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Journal Abstract Search

163 related items for PubMed ID: 9222766

  • 1. 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; 10(1):82-3. PubMed ID: 9222766
    [No Abstract] [Full Text] [Related]

  • 2. 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; 1(4):303-9. PubMed ID: 1301938
    [Abstract] [Full Text] [Related]

  • 3. Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease.
    Ozkara HA, Akerman BR, Ciliv G, Topçu M, Renda Y, Gravel RA.
    Hum Mutat; 1995; 5(2):186-7. PubMed ID: 7749419
    [No Abstract] [Full Text] [Related]

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

  • 5. 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]

  • 6. 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; 5(3):129-36. PubMed ID: 9272736
    [Abstract] [Full Text] [Related]

  • 7. A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test.
    Brown DH, Triggs-Raine BL, McGinniss MJ, Kaback MM.
    Hum Mutat; 1995; 5(2):173-4. PubMed ID: 7749415
    [No Abstract] [Full Text] [Related]

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  • 9. 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]

  • 10. Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.
    Grebner EE, Tomczak J.
    Am J Hum Genet; 1991 Mar 15; 48(3):604-7. PubMed ID: 1825595
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  • 12. Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.
    Drucker L, Golan A, Boles DJ, el Bedour K, Proia RL, Navon R.
    Hum Mutat; 1997 Mar 15; 9(3):260-4. PubMed ID: 9090529
    [Abstract] [Full Text] [Related]

  • 13. Identification of an altered splice site in Ashkenazi Tay-Sachs disease.
    Arpaia E, Dumbrille-Ross A, Maler T, Neote K, Tropak M, Troxel C, Stirling JL, Pitts JS, Bapat B, Lamhonwah AM.
    Nature; 1988 May 05; 333(6168):85-6. PubMed ID: 3362213
    [Abstract] [Full Text] [Related]

  • 14. Pedigree discriminant analysis of two French Canadian Tay-Sachs families.
    Keats BJ, Elston RC, Andermann E.
    Genet Epidemiol; 1987 May 05; 4(2):77-85. PubMed ID: 2953646
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.
    Landels EC, Green PM, Ellis IH, Fensom AH, Bobrow M.
    J Med Genet; 1992 Aug 05; 29(8):563-7. PubMed ID: 1387685
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  • 19. Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
    Tomczak J, Grebner EE.
    Hum Mutat; 1994 Aug 05; 4(1):71-2. PubMed ID: 7951261
    [No Abstract] [Full Text] [Related]

  • 20. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
    Myerowitz R.
    Hum Mutat; 1997 Aug 05; 9(3):195-208. PubMed ID: 9090523
    [Abstract] [Full Text] [Related]

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