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181 results

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Page 1
Improvement in lung health in primary ciliary dyskinesia.
Schofield LM, Chetcuti P, Maitra A, Moya E, Robinson P. Schofield LM, et al. Among authors: moya e. J Paediatr Child Health. 2022 Mar;58(3):526-528. doi: 10.1111/jpc.15550. Epub 2021 May 12. J Paediatr Child Health. 2022. PMID: 33978293 No abstract available.
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. Among authors: moya e. 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.
Imaging Lung Function Abnormalities in Primary Ciliary Dyskinesia Using Hyperpolarized Gas Ventilation MRI.
Smith LJ, West N, Hughes D, Marshall H, Johns CS, Stewart NJ, Chan HF, Rao M, Capener DJ, Bray J, Collier GJ, Hughes PJC, Norquay G, Schofield L, Chetcuti P, Moya E, Wild JM. Smith LJ, et al. Among authors: moya e. Ann Am Thorac Soc. 2018 Dec;15(12):1487-1490. doi: 10.1513/AnnalsATS.201711-890RL. Ann Am Thorac Soc. 2018. PMID: 29684285 Free PMC article. No abstract available.
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. Among authors: moya e. 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
Clinical features and management of children with primary ciliary dyskinesia in England.
Rubbo B, Best S, Hirst RA, Shoemark A, Goggin P, Carr SB, Chetcuti P, Hogg C, Kenia P, Lucas JS, Moya E, Narayanan M, O'Callaghan C, Williamson M, Walker WT; English National Children’s PCD Management Service. Rubbo B, et al. Among authors: moya e. Arch Dis Child. 2020 Aug;105(8):724-729. doi: 10.1136/archdischild-2019-317687. Epub 2020 Mar 10. Arch Dis Child. 2020. PMID: 32156696
Saline in acute bronchiolitis RCT and economic evaluation: hypertonic saline in acute bronchiolitis - randomised controlled trial and systematic review.
Everard ML, Hind D, Ugonna K, Freeman J, Bradburn M, Dixon S, Maguire C, Cantrill H, Alexander J, Lenney W, McNamara P, Elphick H, Chetcuti PA, Moya EF, Powell C, Garside JP, Chadha LK, Kurian M, Lehal RS, MacFarlane PI, Cooper CL, Cross E. Everard ML, et al. Among authors: moya ef. Health Technol Assess. 2015 Aug;19(66):1-130. doi: 10.3310/hta19660. Health Technol Assess. 2015. PMID: 26295732 Free PMC article. Clinical Trial.
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: moya e. Thorax. 2018 Feb;73(2):157-166. doi: 10.1136/thoraxjnl-2017-209999. Epub 2017 Aug 8. Thorax. 2018. PMID: 28790179 Free PMC article.
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O'Callaghan C, Moya E, Chung EM; UK10K Consortium; Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM. Hjeij R, et al. Among authors: moya e. Am J Hum Genet. 2014 Sep 4;95(3):257-74. doi: 10.1016/j.ajhg.2014.08.005. Am J Hum Genet. 2014. PMID: 25192045 Free PMC article.
181 results