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Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD.

Goutaki M, Papon JF, Boon M, Casaulta C, Eber E, Escudier E, Halbeisen FS, Harris A, Hogg C, Honore I, Jung A, Karadag B, Koerner-Rettberg C, Legendre M, Maitre B, Nielsen KG, Rubbo B, Rumman N, Schofield L, Shoemark A, Thouvenin G, Willkins H, Lucas JS, Kuehni CE.

ERJ Open Res. 2020 Feb 10;6(1). pii: 00237-2019. doi: 10.1183/23120541.00237-2019. eCollection 2020 Jan.


Primary ciliary dyskinesia patients have the same P. aeruginosa clone in sinuses and lungs.

Arndal E, Johansen HK, Haagensen JAJ, Bartell JA, Marvig RL, Alanin M, Aanæs K, Høiby N, Nielsen KG, Backer V, von Buchwald C.

Eur Respir J. 2020 Jan 16;55(1). pii: 1901472. doi: 10.1183/13993003.01472-2019. Print 2020 Jan. No abstract available.


SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.

Cindrić S, Dougherty GW, Olbrich H, Hjeij R, Loges NT, Amirav I, Philipsen MC, Marthin JK, Nielsen KG, Sutharsan S, Raidt J, Werner C, Pennekamp P, Dworniczak B, Omran H.

Am J Respir Cell Mol Biol. 2020 Mar;62(3):382-396. doi: 10.1165/rcmb.2019-0086OC.


Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study.

Kouis P, Goutaki M, Halbeisen FS, Gioti I, Middleton N, Amirav I; Israeli PCD Consortium, Barbato A; Italian PCD Consortium, Behan L, Boon M, Emiralioglu N, Haarman EG, Karadag B, Koerner-Rettberg C, Lazor R; Swiss PCD Group, Loebinger MR, Maitre B; French Reference Centre for Rare Lung Diseases, Mazurek H, Morgan L, Nielsen KG, Omran H, Özçelik U, Price M, Pogorzelski A, Snijders D; PCD Italian Consortium, Thouvenin G; French Reference Centre for Rare Lung Diseases, Werner C, Zivkovic Z, Kuehni CE, Yiallouros PK.

Respir Res. 2019 Sep 18;20(1):212. doi: 10.1186/s12931-019-1183-y.


The Controversies and Difficulties of Diagnosing Primary Ciliary Dyskinesia.

Shoemark A, Rubbo B, Haarman E, Hirst RA, Hogg C, Jackson CL, Nielsen KG, Papon JF, Robinson P, Walker WT, Lucas JS.

Am J Respir Crit Care Med. 2020 Jan 1;201(1):120-122. doi: 10.1164/rccm.201907-1334LE. No abstract available.


Long-Term Lung Function and Exercise Capacity in Postinfectious chILD.

Sisman Y, Buchvald FF, Ring AM, Wassilew K, Nielsen KG.

Pediatr Allergy Immunol Pulmonol. 2019 Mar 1;32(1):4-11. doi: 10.1089/ped.2018.0973. Epub 2019 Mar 28.


The impact of mannose-binding lectin polymorphisms on lung function in primary ciliary dyskinesia.

Videbaek K, Buchvald F, Holgersen MG, Henriksen A, Eriksson F, Garred P, Nielsen KG.

Pediatr Pulmonol. 2019 Aug;54(8):1182-1189. doi: 10.1002/ppul.24346. Epub 2019 Apr 22.


Lung clearance index for early detection of pulmonary complications after allo-HSCT in children.

Uhlving HH, Skov L, Buchvald F, Heilmann C, Grell K, Ifversen M, Green K, Müller K, Nielsen KG.

Pediatr Pulmonol. 2019 Jul;54(7):1029-1038. doi: 10.1002/ppul.24340. Epub 2019 Apr 19.


One-year evolution and variability in multiple-breath washout indices in children and young adults with primary ciliary dyskinesia.

Kobbernagel HE, Green K, Ring AM, Buchvald FF, Rosthøj S, Gustafsson PM, Nielsen KG.

Eur Clin Respir J. 2019 Mar 26;6(1):1591841. doi: 10.1080/20018525.2019.1591841. eCollection 2019.


Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School.

Farley H, Rubbo B, Bukowy-Bieryllo Z, Fassad M, Goutaki M, Harman K, Hogg C, Kuehni CE, Lopes S, Nielsen KG, Norris DP, Reula A, Rumman N, Shoemark A, Wilkins H, Wisse A, Lucas JS, Marthin JK.

BMC Proc. 2018 Dec 18;12(Suppl 16):64. doi: 10.1186/s12919-018-0161-6. eCollection 2018.


Proof of Concept: Very Rapid Tidal Breathing Nasal Nitric Oxide Sampling Discriminates Primary Ciliary Dyskinesia from Healthy Subjects.

Holgersen MG, Marthin JK, Nielsen KG.

Lung. 2019 Apr;197(2):209-216. doi: 10.1007/s00408-019-00202-x. Epub 2019 Feb 14.


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.

ERJ Open Res. 2019 Feb 1;5(1). pii: 00147-2018. doi: 10.1183/23120541.00147-2018. eCollection 2019 Feb.


Can secretory immunoglobulin A in saliva predict a change in lung infection status in patients with cystic fibrosis? A prospective pilot study.

Alanin MC, Pressler T, Aanaes K, Ekstrøm CT, Skov M, Johansen HK, Nielsen KG, von Buchwald C, Høiby N.

Health Sci Rep. 2018 Jul 12;1(8):e52. doi: 10.1002/hsr2.52. eCollection 2018 Aug.


Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study.

Halbeisen FS, Goutaki M, Spycher BD, Amirav I, Behan L, Boon M, Hogg C, Casaulta C, Crowley S, Haarman EG, Karadag B, Koerner-Rettberg C, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Omran H, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Lucas JS, Latzin P, Kuehni CE.

Eur Respir J. 2018 Aug 23;52(2). pii: 1801040. doi: 10.1183/13993003.01040-2018. Print 2018 Aug.


Variation in treatment strategies for the eradication of Pseudomonas aeruginosa in primary ciliary dyskinesia across European centers.

Crowley S, Holgersen MG, Nielsen KG.

Chron Respir Dis. 2019 Jan-Dec;16:1479972318787919. doi: 10.1177/1479972318787919. Epub 2018 Jul 18.


Ventilation inhomogeneity and NO and CO diffusing capacity in ex-premature school children.

Sørensen JK, Buchvald F, Berg AK, Robinson PD, Nielsen KG.

Respir Med. 2018 Jul;140:94-100. doi: 10.1016/j.rmed.2018.06.006. Epub 2018 Jun 6.


Fitness and lung function in children with primary ciliary dyskinesia and cystic fibrosis.

Ring AM, Buchvald FF, Holgersen MG, Green K, Nielsen KG.

Respir Med. 2018 Jun;139:79-85. doi: 10.1016/j.rmed.2018.05.001. Epub 2018 May 3.


Infant nasal nitric oxide over time: natural evolution and impact of respiratory tract infection.

Marthin JK, Philipsen MC, Rosthoj S, Nielsen KG.

Eur Respir J. 2018 Jun 21;51(6). pii: 1702503. doi: 10.1183/13993003.02503-2017. Print 2018 Jun.


Associations of physical activity with childhood asthma, a population study based on the WHO - health behaviour in school-aged children survey.

Lochte L, Petersen PE, Nielsen KG, Andersen A, Platts-Mills TAE.

Asthma Res Pract. 2018 Apr 30;4:6. doi: 10.1186/s40733-018-0042-9. eCollection 2018.


Initiating transitional care for adolescents with cystic fibrosis at the age of 12 is both feasible and promising.

Skov M, Teilmann G, Damgaard IN, Nielsen KG, Hertz PG, Holgersen MG, Presfeldt M, Dalager AMS, Brask M, Boisen KA.

Acta Paediatr. 2018 Nov;107(11):1977-1982. doi: 10.1111/apa.14388. Epub 2018 May 29.


Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.

Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, Omran H.

Am J Hum Genet. 2018 May 3;102(5):973-984. doi: 10.1016/j.ajhg.2018.03.025.


The accessibility of topical treatment in the paranasal sinuses on operated cystic fibrosis patients assessed by scintigraphy.

Aanaes K, Alanin MC, Nielsen KG, Moller Jorgensen M, von Buchwald C, Hoiby N, Johansen HK, Johannesen HH, Mortensen J.

Rhinology. 2018 Sep 1;56(3):268-273. doi: 10.4193/Rhin17.243.


Preschool Multiple-Breath Washout Testing. An Official American Thoracic Society Technical Statement.

Robinson PD, Latzin P, Ramsey KA, Stanojevic S, Aurora P, Davis SD, Gappa M, Hall GL, Horsley A, Jensen R, Lum S, Milla C, Nielsen KG, Pittman JE, Rosenfeld M, Singer F, Subbarao P, Gustafsson PM, Ratjen F; ATS Assembly on Pediatrics.

Am J Respir Crit Care Med. 2018 Mar 1;197(5):e1-e19. doi: 10.1164/rccm.201801-0074ST.


The effect of time-of-day and chest physiotherapy on multiple breath washout measures in children with clinically stable cystic fibrosis.

Voldby C, Green K, Rosthøj S, Kongstad T, Philipsen L, Buchvald F, Skov M, Pressler T, Gustafsson P, Nielsen KG.

PLoS One. 2018 Jan 10;13(1):e0190894. doi: 10.1371/journal.pone.0190894. eCollection 2018.


Variability of monthly nitrogen multiple-breath washout during one year in children with cystic fibrosis.

Green K, Kongstad T, Skov M, Buchvald F, Rosthøj S, Marott JL, Gustafsson P, Pressler T, Nielsen KG.

J Cyst Fibros. 2018 Mar;17(2):242-248. doi: 10.1016/j.jcf.2017.11.007. Epub 2017 Dec 19.


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.

Eur Respir J. 2017 Dec 21;50(6). pii: 1701659. doi: 10.1183/13993003.01659-2017. Print 2017 Dec.


Exploring the Art of Ciliary Beating: The Benefits of High-Speed Video Analysis.

Lucas JS, Evans HJ, Haarman EG, Hirst RA, Hogg C, Jackson CL, Nielsen KG, Omran H, Papon JF, Robinson P, Shoemark A, Walker WT.

Chest. 2017 Dec;152(6):1348-1349. doi: 10.1016/j.chest.2017.06.053. No abstract available.


Fractional exhaled nitric oxide and multiple breath nitrogen washout in preschool healthy and asthmatic children.

Vilmann L, Buchvald F, Green K, Nielsen KG.

Respir Med. 2017 Dec;133:42-47. doi: 10.1016/j.rmed.2017.10.027. Epub 2017 Nov 14.


Clinical care of children with primary ciliary dyskinesia.

Lucas JS, Alanin MC, Collins S, Harris A, Johansen HK, Nielsen KG, Papon JF, Robinson P, Walker WT.

Expert Rev Respir Med. 2017 Oct;11(10):779-790. doi: 10.1080/17476348.2017.1360770. Epub 2017 Aug 2. Review.


Association between spirometry controlled chest CT scores using computer-animated biofeedback and clinical markers of lung disease in children with cystic fibrosis.

Kongstad T, Green K, Buchvald F, Skov M, Pressler T, Nielsen KG.

Eur Clin Respir J. 2017 May 2;4(1):1318027. doi: 10.1080/20018525.2017.1318027. eCollection 2017.


Correction: The Single-Breath Diffusing Capacity of CO and NO in Healthy Children of European Descent.

Thomas A, Hanel B, Marott JL, Buchvald F, Mortensen J, Nielsen KG.

PLoS One. 2017 Jun 1;12(6):e0179097. doi: 10.1371/journal.pone.0179097. eCollection 2017.


Patient-specific three-dimensional explant spheroids derived from human nasal airway epithelium: a simple methodological approach for ex vivo studies of primary ciliary dyskinesia.

Marthin JK, Stevens EM, Larsen LA, Christensen ST, Nielsen KG.

Cilia. 2017 Mar 23;6:3. doi: 10.1186/s13630-017-0049-5. eCollection 2017.


The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results.

Goutaki M, Maurer E, Halbeisen FS, Amirav I, Barbato A, Behan L, Boon M, Casaulta C, Clement A, Crowley S, Haarman E, Hogg C, Karadag B, Koerner-Rettberg C, Leigh MW, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Omran H, Schwerk N, Scigliano S, Werner C, Yiallouros P, Zivkovic Z, Lucas JS, Kuehni CE; PCD Italian Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases; Genetic Disorders of Mucociliary Clearance Consortium.

Eur Respir J. 2017 Jan 4;49(1). pii: 1601181. doi: 10.1183/13993003.01181-2016. Print 2017 Jan.


Sinus surgery can improve quality of life, lung infections, and lung function in patients with primary ciliary dyskinesia.

Alanin MC, Aanaes K, Høiby N, Pressler T, Skov M, Nielsen KG, Johansen HK, von Buchwald C.

Int Forum Allergy Rhinol. 2017 Mar;7(3):240-247. doi: 10.1002/alr.21873. Epub 2016 Nov 23.


Cardiopulmonary Exercise Testing in Fontan Patients With and Without Isomerism (Heterotaxy) as Compared to Patients With Primary Ciliary Dyskinesia and Subjects With Structurally Normal Hearts.

Loomba RS, Danduran M, Nielsen KG, Ring AM, Kovach J, Anderson RH.

Pediatr Cardiol. 2017 Feb;38(2):410-417. doi: 10.1007/s00246-016-1531-3. Epub 2016 Nov 23.


European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.

Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE.

Eur Respir J. 2017 Jan 4;49(1). pii: 1601090. doi: 10.1183/13993003.01090-2016. Print 2017 Jan.


Specific airway resistance in preschool children: why not panting after all?

Ioan I, Demoulin-Alexikova S, Coutier L, Bonabel C, Kirkby J, Nielsen KG, Tomalak W, Thompson B, Schweitzer C, Robinson PD, Marchal F.

Eur Respir J. 2016 Dec;48(6):1804-1807. doi: 10.1183/13993003.01302-2016. Epub 2016 Oct 20. No abstract available.


Exercise-induced inspiratory symptoms in school children.

Buchvald F, Phillipsen LD, Hjuler T, Nielsen KG.

Pediatr Pulmonol. 2016 Nov;51(11):1200-1205. doi: 10.1002/ppul.23530. Epub 2016 Sep 22.


Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia.

Kobbernagel HE, Buchvald FF, Haarman EG, Casaulta C, Collins SA, Hogg C, Kuehni CE, Lucas JS, Omran H, Quittner AL, Werner C, Nielsen KG.

BMC Pulm Med. 2016 Jul 22;16(1):104. doi: 10.1186/s12890-016-0261-x.


Bacterial evolution in PCD and CF patients follows the same mutational steps.

Sommer LM, Alanin MC, Marvig RL, Nielsen KG, Høiby N, von Buchwald C, Molin S, Johansen HK.

Sci Rep. 2016 Jun 28;6:28732. doi: 10.1038/srep28732.


Sinus surgery postpones chronic Gram-negative lung infection: cohort study of 106 patients with cystic fibrosis.

Alanin MC, Aanaes K, Høiby N, Pressler T, Skov M, Nielsen KG, Taylor-Robinson D, Waldmann E, Krogh Johansen H, von Buchwald C.

Rhinology. 2016 Sep;54(3):206-13. doi: 10.4193/Rhin15.347.


Childhood asthma and physical activity: a systematic review with meta-analysis and Graphic Appraisal Tool for Epidemiology assessment.

Lochte L, Nielsen KG, Petersen PE, Platts-Mills TA.

BMC Pediatr. 2016 Apr 18;16:50. doi: 10.1186/s12887-016-0571-4. Review.


Pulmonary function and fitness years after treatment for hypersensitivity pneumonitis during childhood.

Sisman Y, Buchvald F, Blyme AK, Mortensen J, Nielsen KG.

Pediatr Pulmonol. 2016 Aug;51(8):830-7. doi: 10.1002/ppul.23360. Epub 2015 Dec 17.


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.

Eur Respir J. 2016 Mar;47(3):849-59. doi: 10.1183/13993003.00776-2015. Epub 2015 Dec 8.


Abbreviation modalities of nitrogen multiple-breath washout tests in school children with obstructed lung disease.

Green K, Ejlertsen JS, Madsen A, Buchvald FF, Kongstad T, Kobbernagel H, Gustafsson PM, Nielsen KG.

Pediatr Pulmonol. 2016 Jun;51(6):624-32. doi: 10.1002/ppul.23339. Epub 2015 Nov 23.


Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.

Olbrich H, Cremers C, Loges NT, Werner C, Nielsen KG, Marthin JK, Philipsen M, Wallmeier J, Pennekamp P, Menchen T, Edelbusch C, Dougherty GW, Schwartz O, Thiele H, Altmüller J, Rommelmann F, Omran H.

Am J Hum Genet. 2015 Oct 1;97(4):546-54. doi: 10.1016/j.ajhg.2015.08.012. Epub 2015 Sep 17.


A longitudinal study of lung bacterial pathogens in patients with primary ciliary dyskinesia.

Alanin MC, Nielsen KG, von Buchwald C, Skov M, Aanaes K, Høiby N, Johansen HK.

Clin Microbiol Infect. 2015 Dec;21(12):1093.e1-7. doi: 10.1016/j.cmi.2015.08.020. Epub 2015 Sep 2.


Poor standardisation of plethysmographic specific airways resistance measurement despite widespread use.

Robinson PD, Stocks J, Marchal F, Nielsen KG, Thompson BR, Tomalak W, Kirkby J.

Eur Respir J. 2015 Dec;46(6):1811-4. doi: 10.1183/13993003.00377-2015. Epub 2015 Aug 20. No abstract available.


Clinical value of measurement of pulmonary radioaerosol mucociliary clearance in the work up of primary ciliary dyskinesia.

Munkholm M, Nielsen KG, Mortensen J.

EJNMMI Res. 2015 Dec;5(1):118. doi: 10.1186/s13550-015-0118-y. Epub 2015 Jul 16.


Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H.

Am J Respir Cell Mol Biol. 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC.

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