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Primary sclerosing cholangitis is associated with abnormalities in CFTR.
Werlin S, Scotet V, Uguen K, Audrezet MP, Cohen M, Yaakov Y, Safadi R, Ilan Y, Konikoff F, Galun E, Mizrahi M, Slae M, Sayag S, Cohen-Cymberknoh M, Wilschanski M, Ferec C. Werlin S, et al. J Cyst Fibros. 2018 Sep;17(5):666-671. doi: 10.1016/j.jcf.2018.04.005. Epub 2018 May 26. J Cyst Fibros. 2018. PMID: 29807875 Free article.
Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis.
Wilschanski M, Miller LL, Shoseyov D, Blau H, Rivlin J, Aviram M, Cohen M, Armoni S, Yaakov Y, Pugatsch T, Cohen-Cymberknoh M, Miller NL, Reha A, Northcutt VJ, Hirawat S, Donnelly K, Elfring GL, Ajayi T, Kerem E. Wilschanski M, et al. Eur Respir J. 2011 Jul;38(1):59-69. doi: 10.1183/09031936.00120910. Epub 2011 Jan 13. Eur Respir J. 2011. PMID: 21233271 Free article. Clinical Trial.
The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening.
Stafler P, Mei-Zahav M, Wilschanski M, Mussaffi H, Efrati O, Lavie M, Shoseyov D, Cohen-Cymberknoh M, Gur M, Bentur L, Livnat G, Aviram M, Alkrinawi S, Picard E, Prais D, Steuer G, Inbar O, Kerem E, Blau H. Stafler P, et al. J Cyst Fibros. 2016 Jul;15(4):460-6. doi: 10.1016/j.jcf.2015.08.007. Epub 2015 Sep 16. J Cyst Fibros. 2016. PMID: 26386752 Free article.
94 results