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The cystic fibrosis gene: a molecular genetic perspective.
Tsui LC, Dorfman R. Tsui LC, et al. Among authors: dorfman r. Cold Spring Harb Perspect Med. 2013 Feb 1;3(2):a009472. doi: 10.1101/cshperspect.a009472. Cold Spring Harb Perspect Med. 2013. PMID: 23378595 Free PMC article. Review.
Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis.
Ooi CY, Dorfman R, Cipolli M, Gonska T, Castellani C, Keenan K, Freedman SD, Zielenski J, Berthiaume Y, Corey M, Schibli S, Tullis E, Durie PR. Ooi CY, et al. Among authors: dorfman r. Gastroenterology. 2011 Jan;140(1):153-61. doi: 10.1053/j.gastro.2010.09.046. Epub 2010 Nov 9. Gastroenterology. 2011. PMID: 20923678
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR. Sosnay PR, et al. Among authors: dorfman r. Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974870 Free PMC article.
Evaluation of the disease liability of CFTR variants.
Sosnay PR, Castellani C, Corey M, Dorfman R, Zielenski J, Karchin R, Penland CM, Cutting GR. Sosnay PR, et al. Among authors: dorfman r. Methods Mol Biol. 2011;742:355-72. doi: 10.1007/978-1-61779-120-8_21. Methods Mol Biol. 2011. PMID: 21547743
A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis genetic modifier studies.
Taylor C, Commander CW, Collaco JM, Strug LJ, Li W, Wright FA, Webel AD, Pace RG, Stonebraker JR, Naughton K, Dorfman R, Sandford A, Blackman SM, Berthiaume Y, Paré P, Drumm ML, Zielenski J, Durie P, Cutting GR, Knowles MR, Corey M. Taylor C, et al. Among authors: dorfman r. Pediatr Pulmonol. 2011 Sep;46(9):857-69. doi: 10.1002/ppul.21456. Epub 2011 Apr 1. Pediatr Pulmonol. 2011. PMID: 21462361 Free PMC article.
Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?
Ooi CY, Dupuis A, Ellis L, Jarvi K, Martin S, Ray PN, Steele L, Kortan P, Gonska T, Dorfman R, Solomon M, Zielenski J, Corey M, Tullis E, Durie P. Ooi CY, et al. Among authors: dorfman r. Thorax. 2014 Mar;69(3):254-60. doi: 10.1136/thoraxjnl-2013-203832. Epub 2013 Oct 21. Thorax. 2014. PMID: 24149827
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.
Sun L, Rommens JM, Corvol H, Li W, Li X, Chiang TA, Lin F, Dorfman R, Busson PF, Parekh RV, Zelenika D, Blackman SM, Corey M, Doshi VK, Henderson L, Naughton KM, O'Neal WK, Pace RG, Stonebraker JR, Wood SD, Wright FA, Zielenski J, Clement A, Drumm ML, Boëlle PY, Cutting GR, Knowles MR, Durie PR, Strug LJ. Sun L, et al. Among authors: dorfman r. Nat Genet. 2012 May;44(5):562-9. doi: 10.1038/ng.2221. Nat Genet. 2012. PMID: 22466613 Free PMC article.
575 results