未登录 Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis? Ooi, Chee Y.; Dupuis, Annie; Ellis, Lynda; Jarvi, Keith; Martin, Sheelagh; Ray, Peter N.; Steele, Leslie; Kortan, Paul; Gonska, Tanja; Dorfman, Ruslan; Solomon, Melinda; Zielenski, Julian; Corey, Mary; Tullis, Elizabeth; Durie, Peter 分享 收藏
Role of Cystic Fibrosis Transmembrane Conductance Regulator in Patients With Chronic Sinopulmonary Disease Gonska, Tanja; Choi, Perry; Stephenson, Anne; Ellis, Lynda; Martin, Sheelagh; Solomon, Melinda; Dupuis, Annie; Dorfman, Ruslan; Zielenski, Julian; Ooi, Chee Y.; Weiser, William; Durie, Peter R.; Tullis, Elizabeth 分享 收藏
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis Sun, Lei; Rommens, Johanna M.; Corvol, Harriet; Li, Weili; Li, Xin; Chiang, Theodore A.; Lin, Fan; Dorfman, Ruslan; Busson, Pierre-Francois; Parekh, Rashmi V.; Zelenika, Diana; Blackman, Scott M.; Corey, Mary; Doshi, Vishal K.; Henderson, Lindsay; Naughton, Kathleen M.; O'Neal, Wanda K.; Pace, Rhonda G.; Stonebraker, Jaclyn R.; Wood, Sally D.; Wright, Fred A.; Zielenski, Julian; Clement, Annick; Drumm, Mitchell L.; Boelle, Pierre-Yves; Cutting, Garry R.; Knowles, Michael R.; Durie, Peter R.; Strug, Lisa J. 分享 收藏
Recommendations for the classification of diseases as CFTR-related disorders Bombieri, C.; Claustres, M.; De Boeck, K.; Derichs, N.; Dodge, J.; Girodon, E.; Sermet, I.; Schwarz, M.; Tzetis, M.; Wilschanski, M.; Bareil, C.; Bilton, D.; Castellani, C.; Cuppens, H.; Cutting, G. R.; Drevinek, P.; Farrell, P.; Elborn, J. S.; Jarvi, K.; Kerem, B.; Kerem, E.; Knowles, M.; Macek, M., Jr.; Munck, A.; Radojkovic, D.; Seia, M.; Sheppard, D. N.; Southern, K. W.; Stuhrmann, M.; Tullis, E.; Zielenski, J.; Pignatti, P. F.; Ferec, C. 分享 收藏
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 Wright, Fred A.; Strug, Lisa J.; Doshi, Vishal K.; Commander, Clayton W.; Blackman, Scott M.; Sun, Lei; Berthiaume, Yves; Cutler, David; Cojocaru, Andreea; Collaco, J. Michael; Corey, Mary; Dorfman, Ruslan; Goddard, Katrina; Green, Deanna; Kent, Jack W., Jr.; Lange, Ethan M.; Lee, Seunggeun; Li, Weili; Luo, Jingchun; Mayhew, Gregory M.; Naughton, Kathleen M.; Pace, Rhonda G.; Pare, Peter; Rommens, Johanna M.; Sandford, Andrew; Stonebraker, Jaclyn R.; Sun, Wei; Taylor, Chelsea; Vanscoy, Lori L.; Zou, Fei; Blangero, John; Zielenski, Julian; O'Neal, Wanda K.; Drumm, Mitchell L.; Durie, Peter R.; Knowles, Michael R.; Cutting, Garry R. 分享 收藏
Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection Park, J. E.; Yung, R.; Stefanowicz, D.; Shumansky, K.; Akhabir, L.; Durie, P. R.; Corey, M.; Zielenski, J.; Dorfman, R.; Daley, D.; Sandford, A. J. 分享 收藏
Type of CFTR Mutation Determines Risk of Pancreatitis in Patients With Cystic Fibrosis Ooi, Chee Y.; Dorfman, Ruslan; Cipolli, Marco; Gonska, Tanja; Castellani, Carlo; Keenan, Katherine; Freedman, Steven D.; Zielenski, Julian; Berthiaume, Yves; Corey, Mary; Schibli, Susanne; Tullis, Elizabeth; Durie, Peter R. 分享 收藏
TLR5 as an Anti-Inflammatory Target and Modifier Gene in Cystic Fibrosis Blohmke, Christoph J.; Park, Julie; Hirschfeld, Aaron F.; Victor, Rachel E.; Schneiderman, Julia; Stefanowicz, Dorota; Chilvers, Mark A.; Durie, Peter R.; Corey, Mary; Zielenski, Julian; Dorfman, Ruslan; Sandford, Andrew J.; Daley, Denise; Turvey, Stuart E. 分享 收藏
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results Dorfman, Ruslan; Li, Weili; Sun, Lei; Lin, Fan; Wang, Yongqian; Sandford, Andrew; Pare, Peter D.; McKay, Karen; Kayserova, Hana; Piskackova, Tereza; Macek, Milan; Czerska, Kamila; Sands, Dorota; Tiddens, Harm; Margarit, Sonia; Repetto, Gabriela; Sontag, Marci K.; Accurso, Frank J.; Blackman, Scott; Cutting, Garry R.; Tsui, Lap-Chee; Corey, Mary; Durie, Peter; Zielenski, Julian; Strug, Lisa J. 分享 收藏
Normalization of obesity-associated insulin resistance through immunotherapy Winer, Shawn; Chan, Yin; Paltser, Geoffrey; Truong, Dorothy; Tsui, Hubert; Bahrami, Jasmine; Dorfman, Ruslan; Wang, Yongqian; Zielenski, Julian; Mastronardi, Fabrizio; Maezawa, Yuko; Drucker, Daniel J.; Engleman, Edgar; Winer, Daniel; Dosch, H. -Michael 分享 收藏
A systematic analysis of intronic sequences downstream of 5′ splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation Aznarez, Isabel; Barash, Yoseph; Shai, Ofer; He, David; Zielenski, Julian; Tsui, Lap-Chee; Parkinson, John; Frey, Brendan J.; Rommens, Johanna M.; Blencowe, Benjamin J. 分享 收藏
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice Castellani, C.; Cuppens, H.; Macek, M., Jr.; Cassinian, J. J.; Kerern, E.; Durie, P.; Tullis, E.; Assael, B. M.; Bombieri, C.; Brown, A.; Casals, T.; Claustres, M.; Cutting, G. R.; Dequeker, E.; Dodge, J.; Doull, I.; Farrell, P.; Ferec, C.; Girodon, E.; Johannesson, M.; Kerem, B.; Knowles, M.; Munck, A.; Pignatti, P. F.; Radojkovic, D.; Rizzotti, P.; Schwarz, M.; Stuhnnann, M.; Tzetis, M.; Zielenski, J.; Elborn, J. S. 分享 收藏
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PhenCode:: Connecting ENCODE data with mutations and phenotype PhenCode:: 将编码数据与突变和表型连接起来 Giardine, Belinda; Riemer, Cathy; Hefferon, Tim; Thomas, Daryl; Hsu, Fan; Zielenski, Julian; Sang, Yunhua; Elnitski, Laura; Cutting, Garry; Trumbower, Heather; Kern, Andrew; Kuhn, Robert; Patrinos, George P.; Hughes, Jim; Higgs, Doug; Chui, David; Scriver, Charles; Phommarinh, Manyphong; Patnaik, Santosh K.; Blumenfeld, Olga; Gottlieb, Bruce; Vihinen, Mauno; Valiaho, Jouni; Kent, Jim; Miller, Webb; Hardison, Ross C. 分享 收藏
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials Wilschanski, Michael; Dupuis, Annie; Ellis, Lynda; Jarvi, Keith; Zielenski, Julian; Tullis, Elizabeth; Martin, Sheelagh; Corey, Mary; Tsui, Lap-Chee; Durie, Peter 分享 收藏
Phenotype definition for the analysis of modifier genes in cystic fibrosis. Taylor, C.; Corey, M.; Zielenski, J.; Breaton, J.; Rousseau, R.; VanSpall, M.; Christofi, M.; Frangolias, D.; Dorfman, R.; Sang, R.; Sandford, A.; Pare, P.; Durie, P. 分享 收藏
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Genetic modifiers of lung disease in cystic fibrosis Drumm, ML; Konstan, MW; Schluchter, MD; Handler, A; Pace, R; Zou, F; Zariwala, M; Fargo, D; Xu, AR; Dunn, JM; Darrah, RJ; Dorfman, R; Sandford, AJ; Corey, M; Zielenski, J; Durie, P; Goddard, K; Yankaskas, JR; Wright, FA; Knowles, MR 分享 收藏
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