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Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.
Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers MA, Ferkol TW, Zariwala MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels MLA, Jones MH, Janahi IA, Ware SM, Daniel SJ, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V; American Thoracic Society Assembly on Pediatrics. Shapiro AJ, et al. Among authors: morgan l. Am J Respir Crit Care Med. 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST. Am J Respir Crit Care Med. 2018. PMID: 29905515 Free PMC article.
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR. Zariwala MA, et al. Among authors: morgan lc. Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. doi: 10.1164/rccm.200603-370OC. Epub 2006 Jul 20. Am J Respir Crit Care Med. 2006. PMID: 16858015 Free PMC article.
Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia.
Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV, Minnix SL, Olbrich H, Severin T, Ahrens P, Lange L, Morillas HN, Noone PG, Zariwala MA, Knowles MR. Kennedy MP, et al. Among authors: morgan l. Circulation. 2007 Jun 5;115(22):2814-21. doi: 10.1161/CIRCULATIONAHA.106.649038. Epub 2007 May 21. Circulation. 2007. PMID: 17515466
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. 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: morgan lc. 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.
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. 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.
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: morgan l. 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.
Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort.
Goutaki M, Halbeisen FS, Spycher BD, Maurer E, Belle F, Amirav I, Behan L, Boon M, Carr S, Casaulta C, Clement A, Crowley S, Dell S, Ferkol T, Haarman EG, Karadag B, Knowles M, Koerner-Rettberg C, Leigh MW, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Phillipsen M, Sagel SD, Santamaria F, Schwerk N, Yiallouros P, Lucas JS, Kuehni CE; PCD Israeli Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases. Goutaki M, et al. Among authors: morgan l. Eur Respir J. 2017 Dec 21;50(6):1701659. doi: 10.1183/13993003.01659-2017. Print 2017 Dec. Eur Respir J. 2017. PMID: 29269581 Free article.
A BEAT-PCD consensus statement: a core outcome set for pulmonary disease interventions in primary ciliary dyskinesia.
Kos R, Goutaki M, Kobbernagel HE, Rubbo B, Shoemark A, Aliberti S, Altenburg J, Anagnostopoulou P, Athanazio RA, Beydon N, Dell SD, Emiralioglu N, Ferkol TW, Loebinger MR, Lorent N, Maître B, Marthin J, Morgan LC, Nielsen KG, Ringshausen FC, Shteinberg M, Tiddens HAWM, Maitland-Van der Zee AH, Chalmers JD, Lucas JSA, Haarman EG. Kos R, et al. ERJ Open Res. 2024 Jan 8;10(1):00115-2023. doi: 10.1183/23120541.00115-2023. eCollection 2024 Jan. ERJ Open Res. 2024. PMID: 38196895 Free PMC article.
1,443 results