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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: wilson r. Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279. Nat Commun. 2017. PMID: 28176794 Free PMC article.
Primary ciliary dyskinesia: diagnosis and standards of care.
Bush A, Cole P, Hariri M, Mackay I, Phillips G, O'Callaghan C, Wilson R, Warner JO. Bush A, et al. Among authors: wilson r. Eur Respir J. 1998 Oct;12(4):982-8. doi: 10.1183/09031936.98.12040982. Eur Respir J. 1998. PMID: 9817179 Free article. Review.
Aetiology in adult patients with bronchiectasis.
Shoemark A, Ozerovitch L, Wilson R. Shoemark A, et al. Among authors: wilson r. Respir Med. 2007 Jun;101(6):1163-70. doi: 10.1016/j.rmed.2006.11.008. Epub 2007 Jan 12. Respir Med. 2007. PMID: 17223027 Free article.
Pharmacotherapy for bronchiectasis.
Loebinger MR, Wilson R. Loebinger MR, et al. Among authors: wilson r. Expert Opin Pharmacother. 2007 Dec;8(18):3183-93. doi: 10.1517/14656566.8.18.3183. Expert Opin Pharmacother. 2007. PMID: 18035962 Review.
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