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212 related items for PubMed ID: 20837833

  • 1. Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.
    Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ.
    Arch Intern Med; 2010 Sep 13; 170(16):1463-9. PubMed ID: 20837833
    [Abstract] [Full Text] [Related]

  • 2. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
    Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman S.
    J Inherit Metab Dis; 2008 Dec 13; 31(6):738-44. PubMed ID: 18979180
    [Abstract] [Full Text] [Related]

  • 3. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
    Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ.
    Am J Hum Genet; 2000 Jun 13; 66(6):1821-32. PubMed ID: 10777718
    [Abstract] [Full Text] [Related]

  • 4. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.
    Horowitz M, Pasmanik-Chor M, Borochowitz Z, Falik-Zaccai T, Heldmann K, Carmi R, Parvari R, Beit-Or H, Goldman B, Peleg L, Levy-Lahad E, Renbaum P, Legum S, Shomrat R, Yeger H, Benbenisti D, Navon R, Dror V, Shohat M, Magal N, Navot N, Eyal N.
    Hum Mutat; 1998 Jun 13; 12(4):240-4. PubMed ID: 9744474
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Children with type 1 Gaucher disease: Changing profiles in the 21st century.
    Elstein D, Altarescu G, Abrahamov A, Zimran A.
    Blood Cells Mol Dis; 2018 Feb 13; 68():93-96. PubMed ID: 28185830
    [Abstract] [Full Text] [Related]

  • 7. Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.
    Zuckerman S, Lahad A, Shmueli A, Zimran A, Peleg L, Orr-Urtreger A, Levy-Lahad E, Sagi M.
    JAMA; 2007 Sep 19; 298(11):1281-90. PubMed ID: 17878420
    [Abstract] [Full Text] [Related]

  • 8. Gaucher disease: gene frequencies in the Ashkenazi Jewish population.
    Beutler E, Nguyen NJ, Henneberger MW, Smolec JM, McPherson RA, West C, Gelbart T.
    Am J Hum Genet; 1993 Jan 19; 52(1):85-8. PubMed ID: 8434610
    [Abstract] [Full Text] [Related]

  • 9. Gaucher disease: gene frequencies and genotype/phenotype correlations.
    Grabowski GA.
    Genet Test; 1997 Jan 19; 1(1):5-12. PubMed ID: 10464619
    [Abstract] [Full Text] [Related]

  • 10. An update of Gaucher mutations distribution in the Ashkenazi Jewish population: prevalence and country of origin of the mutation R496H.
    Bronstein S, Karpati M, Peleg L.
    Isr Med Assoc J; 2014 Nov 19; 16(11):683-5. PubMed ID: 25558695
    [Abstract] [Full Text] [Related]

  • 11. Carrier screening for Gaucher disease in couples of mixed ethnicity.
    Wallerstein R, Starkman A, Jansen V.
    Genet Test; 2001 Nov 19; 5(1):61-4. PubMed ID: 11336404
    [Abstract] [Full Text] [Related]

  • 12. Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.
    Aviner S, Garty BZ, Rachmel A, Baris HN, Sidransky E, Shuffer A, Attias J, Yaniv Y, Cohen IJ.
    Blood Cells Mol Dis; 2009 Nov 19; 43(3):294-7. PubMed ID: 19734074
    [Abstract] [Full Text] [Related]

  • 13. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.
    Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R.
    Hum Mutat; 2010 Nov 19; 31(11):1240-50. PubMed ID: 20672374
    [Abstract] [Full Text] [Related]

  • 14. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.
    Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA.
    Am J Hum Genet; 1993 Jun 19; 52(6):1094-101. PubMed ID: 8503443
    [Abstract] [Full Text] [Related]

  • 15. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.
    Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E.
    Am J Hum Genet; 1991 Oct 19; 49(4):855-9. PubMed ID: 1897529
    [Abstract] [Full Text] [Related]

  • 16. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.
    Lacerda L, Amaral O, Pinto R, Oliveira P, Aerts J, Sá Miranda MC.
    Clin Genet; 1994 Jun 19; 45(6):298-300. PubMed ID: 7923859
    [Abstract] [Full Text] [Related]

  • 17. The clinical course of untreated Gaucher disease in 22 patients over 10 years: hematological and skeletal manifestations.
    Piran S, Roberts A, Patterson MA, Amato D.
    Blood Cells Mol Dis; 2009 Jun 19; 43(3):289-93. PubMed ID: 19793665
    [Abstract] [Full Text] [Related]

  • 18. Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
    Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L, Caillaud C.
    Eur J Hum Genet; 2002 Sep 19; 10(9):511-5. PubMed ID: 12173027
    [Abstract] [Full Text] [Related]

  • 19. Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.
    Kornreich R, Ekstein J, Edelmann L, Desnick RJ.
    Genet Med; 2004 Sep 19; 6(5):415-20. PubMed ID: 15371906
    [Abstract] [Full Text] [Related]

  • 20. Adult Gaucher disease in southern Tunisia: report of three cases.
    Ben Rhouma F, Kallel F, Kefi R, Cherif W, Nagara M, Azaiez H, Jedidi I, Elloumi M, Abdelhak S, Mseddi S.
    Diagn Pathol; 2012 Jan 10; 7():4. PubMed ID: 22233685
    [Abstract] [Full Text] [Related]

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