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De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H. Wallmeier J, et al. Among authors: shoemark a. Am J Hum Genet. 2019 Nov 7;105(5):1030-1039. doi: 10.1016/j.ajhg.2019.09.022. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630787 Free PMC article.
Inflammatory Molecular Endotypes in Bronchiectasis: A European Multicenter Cohort Study.
Choi H, Ryu S, Keir HR, Giam YH, Dicker AJ, Perea L, Richardson H, Huang JTJ, Cant E, Blasi F, Pollock J, Shteinberg M, Finch S, Aliberti S, Sibila O, Shoemark A, Chalmers JD. Choi H, et al. Among authors: shoemark a. Am J Respir Crit Care Med. 2023 Dec 1;208(11):1166-1176. doi: 10.1164/rccm.202303-0499OC. Am J Respir Crit Care Med. 2023. PMID: 37769155
Extensive acute and sustained changes to neutrophil proteomes post-SARS-CoV-2 infection.
Long MB, Howden AJM, Keir HR, Rollings CM, Giam YH, Pembridge T, Delgado L, Abo-Leyah H, Lloyd AF, Sollberger G, Hull R, Gilmour A, Hughes C, New BJM, Cassidy D, Shoemark A, Richardson H, Lamond AI, Cantrell DA, Chalmers JD, Brenes AJ. Long MB, et al. Among authors: shoemark a. Eur Respir J. 2024 Mar 7;63(3):2300787. doi: 10.1183/13993003.00787-2023. Print 2024 Mar. Eur Respir J. 2024. PMID: 38097207 Free PMC article.
The Association Between Bronchiectasis and Chronic Obstructive Pulmonary Disease: Data from the European Bronchiectasis Registry (EMBARC).
Polverino E, De Soyza A, Dimakou K, Traversi L, Bossios A, Crichton ML, Ringshausen FC, Vendrell M, Burgel PR, Haworth CS, Loebinger MR, Lorent N, Pink I, McDonnell M, Skrgat S, Maiz Carro L, Sibila O, Vd Eerden MM, Kauppi P, Shoemark A, Amorim A, Brown JS, Hurst JR, Miravitlles M, Menendez R, Torres A, Welte T, Blasi F, Altenburg J, Shteinberg M, Boersma W, Elborn SJ, Goeminne PC, Aliberti S, Chalmers JD. Polverino E, et al. Among authors: shoemark a. Am J Respir Crit Care Med. 2024 Jan 25. doi: 10.1164/rccm.202309-1614OC. Online ahead of print. Am J Respir Crit Care Med. 2024. PMID: 38271696
Transforming clinical research and science in bronchiectasis: EMBARC3, a European Respiratory Society Clinical Research Collaboration.
Chalmers JD, Aliberti S, Altenburg J, Blasi F, Clarke C, Chotirmall SH, Crichton ML, Dhar R, Goeminne P, Haworth C, Loebinger MR, Lorent N, Polverino E, Ringshausen FC, Shoemark A, Shteinberg M, Sibila O, Spinou A, Welte T. Chalmers JD, et al. Among authors: shoemark a. Eur Respir J. 2023 Jun 29;61(6):2300769. doi: 10.1183/13993003.00769-2023. Print 2023 Jun. Eur Respir J. 2023. PMID: 37385653 No abstract available.
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: shoemark 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.
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME; UK10K Consortium; Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H. Olbrich H, et al. Among authors: shoemark a. Am J Hum Genet. 2012 Oct 5;91(4):672-84. doi: 10.1016/j.ajhg.2012.08.016. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022101 Free PMC article.
Electron tomography of respiratory cilia.
Shoemark A, Hogg C. Shoemark A, et al. Thorax. 2013 Feb;68(2):190-1. doi: 10.1136/thoraxjnl-2012-202938. Epub 2012 Nov 28. Thorax. 2013. PMID: 23192883 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: shoemark a. 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.
110 results