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424 related items for PubMed ID: 7560099

  • 1. A mouse model for the delta F508 allele of cystic fibrosis.
    Zeiher BG, Eichwald E, Zabner J, Smith JJ, Puga AP, McCray PB, Capecchi MR, Welsh MJ, Thomas KR.
    J Clin Invest; 1995 Oct; 96(4):2051-64. PubMed ID: 7560099
    [Abstract] [Full Text] [Related]

  • 2. A delta F508 mutation in mouse cystic fibrosis transmembrane conductance regulator results in a temperature-sensitive processing defect in vivo.
    French PJ, van Doorninck JH, Peters RH, Verbeek E, Ameen NA, Marino CR, de Jonge HR, Bijman J, Scholte BJ.
    J Clin Invest; 1996 Sep 15; 98(6):1304-12. PubMed ID: 8823295
    [Abstract] [Full Text] [Related]

  • 3. Generation and characterization of a delta F508 cystic fibrosis mouse model.
    Colledge WH, Abella BS, Southern KW, Ratcliff R, Jiang C, Cheng SH, MacVinish LJ, Anderson JR, Cuthbert AW, Evans MJ.
    Nat Genet; 1995 Aug 15; 10(4):445-52. PubMed ID: 7545494
    [Abstract] [Full Text] [Related]

  • 4. Dysfunction of CFTR bearing the delta F508 mutation.
    Welsh MJ, Denning GM, Ostedgaard LS, Anderson MP.
    J Cell Sci Suppl; 1993 Aug 15; 17():235-9. PubMed ID: 7511616
    [Abstract] [Full Text] [Related]

  • 5. Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation.
    Dalemans W, Barbry P, Champigny G, Jallat S, Dott K, Dreyer D, Crystal RG, Pavirani A, Lecocq JP, Lazdunski M.
    Nature; 1993 Aug 15; 354(6354):526-8. PubMed ID: 1722027
    [Abstract] [Full Text] [Related]

  • 6. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive.
    Denning GM, Anderson MP, Amara JF, Marshall J, Smith AE, Welsh MJ.
    Nature; 1992 Aug 27; 358(6389):761-4. PubMed ID: 1380673
    [Abstract] [Full Text] [Related]

  • 7. The cystic fibrosis mutation (delta F508) does not influence the chloride channel activity of CFTR.
    Li C, Ramjeesingh M, Reyes E, Jensen T, Chang X, Rommens JM, Bear CE.
    Nat Genet; 1993 Apr 27; 3(4):311-6. PubMed ID: 7526932
    [Abstract] [Full Text] [Related]

  • 8. [Correlation between phenotype and genotype in a group of patients with cystic fibrosis].
    Navarro H, Kolbach M, Repetto G, Guiraldes E, Harris P, Foradori A, Poggi H, Sánchez I.
    Rev Med Chil; 2002 May 27; 130(5):475-81. PubMed ID: 12143267
    [Abstract] [Full Text] [Related]

  • 9. [A molecular study of the delta-F508 mutation and genetic analysis of a sample of cystic fibrosis patients].
    Orozco L, Lezana JL, Chávez M, Valdez H, Moreno M, Carnevale A.
    Bol Med Hosp Infant Mex; 1993 Jul 27; 50(7):457-62. PubMed ID: 7689846
    [Abstract] [Full Text] [Related]

  • 10. Normal function of the cystic fibrosis conductance regulator protein can be associated with homozygous (Delta)F508 mutation.
    Sermet-Gaudelus I, Vallée B, Urbin I, Torossi T, Marianovski R, Fajac A, Feuillet MN, Bresson JL, Lenoir G, Bernaudin JF, Edelman A.
    Pediatr Res; 2002 Nov 27; 52(5):628-35. PubMed ID: 12409506
    [Abstract] [Full Text] [Related]

  • 11. Cystic fibrosis transmembrane conductance regulator (CFTR) and renal function.
    Stanton BA.
    Wien Klin Wochenschr; 1997 Jun 27; 109(12-13):457-64. PubMed ID: 9261986
    [Abstract] [Full Text] [Related]

  • 12. An abnormal distribution of delta F508 genotypes in cystic fibrosis patient registries.
    Feingold J, Guilloud-Bataille M, De Crozes D.
    Ann Genet; 1998 Jun 27; 41(1):31-3. PubMed ID: 9599649
    [Abstract] [Full Text] [Related]

  • 13. [Molecular-genetic analysis of certain mutations of the "cystic fibrosis gene" in Moldavia. Characteristics of molecular markers and their linkage with various mutations].
    Gimbovskaia SD, Kalinin VN, Ivashchenko TE, Baranov VS.
    Genetika; 1994 Dec 27; 30(12):1616-20. PubMed ID: 7534245
    [Abstract] [Full Text] [Related]

  • 14. [Frequency of delta F508 mutation in Venezuelan patients with cystic fibrosis].
    Morales-Machin A, Borjas-Fajardo L, Pineda L, González S, Delgado W, Zabala W, Fernández E.
    Invest Clin; 2004 Jun 27; 45(2):121-30. PubMed ID: 15211979
    [Abstract] [Full Text] [Related]

  • 15. Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland.
    Kartner N, Augustinas O, Jensen TJ, Naismith AL, Riordan JR.
    Nat Genet; 1992 Aug 27; 1(5):321-7. PubMed ID: 1284548
    [Abstract] [Full Text] [Related]

  • 16. Expression of delta F508 cystic fibrosis transmembrane conductance regulator protein and related chloride transport properties in the gallbladder epithelium from cystic fibrosis patients.
    Dray-Charier N, Paul A, Scoazec JY, Veissière D, Mergey M, Capeau J, Soubrane O, Housset C.
    Hepatology; 1999 Jun 27; 29(6):1624-34. PubMed ID: 10347100
    [Abstract] [Full Text] [Related]

  • 17. Partial correction of endogenous DeltaF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing.
    Liu X, Jiang Q, Mansfield SG, Puttaraju M, Zhang Y, Zhou W, Cohn JA, Garcia-Blanco MA, Mitchell LG, Engelhardt JF.
    Nat Biotechnol; 2002 Jan 27; 20(1):47-52. PubMed ID: 11753361
    [Abstract] [Full Text] [Related]

  • 18. A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.
    Dörk T, Will K, Grade K, Krawczak M, Tümmler B.
    Hum Mutat; 1994 Jan 27; 4(1):65-70. PubMed ID: 7524915
    [Abstract] [Full Text] [Related]

  • 19. Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.
    Shoshani T, Kerem E, Szeinberg A, Augarten A, Yahav Y, Cohen D, Rivlin J, Tal A, Kerem B.
    J Clin Invest; 1994 Apr 27; 93(4):1502-7. PubMed ID: 7512981
    [Abstract] [Full Text] [Related]

  • 20. [Detection of frequent mutations of the CFTR gene in cystic fibrosis patients from Central Russia].
    Petrova NV, Kapranov NI, Ginter EK.
    Genetika; 1997 Jan 27; 33(1):106-9. PubMed ID: 9162681
    [Abstract] [Full Text] [Related]

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