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Journal Abstract Search

275 related items for PubMed ID: 1897529

  • 1. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.
    Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E.
    Am J Hum Genet; 1991 Oct; 49(4):855-9. PubMed ID: 1897529
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  • 2. Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.
    Kronn D, Jansen V, Ostrer H.
    Arch Intern Med; 1998 Apr 13; 158(7):777-81. PubMed ID: 9554684
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  • 6. Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.
    DeMarchi JM, Caskey CT, Richards CS.
    Hum Mutat; 1996 Apr 13; 8(2):116-25. PubMed ID: 8844209
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  • 7. Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.
    Aviner S, Garty BZ, Rachmel A, Baris HN, Sidransky E, Shuffer A, Attias J, Yaniv Y, Cohen IJ.
    Blood Cells Mol Dis; 2009 Apr 13; 43(3):294-7. PubMed ID: 19734074
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  • 8. Ashkenazi Jewish genetic disorders.
    Charrow J.
    Fam Cancer; 2004 Apr 13; 3(3-4):201-6. PubMed ID: 15516842
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  • 10. An update of Gaucher mutations distribution in the Ashkenazi Jewish population: prevalence and country of origin of the mutation R496H.
    Bronstein S, Karpati M, Peleg L.
    Isr Med Assoc J; 2014 Nov 13; 16(11):683-5. PubMed ID: 25558695
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  • 11. Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.
    Colombo R.
    Am J Hum Genet; 2000 Feb 13; 66(2):692-7. PubMed ID: 10677327
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  • 12. Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.
    Myerowitz R.
    Proc Natl Acad Sci U S A; 1988 Jun 13; 85(11):3955-9. PubMed ID: 3375249
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  • 13. [Frequency of the Gaucher mutation among recent Russian immigrants].
    Hodish I, Elstein D, Abrahamov A, Lonshakova N, Zimran A.
    Harefuah; 1995 Jun 15; 128(12):757-8, 824. PubMed ID: 7557682
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  • 14. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation.
    Roa BB, Savino CV, Richards CS.
    Genet Test; 1999 Jun 15; 3(2):219-21. PubMed ID: 10464671
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  • 15. Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
    Landels EC, Ellis IH, Fensom AH, Green PM, Bobrow M.
    J Med Genet; 1991 Mar 15; 28(3):177-80. PubMed ID: 1828838
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  • 16. The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.
    Myerowitz R, Costigan FC.
    J Biol Chem; 1988 Dec 15; 263(35):18587-9. PubMed ID: 2848800
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  • 17. Gaucher disease: gene frequencies and genotype/phenotype correlations.
    Grabowski GA.
    Genet Test; 1997 Dec 15; 1(1):5-12. PubMed ID: 10464619
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  • 18. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.
    Lacerda L, Amaral O, Pinto R, Oliveira P, Aerts J, Sá Miranda MC.
    Clin Genet; 1994 Jun 15; 45(6):298-300. PubMed ID: 7923859
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  • 19. Carrier screening for Gaucher disease in couples of mixed ethnicity.
    Wallerstein R, Starkman A, Jansen V.
    Genet Test; 2001 Jun 15; 5(1):61-4. PubMed ID: 11336404
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  • 20. The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.
    Brautbar A, Elstein D, Abrahamov A, Zeigler M, Chicco G, Beutler E, Scott CR, Zimran A.
    Blood Cells Mol Dis; 2003 Jun 15; 31(2):187-9; discussion 190-1. PubMed ID: 12972024
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