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253 related items for PubMed ID: 11204625

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

  • 2. 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; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

  • 3. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
    Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E.
    Hum Mutat; 2000; 15(2):181-8. PubMed ID: 10649495
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
    Emre S, Gürakan F, Yüce A, Rolf A, Scott R, Ozen H.
    Eur J Med Genet; 2008 Mar; 51(4):315-21. PubMed ID: 18586596
    [Abstract] [Full Text] [Related]

  • 6. 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; 42(6):e37. PubMed ID: 15937077
    [Abstract] [Full Text] [Related]

  • 7. 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; 10(9):511-5. PubMed ID: 12173027
    [Abstract] [Full Text] [Related]

  • 8. 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; 90(1):81-6. PubMed ID: 16996765
    [Abstract] [Full Text] [Related]

  • 9. Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
    Torralba MA, Pérez-Calvo JI, Pastores GM, Cenarro A, Giraldo P, Pocoví M.
    Blood Cells Mol Dis; 2001 Jan; 27(2):489-95. PubMed ID: 11259172
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Clinical and molecular aspects of Gaucher disease in New Zealand.
    Woodfield MJ, Woodfield DG, Winship IM.
    N Z Med J; 1997 Aug 22; 110(1050):316-9. PubMed ID: 9315031
    [Abstract] [Full Text] [Related]

  • 12. Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.
    Schmitz M, Alfalah M, Aerts JM, Naim HY, Zimmer KP.
    Int J Biochem Cell Biol; 2005 Nov 22; 37(11):2310-20. PubMed ID: 15982918
    [Abstract] [Full Text] [Related]

  • 13. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
    Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L.
    Blood Cells Mol Dis; 2005 Nov 22; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

  • 14. Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
    Suwannarat P, Keeratichamroen S, Wattanasirichaigoon D, Ngiwsara L, Cairns JR, Svasti J, Visudtibhan A, Pangkanon S.
    Blood Cells Mol Dis; 2007 Nov 22; 39(3):348-52. PubMed ID: 17689991
    [Abstract] [Full Text] [Related]

  • 15. [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 Nov 22; 41(4):41-7. PubMed ID: 18030725
    [Abstract] [Full Text] [Related]

  • 16. [Molecular diagnosis and gene therapy for Gaucher disease].
    Ohashi T.
    Nihon Rinsho; 1993 Sep 22; 51(9):2300-7. PubMed ID: 8411706
    [Abstract] [Full Text] [Related]

  • 17. Mutations causing Gaucher disease.
    Horowitz M, Zimran A.
    Hum Mutat; 1994 Sep 22; 3(1):1-11. PubMed ID: 8118460
    [Abstract] [Full Text] [Related]

  • 18. Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system.
    Hodanová K, Melková Z, Horowitz M, Hrebícek M.
    Eur J Hum Genet; 2003 May 22; 11(5):369-74. PubMed ID: 12734541
    [Abstract] [Full Text] [Related]

  • 19. Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
    Filocamo M, Mazzotti R, Stroppiano M, Seri M, Giona F, Parenti G, Regis S, Corsolini F, Zoboli S, Gatti R.
    Hum Mutat; 2002 Sep 22; 20(3):234-5. PubMed ID: 12204005
    [Abstract] [Full Text] [Related]

  • 20. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
    Montfort M, Chabás A, Vilageliu L, Grinberg D.
    Hum Mutat; 2004 Jun 22; 23(6):567-75. PubMed ID: 15146461
    [Abstract] [Full Text] [Related]

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