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Journal Abstract Search

184 related items for PubMed ID: 2959149

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

  • 22. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
    Triggs-Raine BL, Mules EH, Kaback MM, Lim-Steele JS, Dowling CE, Akerman BR, Natowicz MR, Grebner EE, Navon R, Welch JP.
    Am J Hum Genet; 1992 Oct; 51(4):793-801. PubMed ID: 1384323
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  • 23. Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.
    Ibrahim DMA, Ali OSM, Nasr H, Fateen E, AbdelAleem A.
    Orphanet J Rare Dis; 2023 Mar 13; 18(1):52. PubMed ID: 36907859
    [Abstract] [Full Text] [Related]

  • 24. Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
    Harmon DL, Gardner-Medwin D, Stirling JL.
    J Med Genet; 1993 Feb 13; 30(2):123-8. PubMed ID: 8445615
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  • 25. Tay-Sachs disease: B1 variant.
    Gordon BA, Gordon KE, Hinton GG, Cadera W, Feleki V, Bayleran J, Hechtman P.
    Pediatr Neurol; 1988 Feb 13; 4(1):54-7. PubMed ID: 2976595
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  • 27. The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.
    McDowell GA, Mules EH, Fabacher P, Shapira E, Blitzer MG.
    Am J Hum Genet; 1992 Nov 13; 51(5):1071-7. PubMed ID: 1307230
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  • 31. Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.
    Ben-Yoseph Y, Reid JE, Shapiro B, Nadler HL.
    Am J Hum Genet; 1985 Jul 13; 37(4):733-40. PubMed ID: 9556661
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  • 32. Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates.
    Landels EC, Ellis IH, Bobrow M, Fensom AH.
    J Med Genet; 1991 Feb 13; 28(2):101-9. PubMed ID: 1825851
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  • 33. Introduction of the alpha subunit mutation associated with the B1 variant of Tay-Sachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity.
    Brown CA, Neote K, Leung A, Gravel RA, Mahuran DJ.
    J Biol Chem; 1989 Dec 25; 264(36):21705-10. PubMed ID: 2532211
    [Abstract] [Full Text] [Related]

  • 34. Two abnormalities of hexosaminidase A in clinically normal individuals.
    Grebner EE, Mansfield DA, Raghavan SS, Kolodny EH, d'Azzo A, Neufeld EF, Jackson LG.
    Am J Hum Genet; 1986 Apr 25; 38(4):505-14. PubMed ID: 2939713
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  • 35. Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source.
    Buchalter MS, Wannmacher CM, Wajner M.
    J Inherit Metab Dis; 1984 Apr 25; 7(1):35-7. PubMed ID: 6234430
    [Abstract] [Full Text] [Related]

  • 36. Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
    Akli S, Chomel JC, Lacorte JM, Bachner L, Kahn A, Poenaru L.
    Hum Mol Genet; 1993 Jan 25; 2(1):61-7. PubMed ID: 8490625
    [Abstract] [Full Text] [Related]

  • 37. A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
    Cao Z, Natowicz MR, Kaback MM, Lim-Steele JS, Prence EM, Brown D, Chabot T, Triggs-Raine BL.
    Am J Hum Genet; 1993 Dec 25; 53(6):1198-205. PubMed ID: 7902672
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  • 38. Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.
    Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN.
    J Mol Biol; 2003 Apr 11; 327(5):1093-109. PubMed ID: 12662933
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  • 39. Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.
    Strasberg PM, Clarke JT.
    Clin Chem; 1992 Nov 11; 38(11):2249-55. PubMed ID: 1424119
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  • 40. Tay-Sachs disease screening and diagnosis: evolving technologies.
    Hechtman P, Kaplan F.
    DNA Cell Biol; 1993 Oct 11; 12(8):651-65. PubMed ID: 8397824
    [Abstract] [Full Text] [Related]

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