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512 results

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Page 1
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
Rumman N, Fassad MR, Driessens C, Goggin P, Abdelrahman N, Adwan A, Albakri M, Chopra J, Doherty R, Fashho B, Freke GM, Hasaballah A, Jackson CL, Mohamed MA, Abu Nema R, Patel MP, Pengelly RJ, Qaaqour A, Rubbo B, Thomas NS, Thompson J, Walker WT, Wheway G, Mitchison HM, Lucas JS. Rumman N, et al. Among authors: jackson cl. ERJ Open Res. 2023 Apr 17;9(2):00714-2022. doi: 10.1183/23120541.00714-2022. eCollection 2023 Mar. ERJ Open Res. 2023. PMID: 37077557 Free PMC article.
Lower airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review.
Gahleitner F, Thompson J, Jackson CL, Hueppe JF, Behan L, Dehlink E, Goutaki M, Halbeisen F, Queiroz APL, Thouvenin G, Kuehni CE, Latzin P, Lucas JS, Rubbo B. Gahleitner F, et al. Among authors: jackson cl. ERJ Open Res. 2021 Nov 29;7(4):00320-2021. doi: 10.1183/23120541.00320-2021. eCollection 2021 Oct. ERJ Open Res. 2021. PMID: 34853782 Free PMC article. Review.
Nitric oxide in primary ciliary dyskinesia.
Walker WT, Jackson CL, Lackie PM, Hogg C, Lucas JS. Walker WT, et al. Among authors: jackson cl. 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.
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.
Accuracy of diagnostic testing in primary ciliary dyskinesia.
Jackson CL, Behan L, Collins SA, Goggin PM, Adam EC, Coles JL, Evans HJ, Harris A, Lackie P, Packham S, Page A, Thompson J, Walker WT, Kuehni C, Lucas JS. Jackson CL, et al. Eur Respir J. 2016 Mar;47(3):837-48. doi: 10.1183/13993003.00749-2015. Epub 2015 Dec 2. Eur Respir J. 2016. PMID: 26647444 Free PMC article.
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: jackson cl. Thorax. 2018 Feb;73(2):157-166. doi: 10.1136/thoraxjnl-2017-209999. Epub 2017 Aug 8. Thorax. 2018. PMID: 28790179 Free PMC article.
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.
Best S, Shoemark A, Rubbo B, Patel MP, Fassad MR, Dixon M, Rogers AV, Hirst RA, Rutman A, Ollosson S, Jackson CL, Goggin P, Thomas S, Pengelly R, Cullup T, Pissaridou E, Hayward J, Onoufriadis A, O'Callaghan C, Loebinger MR, Wilson R, Chung EM, Kenia P, Doughty VL, Carvalho JS, Lucas JS, Mitchison HM, Hogg C. Best S, et al. Among authors: jackson cl. Thorax. 2019 Feb;74(2):203-205. doi: 10.1136/thoraxjnl-2018-212104. Epub 2018 Aug 30. Thorax. 2019. PMID: 30166424
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
Fassad MR, Patel MP, Shoemark A, Cullup T, Hayward J, Dixon M, Rogers AV, Ollosson S, Jackson C, Goggin P, Hirst RA, Rutman A, Thompson J, Jenkins L, Aurora P, Moya E, Chetcuti P, O'Callaghan C, Morris-Rosendahl DJ, Watson CM, Wilson R, Carr S, Walker W, Pitno A, Lopes S, Morsy H, Shoman W, Pereira L, Constant C, Loebinger MR, Chung EMK, Kenia P, Rumman N, Fasseeh N, Lucas JS, Hogg C, Mitchison HM. Fassad MR, et al. J Med Genet. 2020 May;57(5):322-330. doi: 10.1136/jmedgenet-2019-106501. Epub 2019 Dec 25. J Med Genet. 2020. PMID: 31879361
512 results