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Genetic defects in ciliary structure and function.
Zariwala MA, Knowles MR, Omran H. Zariwala MA, et al. Among authors: knowles mr. Annu Rev Physiol. 2007;69:423-50. doi: 10.1146/annurev.physiol.69.040705.141301. Annu Rev Physiol. 2007. PMID: 17059358 Review.
Primary ciliary dyskinesia: diagnostic and phenotypic features.
Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, Zariwala MA, Knowles MR. Noone PG, et al. Among authors: knowles mr. Am J Respir Crit Care Med. 2004 Feb 15;169(4):459-67. doi: 10.1164/rccm.200303-365OC. Epub 2003 Dec 4. Am J Respir Crit Care Med. 2004. PMID: 14656747
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: knowles mr. 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.
Mutations in DNAI1 (IC78) cause primary ciliary dyskinesia.
Noone PG, Zariwala M, Sannuti A, Minnix S, Leigh MW, Carson J, Knowles MR. Noone PG, et al. Among authors: knowles mr. Chest. 2002 Mar;121(3 Suppl):97S. Chest. 2002. PMID: 11893720 No abstract available.
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H. Hornef N, et al. Among authors: knowles mr. Am J Respir Crit Care Med. 2006 Jul 15;174(2):120-6. doi: 10.1164/rccm.200601-084OC. Epub 2006 Apr 20. Am J Respir Crit Care Med. 2006. PMID: 16627867 Free PMC article.
Calcium stone lithoptysis in primary ciliary dyskinesia.
Kennedy MP, Noone PG, Carson J, Molina PL, Ghio A, Zariwala MA, Minnix SL, Knowles MR. Kennedy MP, et al. Among authors: knowles mr. Respir Med. 2007 Jan;101(1):76-83. doi: 10.1016/j.rmed.2006.04.007. Epub 2006 Jun 6. Respir Med. 2007. PMID: 16757159 Free article.
315 results