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Journal Abstract Search

235 related items for PubMed ID: 9781065

  • 21. Screening for genetic disorders among Jews: how should the Tay-Sachs screening program be continued?
    Zlotogora J, Leventhal A.
    Isr Med Assoc J; 2000 Sep; 2(9):665-7. PubMed ID: 11062764
    [Abstract] [Full Text] [Related]

  • 22. 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; 85(11):3955-9. PubMed ID: 3375249
    [Abstract] [Full Text] [Related]

  • 23. Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
    Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG.
    Hum Mutat; 2005 Sep; 26(3):282. PubMed ID: 16088929
    [Abstract] [Full Text] [Related]

  • 24. Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
    Yoo HW, Astrin KH, Desnick RJ.
    J Korean Med Sci; 1993 Feb; 8(1):84-91. PubMed ID: 8343225
    [Abstract] [Full Text] [Related]

  • 25. Heterozygote advantage in Tay-Sachs carriers?
    Spyropoulos B, Moens PB, Davidson J, Lowden JA.
    Am J Hum Genet; 1981 May; 33(3):375-80. PubMed ID: 7246543
    [Abstract] [Full Text] [Related]

  • 26. Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.
    Grebner EE, Tomczak J.
    Am J Hum Genet; 1991 Mar; 48(3):604-7. PubMed ID: 1825595
    [Abstract] [Full Text] [Related]

  • 27. Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease.
    Altarescu G, Brooks B, Margalioth E, Eldar Geva T, Levy-Lahad E, Renbaum P.
    Reprod Biomed Online; 2007 Jul; 15(1):83-8. PubMed ID: 17623543
    [Abstract] [Full Text] [Related]

  • 28. Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel.
    Peleg L, Pesso R, Goldman B, Dotan K, Omer M, Friedman E, Berkenstadt M, Reznik-Wolf H, Barkai G.
    Isr Med Assoc J; 2002 Feb; 4(2):95-7. PubMed ID: 11876000
    [Abstract] [Full Text] [Related]

  • 29. Ashkenazi Jewish genetic disorders.
    Charrow J.
    Fam Cancer; 2004 Feb; 3(3-4):201-6. PubMed ID: 15516842
    [Abstract] [Full Text] [Related]

  • 30. A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.
    Karpati M, Peleg L, Gazit E, Akstein E, Goldman B.
    Clin Genet; 2000 May; 57(5):398-400. PubMed ID: 10852376
    [Abstract] [Full Text] [Related]

  • 31. Tay-Sachs disease as a model for screening inborn errors.
    Blitzer MG, McDowell GA.
    Clin Lab Med; 1992 Sep; 12(3):463-80. PubMed ID: 1355703
    [Abstract] [Full Text] [Related]

  • 32.
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  • 33. Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
    Natowicz MR, Prence EM.
    Curr Opin Pediatr; 1996 Dec; 8(6):625-9. PubMed ID: 9018448
    [Abstract] [Full Text] [Related]

  • 34. Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
    Drucker L, Proia RL, Navon R.
    Am J Hum Genet; 1992 Aug; 51(2):371-7. PubMed ID: 1322637
    [Abstract] [Full Text] [Related]

  • 35. 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
    [Abstract] [Full Text] [Related]

  • 36. Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.
    Bach G, Tomczak J, Risch N, Ekstein J.
    Am J Med Genet; 2001 Feb 15; 99(1):70-5. PubMed ID: 11170098
    [Abstract] [Full Text] [Related]

  • 37. 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
    [Abstract] [Full Text] [Related]

  • 38. Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report.
    Strasberg P, Warren I, Skomorowski MA, Feigenbaum A.
    Hum Mutat; 1997 Mar 15; 10(1):82-3. PubMed ID: 9222766
    [No Abstract] [Full Text] [Related]

  • 39. Tay-Sachs disease: a pilot screening program for the detection of the heterozygote in the Charleston Jewish community.
    Rogers JF, Hogan EL, Jorgenson RJ.
    South Med J; 1976 Nov 15; 69(11):1453-5. PubMed ID: 1019641
    [Abstract] [Full Text] [Related]

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