These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

106 related articles for article (PubMed ID: 2388486)

  • 1. A simple assay for the screening of the cystic fibrosis allele in carriers of the Phe508 deletion mutation.
    Chong GL; Thibodeau SN
    Mayo Clin Proc; 1990 Aug; 65(8):1072-6. PubMed ID: 2388486
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study.
    Highsmith WE; Chong GL; Orr HT; Perry TR; Schald D; Farber R; Wagner K; Knowles MR; Warwick WJ; Silverman LM
    Clin Chem; 1990 Oct; 36(10):1741-6. PubMed ID: 2208647
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis.
    Trapnell BC; Chu CS; Paakko PK; Banks TC; Yoshimura K; Ferrans VJ; Chernick MS; Crystal RG
    Proc Natl Acad Sci U S A; 1991 Aug; 88(15):6565-9. PubMed ID: 1713683
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Method for rapid, single reaction, direct screening of the delta F508 cystic fibrosis microdeletion.
    Whetsell L; Shaefer F
    Biotechniques; 1992 May; 12(5):698, 701. PubMed ID: 1515137
    [No Abstract]   [Full Text] [Related]  

  • 5. DNA diagnosis of cystic fibrosis by direct detection of the delta F508 mutation.
    Hendrickx J; Wauters J; Coucke P; Vits L; Van der Auwera B; Willems PJ
    Acta Clin Belg; 1991; 46(1):13-7. PubMed ID: 1645913
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rapid detection of single nucleotide deletions: application to the beta 6 (-A) mutation of the beta-globin gene and to cystic fibrosis.
    Romey MC; Aguilar-Martinez P; Demaille J; Claustres M
    Hum Genet; 1993 Dec; 92(6):627-8. PubMed ID: 8262525
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a cystic fibrosis mutation: deletion of isoleucine506.
    Nelson PV; Carey WF; Morris CP
    Hum Genet; 1991 Feb; 86(4):391-3. PubMed ID: 1999342
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Simultaneous detection of two cystic fibrosis alleles using dual-label time-resolved fluorometry.
    Iitiä A; Liukkonen L; Siitari H
    Mol Cell Probes; 1992 Dec; 6(6):505-12. PubMed ID: 1480190
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations.
    Eggerding FA; Iovannisci DM; Brinson E; Grossman P; Winn-Deen ES
    Hum Mutat; 1995; 5(2):153-65. PubMed ID: 7538376
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.
    Kuppuswamy MN; Hoffmann JW; Kasper CK; Spitzer SG; Groce SL; Bajaj SP
    Proc Natl Acad Sci U S A; 1991 Feb; 88(4):1143-7. PubMed ID: 1671714
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cystic fibrosis deletion mutation detected by PCR-mediated site-directed mutagenesis.
    Friedman KJ; Highsmith WE; Prior TW; Perry TR; Silverman LM
    Clin Chem; 1990 Apr; 36(4):695-6. PubMed ID: 2323051
    [No Abstract]   [Full Text] [Related]  

  • 12. Detection of delta F508 mutation of the cystic fibrosis gene by matrix-assisted laser desorption/ionization mass spectrometry.
    Ch'ang LY; Tang K; Schell M; Ringelberg C; Matteson KJ; Allman SL; Chen CH
    Rapid Commun Mass Spectrom; 1995; 9(9):772-4. PubMed ID: 7655070
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.
    DeMarchi JM; Caskey CT; Richards CS
    Hum Mutat; 1996; 8(2):116-25. PubMed ID: 8844209
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Direct gene diagnosis of cystic fibrosis by allele-specific polymerase chain reactions.
    Wagner M; Schloesser M; Reiss J
    Mol Biol Med; 1990 Aug; 7(4):359-64. PubMed ID: 1978221
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Capillary zone electrophoresis of polymerase chain reaction-amplified DNA fragments in polymer networks: the case of GATT microsatellites in cystic fibrosis.
    Gelfi C; Orsi A; Righetti PG; Brancolini V; Cremonesi L; Ferrari M
    Electrophoresis; 1994 May; 15(5):640-3. PubMed ID: 7925242
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis.
    Friedman KJ; Highsmith WE; Silverman LM
    Clin Chem; 1991 May; 37(5):753-5. PubMed ID: 2032331
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rapid nonradioactive detection of the major cystic fibrosis mutation.
    Rommens J; Kerem BS; Greer W; Chang P; Tsui LC; Ray P
    Am J Hum Genet; 1990 Feb; 46(2):395-6. PubMed ID: 2301405
    [No Abstract]   [Full Text] [Related]  

  • 18. Universal community carrier screening for cystic fibrosis?
    Williamson R
    Nat Genet; 1993 Mar; 3(3):195-201. PubMed ID: 8485573
    [TBL] [Abstract][Full Text] [Related]  

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

  • 20. Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.
    Messaoud T; Verlingue C; Denamur E; Pascaud O; Quéré I; Fattoum S; Elion J; Férec C
    Eur J Hum Genet; 1996; 4(1):20-4. PubMed ID: 8800923
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.