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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group; Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM. Olcese C, et al. Among authors: bush a. Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279. Nat Commun. 2017. PMID: 28176794 Free PMC article.
Quality control for spirometry in preschool children with and without lung disease.
Aurora P, Stocks J, Oliver C, Saunders C, Castle R, Chaziparasidis G, Bush A; London Cystic Fibrosis Collaboration. Aurora P, et al. Among authors: bush a. Am J Respir Crit Care Med. 2004 May 15;169(10):1152-9. doi: 10.1164/rccm.200310-1453OC. Epub 2004 Mar 17. Am J Respir Crit Care Med. 2004. PMID: 15028561
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. Among authors: bush a. Thorax. 2007 Aug;62(8):656-7. doi: 10.1136/thx.2007.083147. Thorax. 2007. PMID: 17687094 Free PMC article.
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM. Castleman VH, et al. Among authors: bush a. Am J Hum Genet. 2009 Feb;84(2):197-209. doi: 10.1016/j.ajhg.2009.01.011. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200523 Free PMC article.
Symptom-pattern phenotype and pulmonary function in preschool wheezers.
Sonnappa S, Bastardo CM, Wade A, Saglani S, McKenzie SA, Bush A, Aurora P. Sonnappa S, et al. Among authors: bush a. J Allergy Clin Immunol. 2010 Sep;126(3):519-26.e1-7. doi: 10.1016/j.jaci.2010.04.018. Epub 2010 Jun 25. J Allergy Clin Immunol. 2010. PMID: 20579717
1,978 results