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Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Wheway G, Thomas NS, Carroll M, Coles J, Doherty R; Genomics England Research Consortium; Goggin P, Green B, Harris A, Hunt D, Jackson CL, Lord J, Mennella V, Thompson J, Walker WT, Lucas JS. Wheway G, et al. Among authors: lucas js. BMC Med Genomics. 2021 Sep 23;14(1):234. doi: 10.1186/s12920-021-01084-w. BMC Med Genomics. 2021. PMID: 34556108 Free PMC 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.
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: lucas js. 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.
Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid.
Hirst RA, Jackson CL, Coles JL, Williams G, Rutman A, Goggin PM, Adam EC, Page A, Evans HJ, Lackie PM, O'Callaghan C, Lucas JS. Hirst RA, et al. Among authors: lucas js. PLoS One. 2014 Feb 25;9(2):e89675. doi: 10.1371/journal.pone.0089675. eCollection 2014. PLoS One. 2014. PMID: 24586956 Free PMC article.
178 results