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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. Kouis P, et al. Among authors: omran h. Respir Res. 2019 Sep 18;20(1):212. doi: 10.1186/s12931-019-1183-y. Respir Res. 2019. PMID: 31533829 Free PMC article.
Neurological findings in aminoacylase 1 deficiency.
Sass JO, Olbrich H, Mohr V, Hart C, Woldseth B, Krywawych S, Bjurulf B, Lakhani PK, Buchdahl RM, Omran H. Sass JO, et al. Among authors: omran h. Neurology. 2007 Jun 12;68(24):2151-3. doi: 10.1212/01.wnl.0000264933.56204.e8. Neurology. 2007. PMID: 17562838 No abstract available.
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.
Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Knowles MR, et al. Among authors: omran h. Thorax. 2012 May;67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18. Thorax. 2012. PMID: 22184204 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.
DYX1C1 is required for axonemal dynein assembly and ciliary motility.
Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Köhler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K; UK10K; Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H. Tarkar A, et al. Among authors: omran h. Nat Genet. 2013 Sep;45(9):995-1003. doi: 10.1038/ng.2707. Epub 2013 Jul 21. Nat Genet. 2013. PMID: 23872636 Free PMC article.
433 results