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Page 1
The Impact on Parents of Diagnosing PCD in Young Children.
Driessens C, Carr S, Clough E, Copeland F, Dell S, Dixon L, Harris A, Knibb R, Leigh M, Narayanan M, Redfern B, Robson E, Sawras M, Schofield L, Sullivan K, Tipping M, Tran N, Walker W, Lucas JS, Behan L. Driessens C, et al. Among authors: carr s. J Clin Med. 2022 Aug 16;11(16):4774. doi: 10.3390/jcm11164774. J Clin Med. 2022. PMID: 36013013 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.
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: carr s. Thorax. 2018 Feb;73(2):157-166. doi: 10.1136/thoraxjnl-2017-209999. Epub 2017 Aug 8. Thorax. 2018. PMID: 28790179 Free PMC article.
Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort.
Goutaki M, Halbeisen FS, Spycher BD, Maurer E, Belle F, Amirav I, Behan L, Boon M, Carr S, Casaulta C, Clement A, Crowley S, Dell S, Ferkol T, Haarman EG, Karadag B, Knowles M, Koerner-Rettberg C, Leigh MW, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Phillipsen M, Sagel SD, Santamaria F, Schwerk N, Yiallouros P, Lucas JS, Kuehni CE; PCD Israeli Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases. Goutaki M, et al. Among authors: carr s. Eur Respir J. 2017 Dec 21;50(6):1701659. doi: 10.1183/13993003.01659-2017. Print 2017 Dec. Eur Respir J. 2017. PMID: 29269581 Free article.
Pulmonary exacerbations in patients with primary ciliary dyskinesia: an expert consensus definition for use in clinical trials.
Lucas JS, Gahleitner F, Amorim A, Boon M, Brown P, Constant C, Cook S, Crowley S, Destouches DMS, Eber E, Mussaffi H, Haarman E, Harris A, Koerner-Rettberg C, Kuehni CE, Latzin P, Loebinger MR, Lorent N, Maitre B, Moreno-Galdó A, Nielsen KG, Özçelik U, Philipsen LKD, Pohunek P, Polverino E, Rademacher J, Robinson P, Snijders D, Yiallouros P, Carr SB. Lucas JS, et al. Among authors: carr sb. ERJ Open Res. 2019 Feb 1;5(1):00147-2018. doi: 10.1183/23120541.00147-2018. eCollection 2019 Feb. ERJ Open Res. 2019. PMID: 30723730 Free PMC article.
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: carr s. 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: carr sb. 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
Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School.
Gardner LE, Horton KL, Shoemark A, Lucas JS, Nielsen KG, Kobbernagel H, Rubbo B, Hirst RA, Kouis P, Ullmann N, Reula A, Rumman N, Mitchison HM, Pinto A, Richardson C, Schmidt A, Thompson J, Gaupmann R, Dabrowski M, Mill P, Carr SB, Norris DP, Kuehni CE, Goutaki M, Hogg C. Gardner LE, et al. Among authors: carr sb. BMC Proc. 2020 Jun 19;14(Suppl 8):7. doi: 10.1186/s12919-020-00191-3. eCollection 2020. BMC Proc. 2020. PMID: 32577127 Free PMC article.
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A, Rubbo B, Legendre M, Fassad MR, Haarman EG, Best S, Bon ICM, Brandsma J, Burgel PR, Carlsson G, Carr SB, Carroll M, Edwards M, Escudier E, Honoré I, Hunt D, Jouvion G, Loebinger MR, Maitre B, Morris-Rosendahl D, Papon JF, Parsons CM, Patel MP, Thomas NS, Thouvenin G, Walker WT, Wilson R, Hogg C, Mitchison HM, Lucas JS. Shoemark A, et al. Among authors: carr sb. Eur Respir J. 2021 Aug 5;58(2):2002359. doi: 10.1183/13993003.02359-2020. Print 2021 Aug. Eur Respir J. 2021. PMID: 33479112 Free article.
The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN.
Raidt J, Maitre B, Pennekamp P, Altenburg J, Anagnostopoulou P, Armengot M, Bloemsma LD, Boon M, Borrelli M, Brinkmann F, Carr SB, Carroll MP, Castillo-Corullón S, Coste A, Cutrera R, Dehlink E, Destouches DMS, Di Cicco ME, Dixon L, Emiralioglu N, Erdem Eralp E, Haarman EG, Hogg C, Karadag B, Kobbernagel HE, Lorent N, Mall MA, Marthin JK, Martinu V, Narayanan M, Ozcelik U, Peckham D, Pifferi M, Pohunek P, Polverino E, Range S, Ringshausen FC, Robson E, Roehmel J, Rovira-Amigo S, Santamaria F, Schlegtendal A, Szépfalusi Z, Tempels P, Thouvenin G, Ullmann N, Walker WT, Wetzke M, Yiallouros P, Omran H, Nielsen KG. Raidt J, et al. Among authors: carr sb. ERJ Open Res. 2022 Aug 15;8(3):00139-2022. doi: 10.1183/23120541.00139-2022. eCollection 2022 Jul. ERJ Open Res. 2022. PMID: 35983540 Free PMC article.
1,656 results