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235 related items for PubMed ID: 9781065

  • 1. Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers.
    Peleg L, Frisch A, Goldman B, Karpaty M, Narinsky R, Bronstein S, Frydman M.
    Eur J Hum Genet; 1998; 6(2):185-6. PubMed ID: 9781065
    [Abstract] [Full Text] [Related]

  • 2. Tay-Sachs disease and HEXA mutations among Moroccan Jews.
    Kaufman M, Grinshpun-Cohen J, Karpati M, Peleg L, Goldman B, Akstein E, Adam A, Navon R.
    Hum Mutat; 1997; 10(4):295-300. PubMed ID: 9338583
    [Abstract] [Full Text] [Related]

  • 3. Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
    Vallance H, Morris TJ, Coulter-Mackie M, Lim-Steele J, Kaback M.
    Mol Genet Metab; 2006 Feb; 87(2):122-7. PubMed ID: 16352452
    [Abstract] [Full Text] [Related]

  • 4. Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
    Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA.
    N Engl J Med; 1990 Jul 05; 323(1):6-12. PubMed ID: 2355960
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  • 6. Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews.
    Fernandes MJ, Kaplan F, Clow CL, Hechtman P, Scriver CR.
    Genet Epidemiol; 1992 Jul 05; 9(3):169-75. PubMed ID: 1387862
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  • 8. Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel.
    Broide E, Zeigler M, Eckstein J, Bach G.
    Am J Med Genet; 1993 Aug 15; 47(2):213-5. PubMed ID: 8213907
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  • 9. Linkage to Gaucher mutations in the Ashkenazi population: effect of drift on decay of linkage disequilibrium and evidence for heterozygote selection.
    Boas FE.
    Blood Cells Mol Dis; 2000 Aug 15; 26(4):348-59. PubMed ID: 11042036
    [Abstract] [Full Text] [Related]

  • 10. Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.
    Frisch A, Colombo R, Michaelovsky E, Karpati M, Goldman B, Peleg L.
    Hum Genet; 2004 Mar 15; 114(4):366-76. PubMed ID: 14727180
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 49(4):855-9. PubMed ID: 1897529
    [Abstract] [Full Text] [Related]

  • 12. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
    Myerowitz R.
    Hum Mutat; 1997 Oct 15; 9(3):195-208. PubMed ID: 9090523
    [Abstract] [Full Text] [Related]

  • 13. Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene.
    Rockah R, Narinsky R, Frydman M, Cohen IJ, Zaizov R, Weizman A, Frisch A.
    Am J Med Genet; 1998 Jul 07; 78(3):233-6. PubMed ID: 9677056
    [Abstract] [Full Text] [Related]

  • 14. Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.
    DeMarchi JM, Caskey CT, Richards CS.
    Hum Mutat; 1996 Jul 07; 8(2):116-25. PubMed ID: 8844209
    [Abstract] [Full Text] [Related]

  • 15. An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.
    Shore S, Tomczak J, Grebner EE, Myerowitz R.
    Hum Mutat; 1992 Jul 07; 1(6):486-90. PubMed ID: 1301958
    [Abstract] [Full Text] [Related]

  • 16. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.
    Horowitz M, Pasmanik-Chor M, Borochowitz Z, Falik-Zaccai T, Heldmann K, Carmi R, Parvari R, Beit-Or H, Goldman B, Peleg L, Levy-Lahad E, Renbaum P, Legum S, Shomrat R, Yeger H, Benbenisti D, Navon R, Dror V, Shohat M, Magal N, Navot N, Eyal N.
    Hum Mutat; 1998 Jul 07; 12(4):240-4. PubMed ID: 9744474
    [Abstract] [Full Text] [Related]

  • 17. [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
    [Abstract] [Full Text] [Related]

  • 18. Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
    Park NJ, Morgan C, Sharma R, Li Y, Lobo RM, Redman JB, Salazar D, Sun W, Neidich JA, Strom CM.
    Pediatr Res; 2010 Feb 15; 67(2):217-20. PubMed ID: 19858779
    [Abstract] [Full Text] [Related]

  • 19. The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin.
    Petersen GM, Rotter JI, Cantor RM, Field LL, Greenwald S, Lim JS, Roy C, Schoenfeld V, Lowden JA, Kaback MM.
    Am J Hum Genet; 1983 Nov 15; 35(6):1258-69. PubMed ID: 6650504
    [Abstract] [Full Text] [Related]

  • 20. Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.
    Karpati M, Gazit E, Goldman B, Frisch A, Colombo R, Peleg L.
    Neurogenetics; 2004 Feb 15; 5(1):35-40. PubMed ID: 14648242
    [Abstract] [Full Text] [Related]

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