266 related articles for article (PubMed ID: 1828838)
1. 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]
2. 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]
3. 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]
4. 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]
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. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. Mutations of the hexosaminidase A gene in Ashkenazi and non-Ashkenazi Jews.
Peleg L; Karpati M; Gazit E; Raas-Rothschild A; Goldman B
Biochem Med Metab Biol; 1994 Jun; 52(1):22-6. PubMed ID: 7917464
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]