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Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.
Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, Rosenfeld M, Olivier KN, Milla C, Daniel SJ, Kimple AJ, Manion M, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Shapiro AJ, et al. Pediatr Pulmonol. 2016 Feb;51(2):115-32. doi: 10.1002/ppul.23304. Epub 2015 Sep 29. Pediatr Pulmonol. 2016. PMID: 26418604 Free PMC article. Review.
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: shapiro aj. 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.
Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.
Leigh MW, Hazucha MJ, Chawla KK, Baker BR, Shapiro AJ, Brown DE, Lavange LM, Horton BJ, Qaqish B, Carson JL, Davis SD, Dell SD, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Rosenfeld M, Milla C, Lee HS, Krischer J, Zariwala MA, Knowles MR. Leigh MW, et al. Among authors: shapiro aj. Ann Am Thorac Soc. 2013 Dec;10(6):574-81. doi: 10.1513/AnnalsATS.201305-110OC. Ann Am Thorac Soc. 2013. PMID: 24024753 Free PMC article.
Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.
Shapiro AJ, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier KN, Sagel SD, Milla C, Zariwala MA, Wolf W, Carson JL, Hazucha MJ, Burns K, Robinson B, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Shapiro AJ, et al. Chest. 2014 Nov;146(5):1176-1186. doi: 10.1378/chest.13-1704. Chest. 2014. PMID: 24577564 Free PMC article. Clinical Trial.
Response.
Shapiro AJ, Leigh MW. Shapiro AJ, et al. Chest. 2014 Nov;146(5):e167-8. doi: 10.1378/chest.14-1282. Chest. 2014. PMID: 25367486 No abstract available.
Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.
Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, Milla C, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer JP, Hazucha MJ, Cooper ML, Knowles MR, Leigh MW. Davis SD, et al. Among authors: shapiro aj. Am J Respir Crit Care Med. 2015 Feb 1;191(3):316-24. doi: 10.1164/rccm.201409-1672OC. Am J Respir Crit Care Med. 2015. PMID: 25493340 Free PMC article.
Congenital Heart Disease and Primary Ciliary Dyskinesia.
Harrison MJ, Shapiro AJ, Kennedy MP. Harrison MJ, et al. Among authors: shapiro aj. Paediatr Respir Rev. 2016 Mar;18:25-32. doi: 10.1016/j.prrv.2015.09.003. Epub 2015 Sep 26. Paediatr Respir Rev. 2016. PMID: 26545972 Review.
125 results