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Journal Abstract Search

368 related items for PubMed ID: 30506202

  • 1. Prenatal Diagnosis of Tay-Sachs Disease.
    Zhang J, Chen H, Kornreich R, Yu C.
    Methods Mol Biol; 2019; 1885():233-250. PubMed ID: 30506202
    [Abstract] [Full Text] [Related]

  • 2. Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
    Guetta E, Peleg L.
    Methods Mol Biol; 2008; 444():147-59. PubMed ID: 18425478
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  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Toro C, Shirvan L, Tifft C.
    ; 1993. PubMed ID: 20301397
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  • 10. First trimester prenatal diagnosis of Tay-Sachs disease using the sulfated synthetic substrate for hexosaminidase A.
    Callahan JW, Archibald A, Skomorowski MA, Shuman C, Clarke JT.
    Clin Biochem; 1990 Dec; 23(6):533-6. PubMed ID: 2149678
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  • 11. Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.
    Haghighi A, Masri A, Kornreich R, Desnick RJ.
    Mol Genet Metab; 2011 Dec; 104(4):700-2. PubMed ID: 21967858
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  • 12. 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.
    Hum Mutat; 1992 Dec; 1(4):303-9. PubMed ID: 1301938
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  • 13. Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
    Paw BH, Tieu PT, Kaback MM, Lim J, Neufeld EF.
    Am J Hum Genet; 1990 Oct; 47(4):698-705. PubMed ID: 2220809
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  • 16. 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
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  • 17. Rapid identification of HEXA mutations in Tay-Sachs patients.
    Giraud C, Dussau J, Azouguene E, Feillet F, Puech JP, Caillaud C.
    Biochem Biophys Res Commun; 2010 Feb 19; 392(4):599-602. PubMed ID: 20100466
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  • 18. Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.
    Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K.
    JAMA; 1993 Nov 17; 270(19):2307-15. PubMed ID: 8230592
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  • 20. Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
    Natowicz MR, Prence EM.
    Curr Opin Pediatr; 1996 Dec 17; 8(6):625-9. PubMed ID: 9018448
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