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Journal Abstract Search

527 related items for PubMed ID: 2880291

  • 1. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.
    Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, Ginns EI.
    N Engl J Med; 1987 Mar 05; 316(10):570-5. PubMed ID: 2880291
    [Abstract] [Full Text] [Related]

  • 2. [Glucocerebrosidase deficiency--Gaucher's disease].
    Tsuji S.
    Tanpakushitsu Kakusan Koso; 1988 Apr 05; 33(5):728-33. PubMed ID: 2908399
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  • 5. 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
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  • 6. Type I Gaucher's disease with homozygous R463C mutation without neurological involvement.
    Bolaman Z, Kadikoylu G, Levi E, Barutca S, Temucin K.
    Haematologia (Budap); 2002 Oct 28; 32(4):487-93. PubMed ID: 12803123
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  • 8. Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
    Church HJ, Cooper A, Stewart F, Thornton CM, Wraith JE.
    Eur J Hum Genet; 2004 Nov 28; 12(11):975-8. PubMed ID: 15292921
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  • 9. Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase.
    Dahl N, Erikson A, Hammarström-Heeroma K, Pettersson U.
    Genomics; 1988 Nov 28; 3(4):296-8. PubMed ID: 2468600
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  • 10. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
    Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P.
    Blood Cells Mol Dis; 2007 Nov 28; 38(3):287-93. PubMed ID: 17196853
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  • 11. Co-morbidity in Gaucher's disease results of a nationwide enquiry in Spain.
    Pérez-Calvo J, Bernal M, Giraldo P, Torralba MA, Civeira F, Giralt M, Pocovi M.
    Eur J Med Res; 2000 Jun 20; 5(6):231-5. PubMed ID: 10882637
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  • 13. 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 Jun 20; 15(2):181-8. PubMed ID: 10649495
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  • 14. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.
    Tybulewicz VL, Tremblay ML, LaMarca ME, Willemsen R, Stubblefield BK, Winfield S, Zablocka B, Sidransky E, Martin BM, Huang SP.
    Nature; 1992 Jun 04; 357(6377):407-10. PubMed ID: 1594045
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  • 15. Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
    Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E.
    Lancet; 1989 Aug 12; 2(8659):349-52. PubMed ID: 2569551
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  • 16. 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 12; 63(4):281-8. PubMed ID: 9635296
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  • 17. A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.
    Sinclair G, Choy FY, Humphries L.
    Blood Cells Mol Dis; 1998 Dec 12; 24(4):420-7. PubMed ID: 9851895
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  • 18. [Molecular genetic approaches to neurologic diseases].
    Tsuji S.
    Rinsho Shinkeigaku; 1989 Dec 12; 29(12):1550-3. PubMed ID: 2698300
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  • 19. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
    Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R.
    N Engl J Med; 2004 Nov 04; 351(19):1972-7. PubMed ID: 15525722
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