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Journal Abstract Search

166 related items for PubMed ID: 2698300

  • 1. [Molecular genetic approaches to neurologic diseases].
    Tsuji S.
    Rinsho Shinkeigaku; 1989 Dec; 29(12):1550-3. PubMed ID: 2698300
    [Abstract] [Full Text] [Related]

  • 2. Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
    Choy FY, Wei C, Levin D.
    Am J Med Genet; 1996 Oct 28; 65(3):184-9. PubMed ID: 9240741
    [Abstract] [Full Text] [Related]

  • 3.
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  • 4. 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 28; 26(5):409-16. PubMed ID: 11112377
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  • 5. 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 Oct 28; 15(2):181-8. PubMed ID: 10649495
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  • 7. DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
    Choy FY, Wei C, Applegarth DA, McGillivray BC.
    Am J Med Genet; 1994 Jun 01; 51(2):156-60. PubMed ID: 7916532
    [Abstract] [Full Text] [Related]

  • 8. Mutations causing Gaucher disease.
    Horowitz M, Zimran A.
    Hum Mutat; 1994 Jun 01; 3(1):1-11. PubMed ID: 8118460
    [Abstract] [Full Text] [Related]

  • 9. Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
    Reissner K, Tayebi N, Stubblefield BK, Koprivica V, Blitzer M, Holleran W, Cowan T, Almashanu S, Maddalena A, Karson EM, Sidransky E.
    Mol Genet Metab; 1998 Apr 01; 63(4):281-8. PubMed ID: 9635296
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  • 12. Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients.
    Chang HH, Asano N, Ishii S, Ichikawa Y, Fan JQ.
    FEBS J; 2006 Sep 01; 273(17):4082-92. PubMed ID: 16934036
    [Abstract] [Full Text] [Related]

  • 13. Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.
    Pomponio RJ, Cabrera-Salazar MA, Echeverri OY, Miller G, Barrera LA.
    Mol Genet Metab; 2005 Dec 01; 86(4):466-72. PubMed ID: 16185907
    [Abstract] [Full Text] [Related]

  • 14. The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
    Orvisky E, Park JK, Parker A, Walker JM, Martin BM, Stubblefield BK, Uyama E, Tayebi N, Sidransky E.
    Hum Mutat; 2002 Apr 01; 19(4):458-9. PubMed ID: 11933202
    [Abstract] [Full Text] [Related]

  • 15. Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
    Suwannarat P, Keeratichamroen S, Wattanasirichaigoon D, Ngiwsara L, Cairns JR, Svasti J, Visudtibhan A, Pangkanon S.
    Blood Cells Mol Dis; 2007 Apr 01; 39(3):348-52. PubMed ID: 17689991
    [Abstract] [Full Text] [Related]

  • 16. Mutation analysis of 28 Gaucher disease patients: the Australasian experience.
    Lewis BD, Nelson PV, Robertson EF, Morris CP.
    Am J Med Genet; 1994 Jan 15; 49(2):218-23. PubMed ID: 8116672
    [Abstract] [Full Text] [Related]

  • 17. Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region.
    Choy FY, Woo M, Der Kaloustian VM.
    Am J Med Genet; 1991 Dec 15; 41(4):469-74. PubMed ID: 1776640
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  • 18. Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.
    Filocamo M, Bonuccelli G, Mazzotti R, Giona F, Gatti R.
    Blood Cells Mol Dis; 2000 Aug 15; 26(4):307-11. PubMed ID: 11042032
    [Abstract] [Full Text] [Related]

  • 19. [Gaucher disease: clinical, genetic and therapeutic aspects].
    Germain DP.
    Pathol Biol (Paris); 2004 Jul 15; 52(6):343-50. PubMed ID: 15261378
    [Abstract] [Full Text] [Related]

  • 20. Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
    Filocamo M, Mazzotti R, Stroppiano M, Seri M, Giona F, Parenti G, Regis S, Corsolini F, Zoboli S, Gatti R.
    Hum Mutat; 2002 Sep 15; 20(3):234-5. PubMed ID: 12204005
    [Abstract] [Full Text] [Related]

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