References
- Kuehni CE, Frischer T, Strippoli MP, et al. ERS Task force on primary ciliary dyskinesia in children. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J. 2010;36:1248–1258.
- Boon M, Jorissen M, Proesmans M, De Boeck K. Primary ciliary dyskinesia, an orphan disease. Eur J Pediatr. 2013;172(2):151–162.
- Kartagener M. Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus. Beiträge zur Klinik der Tuberkulose 1933;83:489–501.
- Afzelius B. A human syndrome caused by immotile cilia. Science 1976;193:317–319.
- Eliasson R, Mossberg B, Camner P, Afzelius BA. The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility. N Engl J Med. 1977;297(1):1–6.
- Sturgess JM, Turner JA. Ultrastructural pathology of cilia in the immotile cilia syndrome. Perspect Pediatr Pathol. 1984;8(2):133–161.
- 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.
- Yiallouros P, Nearchou M, Hadjisavvas A, Kyriacou K. The contemporary use of electron microscopy in the diagnosis of ciliary disorders and sperm centriolar abnormalities. In: Stirling J, Curry A, Eyden B, ed.Diagnostic Electron Microscopy A Practical Guide to Tissue Preparation and Interpretation, Royal Microscopical Society, ISBN 978-1-119-97399-7. John Wiley & Sons; 2012.
- Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Critical Care Med. 2013;188(8):913–922.
- 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 Mar;81(3):398–405.
- Werner C, Onnebrink JG, Omran H. Diagnosis and management of primary ciliary dyskinesia. Cilia 2015;4(1):1.
- 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.
- Shoemark A, Hogg C. Electron tomography of respiratory cilia. Thorax 2013;68(2):190–191.
- Shoemark A, Dixon M, Beales PL, Hogg CL. Bardet Biedl syndrome: Motile ciliary phenotype. CHEST J. 2015;147(3):764–770.
- Papon JF, Perrault I, Coste A, et al. Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. J Med Genet. 2010;47(12):829–834