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Items: 1 to 20 of 184

1.

Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

Colaianni A, Chandrasekharan S, Cook-Deegan R.

Genet Med. 2010 Apr;12(4 Suppl):S5-S14. doi: 10.1097/GIM.0b013e3181d5a669.

2.

Gene patents and licensing: case studies prepared for the Secretary's Advisory Committee on Genetics, Health, and Society.

Cook-Deegan R, Heaney C.

Genet Med. 2010 Apr;12(4 Suppl):S1-2. doi: 10.1097/GIM.0b013e3181d694b0.

4.

Carrier testing for autosomal-recessive disorders.

Vallance H, Ford J.

Crit Rev Clin Lab Sci. 2003 Aug;40(4):473-97. Review.

PMID:
14582604
5.

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
6.

Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.

Mehta N, Lazarin GA, Spiegel E, Berentsen K, Brennan K, Giordano J, Haque IS, Wapner R.

Genet Test Mol Biomarkers. 2016 Sep;20(9):504-9. doi: 10.1089/gtmb.2015.0302. Epub 2016 Jun 30.

7.

Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K.

J Mol Diagn. 2009 Nov;11(6):530-6. doi: 10.2353/jmoldx.2009.090050. Epub 2009 Oct 8.

8.
9.

Canavan disease: diagnosis and molecular analysis.

Matalon R.

Genet Test. 1997;1(1):21-5. Review.

PMID:
10464621
10.

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
11.

Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population.

Feldman GL, Schrijver I, Lyon E, Palomaki GE; CAP/ACMG Biochemical and Molecular Genetics Resource Committee.

Genet Med. 2014 Sep;16(9):695-702. doi: 10.1038/gim.2014.14. Epub 2014 Feb 27.

PMID:
24577267
13.

Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: comparing breast and ovarian cancers with colon cancers.

Cook-Deegan R, DeRienzo C, Carbone J, Chandrasekharan S, Heaney C, Conover C.

Genet Med. 2010 Apr;12(4 Suppl):S15-38. doi: 10.1097/GIM.0b013e3181d5a67b.

14.

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
15.

Carrier screening panels for Ashkenazi Jews: is more better?

Leib JR, Gollust SE, Hull SC, Wilfond BS.

Genet Med. 2005 Mar;7(3):185-90.

PMID:
15775754
16.

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.

17.

Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.

Guetta E, Peleg L.

Methods Mol Biol. 2008;444:147-59. doi: 10.1007/978-1-59745-066-9_11.

PMID:
18425478
18.
19.

Carrier screening for Canavan disease in Australia.

Howell VM, Proos AL, LaRue D, Jensen CH, Beach F, Burnett L.

J Inherit Metab Dis. 2004;27(2):289-90.

PMID:
15243987
20.

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