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Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k; Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM. Antony D, et al. Among authors: knowles mr. Hum Mutat. 2013 Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 11. Hum Mutat. 2013. PMID: 23255504 Free PMC article.
High-resolution CT of patients with primary ciliary dyskinesia.
Kennedy MP, Noone PG, Leigh MW, Zariwala MA, Minnix SL, Knowles MR, Molina PL. Kennedy MP, et al. Among authors: knowles mr. AJR Am J Roentgenol. 2007 May;188(5):1232-8. doi: 10.2214/AJR.06.0965. AJR Am J Roentgenol. 2007. PMID: 17449765
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: knowles mr. Circulation. 2007 Jun 5;115(22):2814-21. doi: 10.1161/CIRCULATIONAHA.106.649038. Epub 2007 May 21. Circulation. 2007. PMID: 17515466
Primary ciliary dyskinesia: improving the diagnostic approach.
Leigh MW, Zariwala MA, Knowles MR. Leigh MW, et al. Among authors: knowles mr. Curr Opin Pediatr. 2009 Jun;21(3):320-5. doi: 10.1097/MOP.0b013e328329cddb. Curr Opin Pediatr. 2009. PMID: 19300264 Free PMC article. Review.
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
Loges NT, Olbrich H, Becker-Heck A, Häffner K, Heer A, Reinhard C, Schmidts M, Kispert A, Zariwala MA, Leigh MW, Knowles MR, Zentgraf H, Seithe H, Nürnberg G, Nürnberg P, Reinhardt R, Omran H. Loges NT, et al. Among authors: knowles mr. Am J Hum Genet. 2009 Dec;85(6):883-9. doi: 10.1016/j.ajhg.2009.10.018. Am J Hum Genet. 2009. PMID: 19944400 Free PMC article.
Primary ciliary dyskinesia in Amish communities.
Lie H, Zariwala MA, Helms C, Bowcock AM, Carson JL, Brown DE 3rd, Hazucha MJ, Forsen J, Molter D, Knowles MR, Leigh MW, Ferkol TW. Lie H, et al. Among authors: knowles mr. J Pediatr. 2010 Jun;156(6):1023-1025. doi: 10.1016/j.jpeds.2010.01.054. Epub 2010 Mar 29. J Pediatr. 2010. PMID: 20350728 Free PMC article.
309 results