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 *

245 related articles for article (PubMed ID: 1322637)

  • 1. 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]  

  • 2. 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]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.
    Karpati M; Gazit E; Goldman B; Frisch A; Colombo R; Peleg L
    Neurogenetics; 2004 Feb; 5(1):35-40. PubMed ID: 14648242
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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; 18(1):52. PubMed ID: 36907859
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 2(1):61-7. PubMed ID: 8490625
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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; 56(4):870-9. PubMed ID: 7717398
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
    Akerman BR; Natowicz MR; Kaback MM; Loyer M; Campeau E; Gravel RA
    Am J Hum Genet; 1997 May; 60(5):1099-106. PubMed ID: 9150157
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 263(35):18587-9. PubMed ID: 2848800
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A Pst+ polymorphism in the HEXA gene with an unusual geographic distribution.
    Kaplan F; Kapoor S; Lee D; Fernandes M; Vienozinskis M; Mascisch A; Scriver CR; Lim-Steele J; Kaback M; Zeiger K; Zoossman-Diskin A; Bonne-Tamir B; Landels E; Bobrow M; Hechtman P
    Eur J Hum Genet; 1993; 1(4):301-5. PubMed ID: 8081943
    [TBL] [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; 29(8):563-7. PubMed ID: 1387685
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 53(6):1198-205. PubMed ID: 7902672
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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; 90(4):402-6. PubMed ID: 1483696
    [TBL] [Abstract][Full Text] [Related]  

  • 20. More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.
    Hechtman P; Kaplan F; Bayleran J; Boulay B; Andermann E; de Braekeleer M; Melançon S; Lambert M; Potier M; Gagné R
    Am J Hum Genet; 1990 Nov; 47(5):815-22. PubMed ID: 2220821
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.