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Journal Abstract Search

220 related items for PubMed ID: 14582604

  • 1. Carrier testing for autosomal-recessive disorders.
    Vallance H, Ford J.
    Crit Rev Clin Lab Sci; 2003 Aug; 40(4):473-97. PubMed ID: 14582604
    [Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 19815695
    [Abstract] [Full Text] [Related]

  • 3. Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
    Wilson RD, De Bie I, Armour CM, Brown RN, Campagnolo C, Carroll JC, Okun N, Nelson T, Zwingerman R, Audibert F, Brock JA, Brown RN, Campagnolo C, Carroll JC, De Bie I, Johnson JA, Okun N, Pastruck M, Vallée-Pouliot K, Wilson RD, Zwingerman R, Armour C, Chitayat D, De Bie I, Fernandez S, Kim R, Lavoie J, Leonard N, Nelson T, Taylor S, Van Allen M, Van Karnebeek C.
    J Obstet Gynaecol Can; 2016 Aug; 38(8):742-762.e3. PubMed ID: 27638987
    [Abstract] [Full Text] [Related]

  • 4. Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.
    Kronn D, Jansen V, Ostrer H.
    Arch Intern Med; 1998 Apr 13; 158(7):777-81. PubMed ID: 9554684
    [Abstract] [Full Text] [Related]

  • 5. ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
    ACOG Committee on Genetics.
    Obstet Gynecol; 2004 Aug 13; 104(2):425-8. PubMed ID: 15292027
    [Abstract] [Full Text] [Related]

  • 6. 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 13; 12(4 Suppl):S5-S14. PubMed ID: 20393311
    [Abstract] [Full Text] [Related]

  • 7. Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.
    DeMarchi JM, Caskey CT, Richards CS.
    Hum Mutat; 1996 Apr 13; 8(2):116-25. PubMed ID: 8844209
    [Abstract] [Full Text] [Related]

  • 8. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.
    Hussein N, Weng SF, Kai J, Kleijnen J, Qureshi N.
    Cochrane Database Syst Rev; 2015 Aug 12; 2015(8):CD010849. PubMed ID: 26264938
    [Abstract] [Full Text] [Related]

  • 9. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program.
    Rozenberg R, Pereira Lda V.
    Sao Paulo Med J; 2001 Jul 05; 119(4):146-9. PubMed ID: 11500789
    [Abstract] [Full Text] [Related]

  • 10. ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
    Obstet Gynecol; 2009 Oct 05; 114(4):950. PubMed ID: 19888064
    [Abstract] [Full Text] [Related]

  • 11. Prenatal genetic carrier testing using triple disease screening.
    Eng CM, Schechter C, Robinowitz J, Fulop G, Burgert T, Levy B, Zinberg R, Desnick RJ.
    JAMA; 1997 Oct 15; 278(15):1268-72. PubMed ID: 9333269
    [Abstract] [Full Text] [Related]

  • 12. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.
    Hussein N, Henneman L, Kai J, Qureshi N.
    Cochrane Database Syst Rev; 2021 Oct 11; 10(10):CD010849. PubMed ID: 34634131
    [Abstract] [Full Text] [Related]

  • 13.
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  • 14. Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
    Fares F, Badarneh K, Abosaleh M, Harari-Shaham A, Diukman R, David M.
    Prenat Diagn; 2008 Mar 11; 28(3):236-41. PubMed ID: 18264947
    [Abstract] [Full Text] [Related]

  • 15.
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  • 16. 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 11; 16(9):695-702. PubMed ID: 24577267
    [Abstract] [Full Text] [Related]

  • 17. Selected genetic disorders affecting Ashkenazi Jewish families.
    Weinstein LB.
    Fam Community Health; 2007 Sep 11; 30(1):50-62. PubMed ID: 17149032
    [Abstract] [Full Text] [Related]

  • 18. Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools.
    Mitchell JJ, Capua A, Clow C, Scriver CR.
    Am J Hum Genet; 1996 Oct 11; 59(4):793-8. PubMed ID: 8808593
    [Abstract] [Full Text] [Related]

  • 19. A re-examination of the use of ethnicity in prenatal carrier testing.
    Ross LF.
    Am J Med Genet A; 2012 Jan 11; 158A(1):19-23. PubMed ID: 22106058
    [Abstract] [Full Text] [Related]

  • 20. Enzymatic abnormalities in diseases of sphingolipid metabolism.
    Brady RO.
    Clin Chem; 1967 Jul 11; 13(7):565-77. PubMed ID: 5006481
    [No Abstract] [Full Text] [Related]

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