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High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
Shoemark A, Moya E, Hirst RA, Patel MP, Robson EA, Hayward J, Scully J, Fassad MR, Lamb W, Schmidts M, Dixon M, Patel-King RS, Rogers AV, Rutman A, Jackson CL, Goggin P, Rubbo B, Ollosson S, Carr S, Walker W, Adler B, Loebinger MR, Wilson R, Bush A, Williams H, Boustred C, Jenkins L, Sheridan E, Chung EMK, Watson CM, Cullup T, Lucas JS, Kenia P, O'Callaghan C, King SM, Hogg C, Mitchison HM. Shoemark A, et al. Among authors: lucas js. Thorax. 2018 Feb;73(2):157-166. doi: 10.1136/thoraxjnl-2017-209999. Epub 2017 Aug 8. Thorax. 2018. PMID: 28790179 Free PMC article.
Primary ciliary dyskinesia: current state of the art.
Bush A, Chodhari R, Collins N, Copeland F, Hall P, Harcourt J, Hariri M, Hogg C, Lucas J, Mitchison HM, O'Callaghan C, Phillips G. Bush A, et al. Arch Dis Child. 2007 Dec;92(12):1136-40. doi: 10.1136/adc.2006.096958. Epub 2007 Jul 18. Arch Dis Child. 2007. PMID: 17634184 Free PMC article. Review.
Diagnosing primary ciliary dyskinesia.
O'Callaghan C, Chilvers M, Hogg C, Bush A, Lucas J. O'Callaghan C, et al. Thorax. 2007 Aug;62(8):656-7. doi: 10.1136/thx.2007.083147. Thorax. 2007. PMID: 17687094 Free PMC article.
[Primary ciliary dyskinesia (Pcd) in Austria].
Lesic I, Maurer E, Strippoli MP, Kuehni CE, Barbato A, Frischer T; ERS Taskforce on Primary Ciliary Dyskinesia in children. Lesic I, et al. Wien Klin Wochenschr. 2009;121(19-20):616-22. doi: 10.1007/s00508-009-1197-4. Wien Klin Wochenschr. 2009. PMID: 19921128 Free article. Clinical Trial. German.
Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children.
Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, Bartoloni L, Eber E, Escribano A, Haarman E, Hesselmar B, Hogg C, Jorissen M, Lucas J, Nielsen KG, O'Callaghan C, Omran H, Pohunek P, Strippoli MP, Bush A. Barbato A, et al. Eur Respir J. 2009 Dec;34(6):1264-76. doi: 10.1183/09031936.00176608. Eur Respir J. 2009. PMID: 19948909 Free article.
Factors influencing age at diagnosis of primary ciliary dyskinesia in European children.
Kuehni CE, Frischer T, Strippoli MP, Maurer E, Bush A, Nielsen KG, Escribano A, Lucas JS, Yiallouros P, Omran H, Eber E, O'Callaghan C, Snijders D, Barbato A; ERS Task Force on Primary Ciliary Dyskinesia in Children. Kuehni CE, et al. Among authors: lucas js. Eur Respir J. 2010 Dec;36(6):1248-58. doi: 10.1183/09031936.00001010. Epub 2010 Jun 7. Eur Respir J. 2010. PMID: 20530032 Free article.
Nitric oxide in primary ciliary dyskinesia.
Walker WT, Jackson CL, Lackie PM, Hogg C, Lucas JS. Walker WT, et al. Among authors: lucas js. Eur Respir J. 2012 Oct;40(4):1024-32. doi: 10.1183/09031936.00176111. Epub 2012 Mar 9. Eur Respir J. 2012. PMID: 22408195 Free article. Review.
178 results