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 *

316 related articles for article (PubMed ID: 1301938)

  • 1. 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]  

  • 2. Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
    Mules EH; Hayflick S; Dowling CE; Kelly TE; Akerman BR; Gravel RA; Thomas GH
    Hum Mutat; 1992; 1(4):298-302. PubMed ID: 1301937
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 333(6168):85-6. PubMed ID: 3362213
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 8. 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]  

  • 9. 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]  

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

  • 11. 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; 45(6):259-70. PubMed ID: 10985159
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.
    Tanaka A; Fujimaru M; Choeh K; Isshiki G
    J Hum Genet; 1999; 44(2):91-5. PubMed ID: 10083731
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
    Park NJ; Morgan C; Sharma R; Li Y; Lobo RM; Redman JB; Salazar D; Sun W; Neidich JA; Strom CM
    Pediatr Res; 2010 Feb; 67(2):217-20. PubMed ID: 19858779
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 9(3):260-4. PubMed ID: 9090529
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 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; 1(1):35-9. PubMed ID: 1301189
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews.
    Fernandes MJ; Kaplan F; Clow CL; Hechtman P; Scriver CR
    Genet Epidemiol; 1992; 9(3):169-75. PubMed ID: 1387862
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
    Yoo HW; Astrin KH; Desnick RJ
    J Korean Med Sci; 1993 Feb; 8(1):84-91. PubMed ID: 8343225
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 16.