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235 related items for PubMed ID: 2295698

  • 1. A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.
    Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E.
    J Clin Invest; 1990 Jan; 85(1):219-22. PubMed ID: 2295698
    [Abstract] [Full Text] [Related]

  • 2. High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease.
    Sorge J, Gross E, West C, Beutler E.
    J Clin Invest; 1990 Oct; 86(4):1137-41. PubMed ID: 1698821
    [Abstract] [Full Text] [Related]

  • 3. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.
    Cormand B, Díaz A, Grinberg D, Chabás A, Vilageliu L.
    Blood Cells Mol Dis; 2000 Oct; 26(5):409-16. PubMed ID: 11112377
    [Abstract] [Full Text] [Related]

  • 4. Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts.
    Choudary PV, Barranger JA, Tsuji S, Mayor J, LaMarca ME, Cepko CL, Mulligan RC, Ginns EI.
    Mol Biol Med; 1986 Jun; 3(3):293-9. PubMed ID: 3736391
    [Abstract] [Full Text] [Related]

  • 5. Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution.
    Beutler E, Gelbart T.
    Ann Hum Genet; 1990 May; 54(2):149-53. PubMed ID: 1974409
    [Abstract] [Full Text] [Related]

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  • 7. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.
    Tayebi N, Callahan M, Madike V, Stubblefield BK, Orvisky E, Krasnewich D, Fillano JJ, Sidransky E.
    Mol Genet Metab; 2001 Aug; 73(4):313-21. PubMed ID: 11509013
    [Abstract] [Full Text] [Related]

  • 8. Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.
    Martínez-Arias R, Comas D, Mateu E, Bertranpetit J.
    Hum Mutat; 2001 Mar; 17(3):191-8. PubMed ID: 11241841
    [Abstract] [Full Text] [Related]

  • 9. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
    Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E.
    Hum Mutat; 2000 Mar; 15(2):181-8. PubMed ID: 10649495
    [Abstract] [Full Text] [Related]

  • 10. [Glucocerebrosidase deficiency--Gaucher's disease].
    Tsuji S.
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):728-33. PubMed ID: 2908399
    [No Abstract] [Full Text] [Related]

  • 11. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.
    Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, LaMarca ME, Sidransky E.
    Am J Hum Genet; 2003 Mar; 72(3):519-34. PubMed ID: 12587096
    [Abstract] [Full Text] [Related]

  • 12. Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.
    Lau EK, Tayebi N, Ingraham LJ, Winfield SL, Koprivica V, Stone DL, Zimran A, Ginns EI, Sidransky E.
    Hum Genet; 1999 Apr; 104(4):293-300. PubMed ID: 10369158
    [Abstract] [Full Text] [Related]

  • 13. 55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.
    Tayebi N, Stern H, Dymarskaia I, Herman J, Sidransky E.
    Am J Med Genet; 1996 Dec 18; 66(3):316-9. PubMed ID: 8985494
    [Abstract] [Full Text] [Related]

  • 14. Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene.
    Sorge J, Gelbart T, West C, Westwood B, Beutler E.
    Proc Natl Acad Sci U S A; 1985 Aug 18; 82(16):5442-5. PubMed ID: 2991926
    [Abstract] [Full Text] [Related]

  • 15. Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease.
    Tayebi N, Cushner S, Sidransky E.
    Am J Hum Genet; 1996 Sep 18; 59(3):740-1. PubMed ID: 8751878
    [No Abstract] [Full Text] [Related]

  • 16. Glucocerebrosidase "processing" and gene expression in various forms of Gaucher disease.
    Beutler E, Kuhl W, Sorge J.
    Am J Hum Genet; 1985 Nov 18; 37(6):1062-70. PubMed ID: 4083278
    [Abstract] [Full Text] [Related]

  • 17. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.
    Beutler E, Gelbart T.
    Hum Mutat; 1994 Nov 18; 4(3):212-6. PubMed ID: 7833951
    [Abstract] [Full Text] [Related]

  • 18. The human glucocerebrosidase gene and pseudogene: structure and evolution.
    Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E.
    Genomics; 1989 Jan 18; 4(1):87-96. PubMed ID: 2914709
    [Abstract] [Full Text] [Related]

  • 19. A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.
    Imai K, Nakamura M, Yamada M, Asano A, Yokoyama S, Tsuji S, Ginns EI.
    Gene; 1993 Dec 22; 136(1-2):365-8. PubMed ID: 8294033
    [Abstract] [Full Text] [Related]

  • 20. Sequence of two alleles responsible for Gaucher disease.
    Hong CM, Ohashi T, Yu XJ, Weiler S, Barranger JA.
    DNA Cell Biol; 1990 May 22; 9(4):233-41. PubMed ID: 1972019
    [Abstract] [Full Text] [Related]

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