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International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria).
Shoemark A, Boon M, Brochhausen C, Bukowy-Bieryllo Z, De Santi MM, Goggin P, Griffin P, Hegele RG, Hirst RA, Leigh MW, Lupton A, MacKenney K, Omran H, Pache JC, Pinto A, Reinholt FP, Schroeder J, Yiallouros P, Escudier E; representing the BEAT-PCD Network Guideline Development Group. Shoemark A, et al. Among authors: goggin p. Eur Respir J. 2020 Apr 16;55(4):1900725. doi: 10.1183/13993003.00725-2019. Print 2020 Apr. Eur Respir J. 2020. PMID: 32060067 Free article.
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k; Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM. Antony D, et al. Among authors: goggin p. Hum Mutat. 2013 Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 11. Hum Mutat. 2013. PMID: 23255504 Free PMC article.
Diagnosis and management of primary ciliary dyskinesia.
Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C; National PCD Service, UK. Lucas JS, et al. Arch Dis Child. 2014 Sep;99(9):850-6. doi: 10.1136/archdischild-2013-304831. Epub 2014 Apr 25. Arch Dis Child. 2014. PMID: 24771309 Free PMC article. Review.
Diagnostic Methods in Primary Ciliary Dyskinesia.
Lucas JS, Paff T, Goggin P, Haarman E. Lucas JS, et al. Among authors: goggin p. Paediatr Respir Rev. 2016 Mar;18:8-17. doi: 10.1016/j.prrv.2015.07.017. Epub 2015 Aug 19. Paediatr Respir Rev. 2016. PMID: 26362507 Review.
103 results