157 related articles for article (PubMed ID: 8326491)
21. 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]
22. 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]
23. 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]
24. 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]
25. 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]
26. A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.
Mules EH; Dowling CE; Petersen MB; Kazazian HH; Thomas GH
Am J Hum Genet; 1991 Jun; 48(6):1181-5. PubMed ID: 1827945
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. 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]
30. Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients.
Ribeiro MG; Pinto R; Miranda MC; Suzuki K
Biochim Biophys Acta; 1995 Jan; 1270(1):44-51. PubMed ID: 7827134
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. 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]
34. 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]
35. 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]
36. 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]
37. 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]
38. 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]
39. Primer system for single cell detection of double mutation for Tay-Sachs disease.
Liu MC; Drury KC; Kipersztok S; Zheng W; Williams RS
J Assist Reprod Genet; 2000 Feb; 17(2):121-6. PubMed ID: 10806593
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]