BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

437 related articles for article (PubMed ID: 16352452)

  • 1. 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]  

  • 2. Pedigree discriminant analysis of two French Canadian Tay-Sachs families.
    Keats BJ; Elston RC; Andermann E
    Genet Epidemiol; 1987; 4(2):77-85. PubMed ID: 2953646
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular basis of heat labile hexosaminidase B among Jews and Arabs.
    Narkis G; Adam A; Jaber L; Pennybacker M; Proia RL; Navon R
    Hum Mutat; 1997; 10(6):424-9. PubMed ID: 9401004
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel.
    Broide E; Zeigler M; Eckstein J; Bach G
    Am J Med Genet; 1993 Aug; 47(2):213-5. PubMed ID: 8213907
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis.
    Drory VE; Birnbaum M; Peleg L; Goldman B; Korczyn AD
    Muscle Nerve; 2003 Jul; 28(1):109-12. PubMed ID: 12811781
    [TBL] [Abstract][Full Text] [Related]  

  • 9. GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
    Gort L; de Olano N; MacĂ­as-Vidal J; Coll MA;
    Gene; 2012 Sep; 506(1):25-30. PubMed ID: 22789865
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
    Yamanaka S; Johnson ON; Norflus F; Boles DJ; Proia RL
    Genomics; 1994 Jun; 21(3):588-96. PubMed ID: 7959736
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
    Norflus F; Yamanaka S; Proia RL
    DNA Cell Biol; 1996 Feb; 15(2):89-97. PubMed ID: 8634145
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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; 26(3):282. PubMed ID: 16088929
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers.
    Peleg L; Frisch A; Goldman B; Karpaty M; Narinsky R; Bronstein S; Frydman M
    Eur J Hum Genet; 1998; 6(2):185-6. PubMed ID: 9781065
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Maternal serum hexosaminidase A in pregnancy: effects of gestational age and fetal genotype.
    Ben-Yoseph Y; Pack BA; Thomas PM; Nadler HL; Kaback MM
    Am J Med Genet; 1988 Apr; 29(4):891-9. PubMed ID: 2969680
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 22.