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435 related items for PubMed ID: 16352452

  • 1. 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]

  • 2. Pedigree discriminant analysis of two French Canadian Tay-Sachs families.
    Keats BJ, Elston RC, Andermann E.
    Genet Epidemiol; 1987 Feb; 4(2):77-85. PubMed ID: 2953646
    [Abstract] [Full Text] [Related]

  • 3. Molecular basis of heat labile hexosaminidase B among Jews and Arabs.
    Narkis G, Adam A, Jaber L, Pennybacker M, Proia RL, Navon R.
    Hum Mutat; 1997 Feb; 10(6):424-9. PubMed ID: 9401004
    [Abstract] [Full Text] [Related]

  • 4. 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 Feb; 10(4):295-300. PubMed ID: 9338583
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
    Akerman BR, Zielenski J, Triggs-Raine BL, Prence EM, Natowicz MR, Lim-Steele JS, Kaback MM, Mules EH, Thomas GH, Clarke JT.
    Hum Mutat; 1992 Aug 15; 1(4):303-9. PubMed ID: 1301938
    [Abstract] [Full Text] [Related]

  • 7. 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 Aug 15; 9(3):169-75. PubMed ID: 1387862
    [Abstract] [Full Text] [Related]

  • 8. Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis.
    Drory VE, Birnbaum M, Peleg L, Goldman B, Korczyn AD.
    Muscle Nerve; 2003 Jul 15; 28(1):109-12. PubMed ID: 12811781
    [Abstract] [Full Text] [Related]

  • 9. GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
    Gort L, de Olano N, Macías-Vidal J, Coll MA, Spanish GM2 Working Group.
    Gene; 2012 Sep 10; 506(1):25-30. PubMed ID: 22789865
    [Abstract] [Full Text] [Related]

  • 10. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
    Myerowitz R.
    Hum Mutat; 1997 Sep 10; 9(3):195-208. PubMed ID: 9090523
    [Abstract] [Full Text] [Related]

  • 11. 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 10; 67(2):217-20. PubMed ID: 19858779
    [Abstract] [Full Text] [Related]

  • 12. Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
    Yamanaka S, Johnson ON, Norflus F, Boles DJ, Proia RL.
    Genomics; 1994 Jun 10; 21(3):588-96. PubMed ID: 7959736
    [Abstract] [Full Text] [Related]

  • 13. Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
    Mules EH, Hayflick S, Dowling CE, Kelly TE, Akerman BR, Gravel RA, Thomas GH.
    Hum Mutat; 1992 Jun 10; 1(4):298-302. PubMed ID: 1301937
    [Abstract] [Full Text] [Related]

  • 14. Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
    Norflus F, Yamanaka S, Proia RL.
    DNA Cell Biol; 1996 Feb 10; 15(2):89-97. PubMed ID: 8634145
    [Abstract] [Full Text] [Related]

  • 15. Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
    Triggs-Raine B, Richard M, Wasel N, Prence EM, Natowicz MR.
    Am J Hum Genet; 1995 Apr 10; 56(4):870-9. PubMed ID: 7717398
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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 05; 26(3):282. PubMed ID: 16088929
    [Abstract] [Full Text] [Related]

  • 18. 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 Sep 05; 6(2):185-6. PubMed ID: 9781065
    [Abstract] [Full Text] [Related]

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  • 20. A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.
    Fernandes MJ, Hechtman P, Boulay B, Kaplan F.
    Eur J Hum Genet; 1997 Sep 05; 5(3):129-36. PubMed ID: 9272736
    [Abstract] [Full Text] [Related]

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