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Items: 1 to 20 of 76

1.

Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.

Nakagawa S, Zhan J, Sun W, Ferreira JC, Keiles S, Hambuch T, Kammesheidt A, Mark BL, Schneider A, Gross S, Schreiber-Agus N.

JIMD Rep. 2012;6:1-6. doi: 10.1007/8904_2011_120. Epub 2012 Jan 31.

2.

Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing.

Schneider A, Nakagawa S, Keep R, Dorsainville D, Charrow J, Aleck K, Hoffman J, Minkoff S, Finegold D, Sun W, Spencer A, Lebow J, Zhan J, Apfelroth S, Schreiber-Agus N, Gross S.

Am J Med Genet A. 2009 Nov;149A(11):2444-7. doi: 10.1002/ajmg.a.33085.

PMID:
19876898
3.

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. doi: 10.1203/PDR.0b013e3181c6e318.

PMID:
19858779
4.

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.

PMID:
8844209
5.

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.

6.

Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.

Bach G, Tomczak J, Risch N, Ekstein J.

Am J Med Genet. 2001 Feb 15;99(1):70-5.

PMID:
11170098
7.

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. Erratum in: Clin Chem 1993 Feb;39(2):371.

8.

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. Epub 2005 Dec 13.

PMID:
16352452
10.

A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.

Karpati M, Peleg L, Gazit E, Akstein E, Goldman B.

Clin Genet. 2000 May;57(5):398-400.

PMID:
10852376
11.

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, et al.

Hum Mutat. 1992;1(4):303-9.

PMID:
1301938
12.

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.

13.
14.

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.

15.

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, et al.

Am J Hum Genet. 1992 Oct;51(4):793-801.

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. Epub 2007 Jan 26.

17.
18.

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 5;323(1):6-12.

19.

Heterozygote screening for Tay-Sachs disease: past successes and future challenges.

Natowicz MR, Prence EM.

Curr Opin Pediatr. 1996 Dec;8(6):625-9. Review.

PMID:
9018448
20.

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