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Page 1
Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities.
Amirav I, Roduta Roberts M, Mussaffi H, Mandelberg A, Roth Y, Abitbul R, Luder A, Blau H, Alkrinawi S, Aviram M, Ben-Ami M, Rotschild M, Bentur L, Shoseyov D, Cohen-Cymberknoh M, Kerem E, Avital A, Springer C, Hevroni A, Dabbah H, Elizur A, Picard E, Goldberg S, Rivlin J, Livnat G, Lavie M, Alias N, Soferman R, Olbrich H, Raidt J, Wallmeier J, Werner C, Loges NT, Omran H. Amirav I, et al. Among authors: abitbul r. F1000Res. 2016 Aug 18;5:2031. doi: 10.12688/f1000research.9323.2. eCollection 2016. F1000Res. 2016. PMID: 27781089 Free PMC article.
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. 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.
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. Among authors: abitbul r. Hum Mutat. 2016 Apr;37(4):396-405. doi: 10.1002/humu.22957. Epub 2016 Feb 4. Hum Mutat. 2016. PMID: 26777464
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: abitbul r. Nat Commun. 2014 Jul 22;5:4418. doi: 10.1038/ncomms5418. Nat Commun. 2014. PMID: 25048963 Free article.
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Ta-Shma A, Hjeij R, Perles Z, Dougherty GW, Abu Zahira I, Letteboer SJF, Antony D, Darwish A, Mans DA, Spittler S, Edelbusch C, Cindrić S, Nöthe-Menchen T, Olbrich H, Stuhlmann F, Aprea I, Pennekamp P, Loges NT, Breuer O, Shaag A, Rein AJJT, Gulec EY, Gezdirici A, Abitbul R, Elias N, Amirav I, Schmidts M, Roepman R, Elpeleg O, Omran H. Ta-Shma A, et al. Among authors: abitbul r. PLoS Genet. 2018 Aug 27;14(8):e1007602. doi: 10.1371/journal.pgen.1007602. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30148830 Free PMC article.