207 related articles for article (PubMed ID: 8933335)
1. Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.
van Bael M; Natowicz MR; Tomczak J; Grebner EE; Prence EM
J Med Genet; 1996 Oct; 33(10):829-32. PubMed ID: 8933335
[TBL] [Abstract][Full Text] [Related]
2. Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy.
Branda KJ; Tomczak J; Natowicz MR
Genet Test; 2004; 8(2):174-80. PubMed ID: 15345116
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.
Landels EC; Green PM; Ellis IH; Fensom AH; Kaback MM; Lim-Steele J; Zeiger K; Levy N; Bobrow M
J Med Genet; 1993 Jun; 30(6):479-81. PubMed ID: 8326491
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
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. Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
Natowicz MR; Prence EM
Curr Opin Pediatr; 1996 Dec; 8(6):625-9. PubMed ID: 9018448
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian background.
Prence EM; Jerome CA; Triggs-Raine BL; Natowicz MR
J Med Screen; 1997; 4(3):133-6. PubMed ID: 9368869
[TBL] [Abstract][Full Text] [Related]
12. Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients.
Bayleran J; Hechtman P; Kolodny E; Kaback M
Am J Hum Genet; 1987 Oct; 41(4):532-48. PubMed ID: 2959149
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.
Frisch A; Colombo R; Michaelovsky E; Karpati M; Goldman B; Peleg L
Hum Genet; 2004 Mar; 114(4):366-76. PubMed ID: 14727180
[TBL] [Abstract][Full Text] [Related]
16. Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.
Martin DC; Mark BL; Triggs-Raine BL; Natowicz MR
Clin Chem; 2007 Mar; 53(3):392-8. PubMed ID: 17259242
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]