2013;45(3):262–268.
- Olbrich H, Schmidts M, Werner C, et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet. 2012;91(4):672–684.
- Wallmeier J, Al-Mutairi DA, Chen C, et al. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Genet. 2014;46(6):646–651.
- Boon M, Wallmeier J, Ma L, Loges NT, Jaspers M, Olbrich H, … Omran H. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Commun. 2014;5.
- Schwabe GC, Hoffmann K, Loges NT, et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat. 2008;29(2):289–298.
- Kouis P, Yiallouros PK, Middleton N, Evans JS, Kyriacou K, Papatheodorou SI. Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis. Pediatr Res. 2017;81(3):398–405.
- Papon JF, Coste A, Roudot-Thoraval F, et al. A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2010;35(5):1057–1063.
- Olin JT, Burns K, Carson JL, et al. Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience. Pediatr Pulmonol. 2011;46(5):483–488.
- Adil EA, Kawai K, Dombrowski N, Irace AL, Cunningham MJ. Nasal versus tracheobronchial biopsies to diagnose primary ciliary dyskinesia: A meta‐analysis. Laryngoscope. 2017;127(1):6–13.
- Behan L, Dunn Galvin A, Rubbo B, et al. Diagnosing primary ciliary dyskinesia: an international patient perspective. Eur Respir J. 2016;48(4):1096–1107.
- Fliegauf M, Olbrich H, Horvath J, et al. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Am J Respir Crit Care Med. 2005;171(12):1343–1349.
- Omran H, Kobayashi D, Olbrich H, et al. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature. 2008;456(7222):611–616.
- Merveille A, Davis EE, Becker-Heck A, et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet. 2011;43(1):72–78.
- Kott E, Legendre M, Copin B, et al. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. Am J Hum Genet. 2013;93(3):561–570.
- Onoufriadis A, Shoemark A, Schmidts M, et al. 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. Hum Mol Genet. 2014;23(13):3362–3374.
- Horani A, Ferkol TW, Dutcher SK, Brody SL. Genetics and biology of primary ciliary dyskinesia. Paediatr Respir Rev. 2016;18:18–24.
- Keith Funkhouser W, III, Niethammer M, Carson JL, et al. A new tool improves diagnostic test performance for transmission EM evaluation of axonemal dynein arms. Ultrastruct Pathol. 2014;38(4):248–255.
- Escudier E, Couprie M, Duriez B, et al. Computer-assisted analysis helps detect inner dynein arm abnormalities. Am J Respir Crit Care Med. 2002;166(9):1257–1262.
- Lin J, Yin W, Smith MC, et al. Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia. Nat Commun. 2014;5:5727.