682 related articles for article (PubMed ID: 9090523)
1. 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]
2. 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]
3. [Tay-Sachs disease].
Tanaka A
Nihon Rinsho; 1993 Sep; 51(9):2281-5. PubMed ID: 8411703
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Rapid identification of HEXA mutations in Tay-Sachs patients.
Giraud C; Dussau J; Azouguene E; Feillet F; Puech JP; Caillaud C
Biochem Biophys Res Commun; 2010 Feb; 392(4):599-602. PubMed ID: 20100466
[TBL] [Abstract][Full Text] [Related]
7. 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]
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. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.
Tanaka A; Sakuraba H; Isshiki G; Suzuki K
Biochem Biophys Res Commun; 1993 Apr; 192(2):539-46. PubMed ID: 8484765
[TBL] [Abstract][Full Text] [Related]
15. Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
Tomczak J; Grebner EE
Hum Mutat; 1994; 4(1):71-2. PubMed ID: 7951261
[No Abstract] [Full Text] [Related]
16. Identification of an active acidic residue in the catalytic site of beta-hexosaminidase.
Tse R; Vavougios G; Hou Y; Mahuran DJ
Biochemistry; 1996 Jun; 35(23):7599-607. PubMed ID: 8652542
[TBL] [Abstract][Full Text] [Related]
17. At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.
Ozkara HA; Navon R
Mol Genet Metab; 1998 Nov; 65(3):250-3. PubMed ID: 9851891
[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. 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]
20. 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]
[Next] [New Search]
