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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. Among authors: yaakov y. 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. Among authors: yaakov y. 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.
Genetic and electrophysiological characteristics of recurrent acute pancreatitis.
Werlin S, Konikoff FM, Halpern Z, Barkay O, Yerushalmi B, Broide E, Santo E, Shamir R, Shaoul R, Shteyer E, Yaakov Y, Cohen M, Kerem E, Ruszniewski P, Masson E, Ferec C, Wilschanski M. Werlin S, et al. Among authors: yaakov y. J Pediatr Gastroenterol Nutr. 2015 May;60(5):675-9. doi: 10.1097/MPG.0000000000000623. J Pediatr Gastroenterol Nutr. 2015. PMID: 25383785
Nasal potential difference in suspected cystic fibrosis patients with 5T polymorphism.
Aalbers BL, Yaakov Y, Derichs N, Simmonds NJ, De Wachter E, Melotti P, De Boeck K, Leal T, Tümmler B, Wilschanski M, Bronsveld I. Aalbers BL, et al. Among authors: yaakov y. J Cyst Fibros. 2020 Jul;19(4):627-631. doi: 10.1016/j.jcf.2019.07.001. Epub 2019 Jul 19. J Cyst Fibros. 2020. PMID: 31331863 Free article.
Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial.
Kerem E, Hirawat S, Armoni S, Yaakov Y, Shoseyov D, Cohen M, Nissim-Rafinia M, Blau H, Rivlin J, Aviram M, Elfring GL, Northcutt VJ, Miller LL, Kerem B, Wilschanski M. Kerem E, et al. Among authors: yaakov y. Lancet. 2008 Aug 30;372(9640):719-27. doi: 10.1016/S0140-6736(08)61168-X. Epub 2008 Aug 20. Lancet. 2008. PMID: 18722008 Clinical Trial.
19 results