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Items: 1 to 20 of 137

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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.

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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
6.

Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel.

Broide E, Zeigler M, Eckstein J, Bach G.

Am J Med Genet. 1993 Aug 15;47(2):213-5.

PMID:
8213907
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Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.

Lew RM, Proos AL, Burnett L, Delatycki M, Bankier A, Fietz MJ.

Med J Aust. 2012 Dec 10;197(11):652-4.

PMID:
23230938
11.

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.

12.

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.

13.

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
14.

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
15.

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
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.

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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.

PMID:
9338583
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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.

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