These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

114 related articles for article (PubMed ID: 2349947)

  • 1. Polymerase chain reaction-generated heteroduplexes from Ashkenazi Tay-Sachs carriers with an insertion mutation can be detected on agarose gels.
    Shore S; Myerowitz R
    Am J Hum Genet; 1990 Jul; 47(1):169. PubMed ID: 2349947
    [No Abstract]   [Full Text] [Related]  

  • 2. A gel electrophoretic assay for detecting the insertion defect in Ashkenazi Jewish carriers of Tay-Sachs disease.
    Shore S; Myerowitz R
    Anal Biochem; 1990 Apr; 186(1):179-81. PubMed ID: 2356966
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Diagnostic heteroduplexes: simple detection of carriers of a 4-bp insertion mutation in Tay-Sachs disease.
    Triggs-Raine BL; Gravel RA
    Am J Hum Genet; 1990 Jan; 46(1):183-4. PubMed ID: 2294750
    [No Abstract]   [Full Text] [Related]  

  • 4. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program.
    Rozenberg R; Pereira Lda V
    Sao Paulo Med J; 2001 Jul; 119(4):146-9. PubMed ID: 11500789
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.
    Strasberg PM; Clarke JT
    Clin Chem; 1992 Nov; 38(11):2249-55. PubMed ID: 1424119
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 323(1):6-12. PubMed ID: 2355960
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.
    Myerowitz R
    Proc Natl Acad Sci U S A; 1988 Jun; 85(11):3955-9. PubMed ID: 3375249
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.
    Karpati M; Peleg L; Gazit E; Akstein E; Goldman B
    Clin Genet; 2000 May; 57(5):398-400. PubMed ID: 10852376
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
    Landels EC; Ellis IH; Fensom AH; Green PM; Bobrow M
    J Med Genet; 1991 Mar; 28(3):177-80. PubMed ID: 1828838
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
    Drucker L; Proia RL; Navon R
    Am J Hum Genet; 1992 Aug; 51(2):371-7. PubMed ID: 1322637
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Multiplexed fluorescence analysis for mutations causing Tay-Sachs disease.
    Stockley TL; Ray PN
    Methods Mol Biol; 2003; 217():131-41. PubMed ID: 12491928
    [No Abstract]   [Full Text] [Related]  

  • 14. Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.
    Grebner EE; Tomczak J
    Am J Hum Genet; 1991 Mar; 48(3):604-7. PubMed ID: 1825595
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.
    Kronn D; Jansen V; Ostrer H
    Arch Intern Med; 1998 Apr; 158(7):777-81. PubMed ID: 9554684
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
    Natowicz MR; Prence EM
    Curr Opin Pediatr; 1996 Dec; 8(6):625-9. PubMed ID: 9018448
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
    Navon R; Proia RL
    Am J Hum Genet; 1991 Feb; 48(2):412-9. PubMed ID: 1825014
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
    Paw BH; Tieu PT; Kaback MM; Lim J; Neufeld EF
    Am J Hum Genet; 1990 Oct; 47(4):698-705. PubMed ID: 2220809
    [TBL] [Abstract][Full Text] [Related]  

  • 19. PCR analysis of hair root specimens to detect Tay-Sachs disease carriers in Ashkenazi Jews.
    Brillante R; Yang V; Proos A; Burnett L
    Clin Chem; 1995 Feb; 41(2):321-2. PubMed ID: 7874790
    [No Abstract]   [Full Text] [Related]  

  • 20. The search for the genetic lesion in Ashkenazi Jews with Classic Tay-Sachs disease.
    Myerowitz R
    Adv Genet; 2001; 44():137-43. PubMed ID: 11596979
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.