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399 related items for PubMed ID: 1695717

  • 1. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
    Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH.
    Nature; 1990 Jul 26; 346(6282):366-9. PubMed ID: 1695717
    [Abstract] [Full Text] [Related]

  • 2. A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator.
    Kälin N, Dörk T, Tümmler B.
    Hum Mutat; 1992 Jul 26; 1(3):204-10. PubMed ID: 1284535
    [Abstract] [Full Text] [Related]

  • 3. A frame-shift mutation in the cystic fibrosis gene.
    White MB, Amos J, Hsu JM, Gerrard B, Finn P, Dean M.
    Nature; 1990 Apr 12; 344(6267):665-7. PubMed ID: 1691449
    [Abstract] [Full Text] [Related]

  • 4. A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.
    Will K, Dörk T, Stuhrmann M, Meitinger T, Bertele-Harms R, Tümmler B, Schmidtke J.
    J Clin Invest; 1994 Apr 12; 93(4):1852-9. PubMed ID: 7512993
    [Abstract] [Full Text] [Related]

  • 5. Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.
    Chu CS, Trapnell BC, Curristin SM, Cutting GR, Crystal RG.
    J Clin Invest; 1992 Sep 12; 90(3):785-90. PubMed ID: 1381723
    [Abstract] [Full Text] [Related]

  • 6. Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Strong TV, Smit LS, Nasr S, Wood DL, Cole JL, Iannuzzi MC, Stern RC, Collins FS.
    Hum Mutat; 1992 Sep 12; 1(5):380-7. PubMed ID: 1284540
    [Abstract] [Full Text] [Related]

  • 7. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.
    Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR.
    J Clin Invest; 1991 Dec 12; 88(6):1880-5. PubMed ID: 1721624
    [Abstract] [Full Text] [Related]

  • 8. Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.
    Kerem E.
    Pediatr Pulmonol; 2005 Sep 12; 40(3):183-96. PubMed ID: 15880796
    [Abstract] [Full Text] [Related]

  • 9. [The cystic fibrosis gene, its product CFTR protein and its mutations].
    Goossens M, Fanen P, Costes B, Ghanem N.
    Bull Acad Natl Med; 1993 Mar 12; 177(3):371-80; discussion 380-1. PubMed ID: 7689915
    [Abstract] [Full Text] [Related]

  • 10. Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.
    Verlingue C, Kapranov NI, Mercier B, Ginter EK, Petrova NV, Audrezet MP, Férec C.
    Hum Mutat; 1995 Mar 12; 5(3):205-9. PubMed ID: 7541273
    [Abstract] [Full Text] [Related]

  • 11. Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations.
    Ravnik-Glavac M, Glavac D, Komel R, Dean M.
    Hum Mutat; 1993 Mar 12; 2(4):286-92. PubMed ID: 7691352
    [Abstract] [Full Text] [Related]

  • 12. Molecular genetic analysis of Turkish cystic fibrosis patients.
    Köprübasi FF, Malik N, Bösch-al-Jadooa N, Alkan M, Tanac R, Bühler E.
    Ann Genet; 1993 Mar 12; 36(3):144-9. PubMed ID: 8117058
    [Abstract] [Full Text] [Related]

  • 13. Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.
    Shackleton S, Hull J, Dear S, Seller A, Thomson A, Harris A.
    Hum Mutat; 1994 Mar 12; 3(2):141-51. PubMed ID: 7515303
    [Abstract] [Full Text] [Related]

  • 14.
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  • 15. Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC.
    Hum Mutat; 1995 Mar 12; 5(1):43-7. PubMed ID: 7537150
    [Abstract] [Full Text] [Related]

  • 16. Mutation specific therapy in CF.
    Kerem E.
    Paediatr Respir Rev; 2006 Mar 12; 7 Suppl 1():S166-9. PubMed ID: 16798551
    [Abstract] [Full Text] [Related]

  • 17. Direct interaction of a small-molecule modulator with G551D-CFTR, a cystic fibrosis-causing mutation associated with severe disease.
    Pasyk S, Li C, Ramjeesingh M, Bear CE.
    Biochem J; 2009 Feb 15; 418(1):185-90. PubMed ID: 18945216
    [Abstract] [Full Text] [Related]

  • 18. Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.
    Tsui LC.
    Hum Mutat; 1992 Feb 15; 1(3):197-203. PubMed ID: 1284534
    [Abstract] [Full Text] [Related]

  • 19. Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).
    Chillón M, Casals T, Giménez J, Nunes V, Estivill X.
    Hum Mutat; 1994 Feb 15; 3(3):223-30. PubMed ID: 7517264
    [Abstract] [Full Text] [Related]

  • 20. [The cystic fibrosis gene: mutation and the function of CFTR protein].
    Goossens M.
    Ann Pediatr (Paris); 1991 Nov 15; 38(9):591-4. PubMed ID: 1721508
    [Abstract] [Full Text] [Related]

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