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Page 1
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. Halbeisen FS, et al. Among authors: amirav i. Eur Respir J. 2018 Aug 23;52(2):1801040. doi: 10.1183/13993003.01040-2018. Print 2018 Aug. Eur Respir J. 2018. PMID: 30049738 Free article.
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F. Zariwala MA, et al. Among authors: amirav i. Am J Hum Genet. 2013 Aug 8;93(2):336-45. doi: 10.1016/j.ajhg.2013.06.007. Epub 2013 Jul 25. Am J Hum Genet. 2013. PMID: 23891469 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: amirav i. Nat Commun. 2014 Jul 22;5:4418. doi: 10.1038/ncomms5418. Nat Commun. 2014. PMID: 25048963 Free 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: amirav i. 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.
Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
Amirav I, Wallmeier J, Loges NT, Menchen T, Pennekamp P, Mussaffi H, Abitbul R, Avital A, Bentur L, Dougherty GW, Nael E, Lavie M, Olbrich H, Werner C, Kintner C, Omran H; Israeli PCD Consortium Investigators. Amirav I, et al. Hum Mutat. 2016 Apr;37(4):396-405. doi: 10.1002/humu.22957. Epub 2016 Feb 4. Hum Mutat. 2016. PMID: 26777464
Diagnostic testing in primary ciliary dyskinesia.
Amirav I, Boussuyt PM. Amirav I, et al. Eur Respir J. 2016 Sep;48(3):959-60. doi: 10.1183/13993003.00657-2016. Eur Respir J. 2016. PMID: 27581414 Free article. No abstract available.
Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices.
Abitbul R, Amirav I, Blau H, Alkrinawi S, Aviram M, Shoseyov D, Bentur L, Avital A, Springer C, Lavie M, Prais D, Dabbah H, Elias N, Elizur A, Goldberg S, Hevroni A, Kerem E, Luder A, Roth Y, Cohen-Cymberknoh M, Ben Ami M, Mandelberg A, Livnat G, Picard E, Rivlin J, Rotschild M, Soferman R, Loges NT, Olbrich H, Werner C, Wolter A, Herting M, Wallmeier J, Raidt J, Omran H, Mussaffi H. Abitbul R, et al. Among authors: amirav i. Respir Med. 2016 Oct;119:41-47. doi: 10.1016/j.rmed.2016.08.015. Epub 2016 Aug 23. Respir Med. 2016. PMID: 27692146 Free article. Clinical Trial.
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. Goutaki M, et al. Among authors: amirav i. Eur Respir J. 2017 Jan 4;49(1):1601181. doi: 10.1183/13993003.01181-2016. Print 2017 Jan. Eur Respir J. 2017. PMID: 28052956 Free PMC article.
Clinical impact of Pseudomonas aeruginosa colonization in patients with Primary Ciliary Dyskinesia.
Cohen-Cymberknoh M, Weigert N, Gileles-Hillel A, Breuer O, Simanovsky N, Boon M, De Boeck K, Barbato A, Snijders D, Collura M, Pradal U, Blau H, Mussaffi H, Price M, Bentur L, Gur M, Aviram M, Picard E, Shteinberg M, Livnat G, Rivlin J, Hiller N, Shoseyov D, Amirav I, Kerem E. Cohen-Cymberknoh M, et al. Among authors: amirav i. Respir Med. 2017 Oct;131:241-246. doi: 10.1016/j.rmed.2017.08.028. Epub 2017 Sep 1. Respir Med. 2017. PMID: 28947038 Free article.
164 results