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Journal Abstract Search

137 related items for PubMed ID: 20721872

  • 1. Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned?
    Eitan Y, Abrahamov A, Phillips M, Elstein D, Zimran A.
    Prenat Diagn; 2010 Oct; 30(10):924-7. PubMed ID: 20721872
    [Abstract] [Full Text] [Related]

  • 2.
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  • 3. Gaucher disease: gene frequencies and genotype/phenotype correlations.
    Grabowski GA.
    Genet Test; 1997 Oct; 1(1):5-12. PubMed ID: 10464619
    [Abstract] [Full Text] [Related]

  • 4. Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.
    Cormand B, Montfort M, Chabás A, Grinberg D, Vilageliu LL.
    Prenat Diagn; 1998 Mar; 18(3):207-12. PubMed ID: 9556036
    [Abstract] [Full Text] [Related]

  • 5. [Acute infantile cerebral form of Gaucher disease].
    Süss J.
    Geburtshilfe Frauenheilkd; 1991 Nov; 51(11):936-8. PubMed ID: 1773930
    [Abstract] [Full Text] [Related]

  • 6. Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.
    Mao R, O'Brien JF, Rao S, Schmitt E, Roa B, Feldman GL, Spence WC, Snow K.
    Mol Genet Metab; 2001 Mar; 72(3):248-53. PubMed ID: 11243731
    [Abstract] [Full Text] [Related]

  • 7. Prenatal panel screening considerations for non-neuronopathic Gaucher disease in the Ashkenazi-Jewish population.
    Kannai R, Chertok IR.
    Isr Med Assoc J; 2006 May; 8(5):347-50. PubMed ID: 16805236
    [Abstract] [Full Text] [Related]

  • 8. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.
    Zimran A, Horowitz M.
    Am J Med Genet; 1994 Mar 01; 50(1):74-8. PubMed ID: 8160756
    [Abstract] [Full Text] [Related]

  • 9. Divergent phenotypes in Gaucher disease implicate the role of modifiers.
    Goker-Alpan O, Hruska KS, Orvisky E, Kishnani PS, Stubblefield BK, Schiffmann R, Sidransky E.
    J Med Genet; 2005 Jun 01; 42(6):e37. PubMed ID: 15937077
    [Abstract] [Full Text] [Related]

  • 10. [Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].
    Horovenko NH, Ol'khovych NV, Nedoboĭ AM, Pichkur NO.
    Tsitol Genet; 2007 Jun 01; 41(4):41-7. PubMed ID: 18030725
    [Abstract] [Full Text] [Related]

  • 11. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
    Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P.
    Blood Cells Mol Dis; 2007 Jun 01; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 31(6):738-44. PubMed ID: 18979180
    [Abstract] [Full Text] [Related]

  • 13. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.
    Sobreira E, Pires RF, Cizmarik M, Grabowski GA.
    Mol Genet Metab; 2007 Jan 01; 90(1):81-6. PubMed ID: 16996765
    [Abstract] [Full Text] [Related]

  • 14. [Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity].
    Beĭer EM, Bukina TM, Tsvetkova IV.
    Vopr Med Khim; 2000 Jan 01; 46(5):451-4. PubMed ID: 11204625
    [Abstract] [Full Text] [Related]

  • 15. Look before you leap. Carrier screening for type 1 Gaucher disease: difficult questions.
    Borry P, Clarke A, Dierickx K.
    Eur J Hum Genet; 2008 Feb 01; 16(2):139-40. PubMed ID: 18043719
    [No Abstract] [Full Text] [Related]

  • 16. Mutation analysis of 28 Gaucher disease patients: the Australasian experience.
    Lewis BD, Nelson PV, Robertson EF, Morris CP.
    Am J Med Genet; 1994 Jan 15; 49(2):218-23. PubMed ID: 8116672
    [Abstract] [Full Text] [Related]

  • 17. Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation.
    Amaral O, Marcão A, Pinto E, Zimran A, Miranda MC.
    Blood Cells Mol Dis; 1997 Dec 15; 23(3):415-6. PubMed ID: 9446756
    [Abstract] [Full Text] [Related]

  • 18. Enzyme, substrate, and myeloma in Gaucher disease.
    Hughes DA.
    Am J Hematol; 2009 Apr 15; 84(4):199-201. PubMed ID: 19291728
    [No Abstract] [Full Text] [Related]

  • 19. 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 15; 10(9):511-5. PubMed ID: 12173027
    [Abstract] [Full Text] [Related]

  • 20. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.
    Beutler E, Gelbart T.
    Hum Mutat; 1994 Sep 15; 4(3):212-6. PubMed ID: 7833951
    [Abstract] [Full Text] [Related]

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