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280 related items for PubMed ID: 9272736

  • 1. 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]

  • 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. Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.
    Drucker L, Hemli JA, Navon R.
    Hum Mutat; 1997; 10(6):451-7. PubMed ID: 9401008
    [Abstract] [Full Text] [Related]

  • 4. Novel Tay-Sachs disease mutations from China.
    Akalin N, Shi HP, Vavougios G, Hechtman P, Lo W, Scriver CR, Mahuran D, Kaplan F.
    Hum Mutat; 1992; 1(1):40-6. PubMed ID: 1301190
    [Abstract] [Full Text] [Related]

  • 5. Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene.
    Navon R, Khosravi R, Melki J, Drucker L, Fontaine B, Turpin JC, N'Guyen B, Fardeau M, Rondot P, Baumann N.
    Ann Neurol; 1997 May; 41(5):631-8. PubMed ID: 9153525
    [Abstract] [Full Text] [Related]

  • 6. 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 May; 9(3):260-4. PubMed ID: 9090529
    [Abstract] [Full Text] [Related]

  • 7. An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.
    Richard MM, Erenberg G, Triggs-Raine BL.
    Biochem Mol Med; 1995 Jun; 55(1):74-6. PubMed ID: 7551830
    [Abstract] [Full Text] [Related]

  • 8. 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 Jun; 5(2):186-7. PubMed ID: 7749419
    [No Abstract] [Full Text] [Related]

  • 9. The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.
    Tanaka A, Sakuraba H, Isshiki G, Suzuki K.
    Biochem Biophys Res Commun; 1993 Apr 30; 192(2):539-46. PubMed ID: 8484765
    [Abstract] [Full Text] [Related]

  • 10. Presence of beta-hexosaminidase A alpha-chain mRNA in two different variants of GM2-gangliosidosis.
    Budde-Steffen C, Steffen M, Siegel DA, Suzuki K.
    Neuropediatrics; 1988 May 30; 19(2):59-61. PubMed ID: 2967444
    [Abstract] [Full Text] [Related]

  • 11. Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
    Akli S, Guidotti JE, Vigne E, Perricaudet M, Sandhoff K, Kahn A, Poenaru L.
    Gene Ther; 1996 Sep 30; 3(9):769-74. PubMed ID: 8875224
    [Abstract] [Full Text] [Related]

  • 12. 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 Sep 30; 10(4):295-300. PubMed ID: 9338583
    [Abstract] [Full Text] [Related]

  • 13. At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.
    Ozkara HA, Navon R.
    Mol Genet Metab; 1998 Nov 30; 65(3):250-3. PubMed ID: 9851891
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.
    Hechtman P, Boulay B, De Braekeleer M, Andermann E, Melançon S, Larochelle J, Prevost C, Kaplan F.
    Hum Genet; 1992 Dec 05; 90(4):402-6. PubMed ID: 1483696
    [Abstract] [Full Text] [Related]

  • 16. A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
    Trop I, Kaplan F, Brown C, Mahuran D, Hechtman P.
    Hum Mutat; 1992 Dec 05; 1(1):35-9. PubMed ID: 1301189
    [Abstract] [Full Text] [Related]

  • 17. Prenatal diagnosis of a Japanese family at risk for Tay-Sachs disease. Application of a fluorescent competitive allele-specific polymerase chain reaction (PCR) method.
    Tamasu S, Nishio H, Ayaki H, Lee MJ, Mizutori M, Takeshima Y, Nakamura H, Matsuo M, Maruo T, Sumino K.
    Kobe J Med Sci; 1999 Dec 05; 45(6):259-70. PubMed ID: 10985159
    [Abstract] [Full Text] [Related]

  • 18. 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 05; 87(2):122-7. PubMed ID: 16352452
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Heterozygosity for the "DN allele" (G533-greater than A) of the beta-hexosaminidase alpha subunit gene identified by direct DNA sequencing in a family with the B1 variant of GM2-gangliosidosis.
    Whitley CB, Anderson RA, McIvor RS.
    Neuropediatrics; 1992 Apr 05; 23(2):96-101. PubMed ID: 1318511
    [Abstract] [Full Text] [Related]

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