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Page 1
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
Prach L, Koepke R, Kharrazi M, Keiles S, Salinas DB, Reyes MC, Pian M, Opsimos H, Otsuka KN, Hardy KA, Milla CE, Zirbes JM, Chipps B, O'Bra S, Saeed MM, Sudhakar R, Lehto S, Nielson D, Shay GF, Seastrand M, Jhawar S, Nickerson B, Landon C, Thompson A, Nussbaum E, Chin T, Wojtczak H; California Cystic Fibrosis Newborn Screening Consortium. Prach L, et al. Among authors: zirbes jm. J Mol Diagn. 2013 Sep;15(5):710-22. doi: 10.1016/j.jmoldx.2013.05.006. Epub 2013 Jun 28. J Mol Diagn. 2013. PMID: 23810505 Free PMC article.
Cystic fibrosis related diabetes.
Zirbes J, Milla CE. Zirbes J, et al. Paediatr Respir Rev. 2009 Sep;10(3):118-23; quiz 123. doi: 10.1016/j.prrv.2009.04.004. Epub 2009 Jul 14. Paediatr Respir Rev. 2009. PMID: 19651382 Review.
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Knowles MR, et al. Am J Hum Genet. 2013 Jan 10;92(1):99-106. doi: 10.1016/j.ajhg.2012.11.003. Epub 2012 Dec 20. Am J Hum Genet. 2013. PMID: 23261302 Free PMC article.
Azithromycin for Early Pseudomonas Infection in Cystic Fibrosis. The OPTIMIZE Randomized Trial.
Mayer-Hamblett N, Retsch-Bogart G, Kloster M, Accurso F, Rosenfeld M, Albers G, Black P, Brown P, Cairns A, Davis SD, Graff GR, Kerby GS, Orenstein D, Buckingham R, Ramsey BW; OPTIMIZE Study Group. Mayer-Hamblett N, et al. Am J Respir Crit Care Med. 2018 Nov 1;198(9):1177-1187. doi: 10.1164/rccm.201802-0215OC. Am J Respir Crit Care Med. 2018. PMID: 29890086 Free PMC article. Clinical Trial.
14 results