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Similar articles for PubMed (Select 8397824)

1.

Tay-Sachs disease screening and diagnosis: evolving technologies.

Hechtman P, Kaplan F.

DNA Cell Biol. 1993 Oct;12(8):651-65. Review.

PMID:
8397824
2.
3.

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
4.

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.

PMID:
1301937
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, et al.

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

PMID:
1301938
6.

Prenatal diagnosis of a Japanese family at risk for Tay-Sachs disease. Application of a fluorescent competitive allele-specific polymerase chain reaction (PCR) method.

Tamasu S, Nishio H, Ayaki H, Lee MJ, Mizutori M, Takeshima Y, Nakamura H, Matsuo M, Maruo T, Sumino K.

Kobe J Med Sci. 1999 Dec;45(6):259-70.

PMID:
10985159
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.

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
9.

The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.

Mahuran DJ, Triggs-Raine BL, Feigenbaum AJ, Gravel RA.

Clin Biochem. 1990 Oct;23(5):409-15. Review.

PMID:
2147596
10.

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.

11.

Tay-Sachs disease as a model for screening inborn errors.

Blitzer MG, McDowell GA.

Clin Lab Med. 1992 Sep;12(3):463-80. Review.

PMID:
1355703
12.

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.

13.

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. Epub 2004 Jan 15.

PMID:
14727180
14.
15.
16.

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
17.

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.

18.

Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.

Rozenberg R, Kok F, Burin MG, Sá Miranda MC, Vasques C, Henriques-Souza AM, Giugliani R, Vainzof M, Pereira LV.

J Child Neurol. 2006 Jun;21(6):540-4.

PMID:
16948947
19.
20.

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
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