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Pulmonary radioaerosol mucociliary clearance in diagnosis of primary ciliary dyskinesia.
Marthin JK, Mortensen J, Pressler T, Nielsen KG. Marthin JK, et al. Chest. 2007 Sep;132(3):966-76. doi: 10.1378/chest.06-2951. Epub 2007 Jul 23. Chest. 2007. PMID: 17646235 Clinical Trial.
Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study.
Marthin JK, Petersen N, Skovgaard LT, Nielsen KG. Marthin JK, et al. Am J Respir Crit Care Med. 2010 Jun 1;181(11):1262-8. doi: 10.1164/rccm.200811-1731OC. Epub 2010 Feb 18. Am J Respir Crit Care Med. 2010. PMID: 20167855
Ventilation inhomogeneity in children with primary ciliary dyskinesia.
Green K, Buchvald FF, Marthin JK, Hanel B, Gustafsson PM, Nielsen KG. Green K, et al. Thorax. 2012 Jan;67(1):49-53. doi: 10.1136/thoraxjnl-2011-200726. Epub 2011 Sep 26. Thorax. 2012. PMID: 21953064
Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia.
Maglione M, Bush A, Nielsen KG, Hogg C, Montella S, Marthin JK, Di Giorgio A, Santamaria F. Maglione M, et al. Among authors: marthin jk. Pediatr Pulmonol. 2014 Dec;49(12):1243-50. doi: 10.1002/ppul.22984. Epub 2014 Jan 13. Pediatr Pulmonol. 2014. PMID: 24420929 Clinical Trial.
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O'Callaghan C, Moya E, Chung EM; UK10K Consortium, Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM. Hjeij R, et al. Among authors: marthin jk. Am J Hum Genet. 2014 Sep 4;95(3):257-74. doi: 10.1016/j.ajhg.2014.08.005. Am J Hum Genet. 2014. PMID: 25192045 Free PMC article.
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. Frommer A, et al. Among authors: marthin jk. Am J Respir Cell Mol Biol. 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC. Am J Respir Cell Mol Biol. 2015. PMID: 25789548 Free PMC article.
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. Olbrich H, et al. Among authors: marthin jk. Am J Hum Genet. 2015 Oct 1;97(4):546-54. doi: 10.1016/j.ajhg.2015.08.012. Epub 2015 Sep 17. Am J Hum Genet. 2015. PMID: 26387594 Free PMC article.
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