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Page 1
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: omran h. 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.
[Primary ciliary dyskinesia (Pcd) in Austria].
Lesic I, Maurer E, Strippoli MP, Kuehni CE, Barbato A, Frischer T; ERS Taskforce on Primary Ciliary Dyskinesia in children. Lesic I, et al. Wien Klin Wochenschr. 2009;121(19-20):616-22. doi: 10.1007/s00508-009-1197-4. Wien Klin Wochenschr. 2009. PMID: 19921128 Free article. Clinical Trial. German.
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. Among authors: omran h. 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. Among authors: omran h. 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.
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD. Becker-Heck A, et al. Among authors: omran h. Nat Genet. 2011 Jan;43(1):79-84. doi: 10.1038/ng.727. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131974 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: omran h. 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.
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H. Hjeij R, et al. Among authors: omran h. Am J Hum Genet. 2013 Aug 8;93(2):357-67. doi: 10.1016/j.ajhg.2013.06.009. Epub 2013 Jul 11. Am J Hum Genet. 2013. PMID: 23849778 Free PMC article.
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.
Boon M, Wallmeier J, Ma L, Loges NT, Jaspers M, Olbrich H, Dougherty GW, Raidt J, Werner C, Amirav I, Hevroni A, Abitbul R, Avital A, Soferman R, Wessels M, O'Callaghan C, Chung EM, Rutman A, Hirst RA, Moya E, Mitchison HM, Van Daele S, De Boeck K, Jorissen M, Kintner C, Cuppens H, Omran H. Boon M, et al. Among authors: omran h. Nat Commun. 2014 Jul 22;5:4418. doi: 10.1038/ncomms5418. Nat Commun. 2014. PMID: 25048963 Free article.
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: omran h. 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.
434 results