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A BEAT-PCD consensus statement: a core outcome set for pulmonary disease interventions in primary ciliary dyskinesia.
Kos R, Goutaki M, Kobbernagel HE, Rubbo B, Shoemark A, Aliberti S, Altenburg J, Anagnostopoulou P, Athanazio RA, Beydon N, Dell SD, Emiralioglu N, Ferkol TW, Loebinger MR, Lorent N, Maître B, Marthin J, Morgan LC, Nielsen KG, Ringshausen FC, Shteinberg M, Tiddens HAWM, Maitland-Van der Zee AH, Chalmers JD, Lucas JSA, Haarman EG. Kos R, et al. Among authors: lucas jsa. ERJ Open Res. 2024 Jan 8;10(1):00115-2023. doi: 10.1183/23120541.00115-2023. eCollection 2024 Jan. ERJ Open Res. 2024. PMID: 38196895 Free PMC article.
Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children.
Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, Bartoloni L, Eber E, Escribano A, Haarman E, Hesselmar B, Hogg C, Jorissen M, Lucas J, Nielsen KG, O'Callaghan C, Omran H, Pohunek P, Strippoli MP, Bush A. Barbato A, et al. Eur Respir J. 2009 Dec;34(6):1264-76. doi: 10.1183/09031936.00176608. Eur Respir J. 2009. PMID: 19948909 Free article.
Factors influencing age at diagnosis of primary ciliary dyskinesia in European children.
Kuehni CE, Frischer T, Strippoli MP, Maurer E, Bush A, Nielsen KG, Escribano A, Lucas JS, Yiallouros P, Omran H, Eber E, O'Callaghan C, Snijders D, Barbato A; ERS Task Force on Primary Ciliary Dyskinesia in Children. Kuehni CE, et al. Eur Respir J. 2010 Dec;36(6):1248-58. doi: 10.1183/09031936.00001010. Epub 2010 Jun 7. Eur Respir J. 2010. PMID: 20530032 Free article.
Management of primary ciliary dyskinesia in European children: recommendations and clinical practice.
Strippoli MP, Frischer T, Barbato A, Snijders D, Maurer E, Lucas JS, Eber E, Karadag B, Pohunek P, Zivkovic Z, Escribano A, O'Callaghan C, Bush A, Kuehni CE; ERS Task Force onPrimary Ciliary Dyskinesia in Children. Strippoli MP, et al. Eur Respir J. 2012 Jun;39(6):1482-91. doi: 10.1183/09031936.00073911. Epub 2012 Jan 26. Eur Respir J. 2012. PMID: 22282549 Free article.
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. 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.
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM. Moore DJ, et al. Am J Hum Genet. 2013 Aug 8;93(2):346-56. doi: 10.1016/j.ajhg.2013.07.009. Epub 2013 Jul 25. Am J Hum Genet. 2013. PMID: 23891471 Free PMC article.
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.
Diagnostic Methods in Primary Ciliary Dyskinesia.
Lucas JS, Paff T, Goggin P, Haarman E. Lucas JS, et al. Paediatr Respir Rev. 2016 Mar;18:8-17. doi: 10.1016/j.prrv.2015.07.017. Epub 2015 Aug 19. Paediatr Respir Rev. 2016. PMID: 26362507 Review.
An international registry for primary ciliary dyskinesia.
Werner C, Lablans M, Ataian M, Raidt J, Wallmeier J, Große-Onnebrink J, Kuehni CE, Haarman EG, Leigh MW, Quittner AL, Lucas JS, Hogg C, Witt M, Priftis KN, Yiallouros P, Nielsen KG, Santamaria F, Ückert F, Omran H. Werner C, et al. Eur Respir J. 2016 Mar;47(3):849-59. doi: 10.1183/13993003.00776-2015. Epub 2015 Dec 8. Eur Respir J. 2016. PMID: 26659107 Free article.
PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia.
Behan L, Dimitrov BD, Kuehni CE, Hogg C, Carroll M, Evans HJ, Goutaki M, Harris A, Packham S, Walker WT, Lucas JS. Behan L, et al. Eur Respir J. 2016 Apr;47(4):1103-12. doi: 10.1183/13993003.01551-2015. Epub 2016 Feb 25. Eur Respir J. 2016. PMID: 26917608 Free PMC article.
137 results