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Journal Abstract Search

608 related items for PubMed ID: 14534336

  • 1. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations.
    Wilschanski M, Yahav Y, Yaacov Y, Blau H, Bentur L, Rivlin J, Aviram M, Bdolah-Abram T, Bebok Z, Shushi L, Kerem B, Kerem E.
    N Engl J Med; 2003 Oct 09; 349(15):1433-41. PubMed ID: 14534336
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  • 6. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis.
    Clancy JP, Bebök Z, Ruiz F, King C, Jones J, Walker L, Greer H, Hong J, Wing L, Macaluso M, Lyrene R, Sorscher EJ, Bedwell DM.
    Am J Respir Crit Care Med; 2001 Jun 09; 163(7):1683-92. PubMed ID: 11401894
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  • 8. Mutation specific therapy in CF.
    Kerem E.
    Paediatr Respir Rev; 2006 Jun 09; 7 Suppl 1():S166-9. PubMed ID: 16798551
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  • 9. 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.
    Lancet; 2008 Aug 30; 372(9640):719-27. PubMed ID: 18722008
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  • 10. Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin.
    Linde L, Boelz S, Nissim-Rafinia M, Oren YS, Wilschanski M, Yaacov Y, Virgilis D, Neu-Yilik G, Kulozik AE, Kerem E, Kerem B.
    J Clin Invest; 2007 Mar 30; 117(3):683-92. PubMed ID: 17290305
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  • 11. No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations.
    Clancy JP, Rowe SM, Bebok Z, Aitken ML, Gibson R, Zeitlin P, Berclaz P, Moss R, Knowles MR, Oster RA, Mayer-Hamblett N, Ramsey B.
    Am J Respir Cell Mol Biol; 2007 Jul 30; 37(1):57-66. PubMed ID: 17347447
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  • 12. A placebo-controlled study of liposome-mediated gene transfer to the nasal epithelium of patients with cystic fibrosis.
    Gill DR, Southern KW, Mofford KA, Seddon T, Huang L, Sorgi F, Thomson A, MacVinish LJ, Ratcliff R, Bilton D, Lane DJ, Littlewood JM, Webb AK, Middleton PG, Colledge WH, Cuthbert AW, Evans MJ, Higgins CF, Hyde SC.
    Gene Ther; 1997 Mar 30; 4(3):199-209. PubMed ID: 9135733
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  • 13. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.
    Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS.
    N Engl J Med; 1998 Sep 03; 339(10):653-8. PubMed ID: 9725922
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  • 14. Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
    Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR.
    N Engl J Med; 2002 Aug 08; 347(6):401-7. PubMed ID: 12167682
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  • 15. Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.
    Stanke F, Ballmann M, Bronsveld I, Dörk T, Gallati S, Laabs U, Derichs N, Ritzka M, Posselt HG, Harms HK, Griese M, Blau H, Mastella G, Bijman J, Veeze H, Tümmler B.
    J Med Genet; 2008 Jan 08; 45(1):47-54. PubMed ID: 18178635
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  • 18. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.
    Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorvoy JD, Quittel L, Friedman KJ, Silverman LM.
    N Engl J Med; 1994 Oct 13; 331(15):974-80. PubMed ID: 7521937
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  • 19. Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene.
    Du M, Jones JR, Lanier J, Keeling KM, Lindsey JR, Tousson A, Bebök Z, Whitsett JA, Dey CR, Colledge WH, Evans MJ, Sorscher EJ, Bedwell DM.
    J Mol Med (Berl); 2002 Sep 13; 80(9):595-604. PubMed ID: 12226741
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  • 20. Repeat administration of DNA/liposomes to the nasal epithelium of patients with cystic fibrosis.
    Hyde SC, Southern KW, Gileadi U, Fitzjohn EM, Mofford KA, Waddell BE, Gooi HC, Goddard CA, Hannavy K, Smyth SE, Egan JJ, Sorgi FL, Huang L, Cuthbert AW, Evans MJ, Colledge WH, Higgins CF, Webb AK, Gill DR.
    Gene Ther; 2000 Jul 13; 7(13):1156-65. PubMed ID: 10918483
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