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443 related items for PubMed ID: 16996765

  • 1. 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]

  • 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 Jan; 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 Jan; 15(2):181-8. PubMed ID: 10649495
    [Abstract] [Full Text] [Related]

  • 4. [Gaucher disease: clinical, genetic and therapeutic aspects].
    Germain DP.
    Pathol Biol (Paris); 2004 Jul; 52(6):343-50. PubMed ID: 15261378
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 Sep; 12(4):240-4. PubMed ID: 9744474
    [Abstract] [Full Text] [Related]

  • 7. DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
    Sidransky E, Bottler A, Stubblefield B, Ginns EI.
    Hum Mutat; 1994 Sep; 3(1):25-8. PubMed ID: 8118463
    [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. 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 Mar 01; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

  • 10. Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
    Reissner K, Tayebi N, Stubblefield BK, Koprivica V, Blitzer M, Holleran W, Cowan T, Almashanu S, Maddalena A, Karson EM, Sidransky E.
    Mol Genet Metab; 1998 Apr 01; 63(4):281-8. PubMed ID: 9635296
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. [Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity].
    Beĭer EM, Bukina TM, Tsvetkova IV.
    Vopr Med Khim; 2000 Jan 15; 46(5):451-4. PubMed ID: 11204625
    [Abstract] [Full Text] [Related]

  • 13. [From gene to disease; Gaucher disease].
    Hollak CE, Boot RG, Poorthuis BJ, Aerts JM.
    Ned Tijdschr Geneeskd; 2005 Sep 24; 149(39):2163-6. PubMed ID: 16223076
    [Abstract] [Full Text] [Related]

  • 14. Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients.
    Grabowski GA, Goldblatt J, Dinur T, Kruse J, Svennerholm L, Gatt S, Desnick RJ.
    Am J Med Genet; 1985 Jul 24; 21(3):529-49. PubMed ID: 3927728
    [Abstract] [Full Text] [Related]

  • 15. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
    Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E.
    Pediatr Res; 2003 Mar 24; 53(3):387-95. PubMed ID: 12595585
    [Abstract] [Full Text] [Related]

  • 16. New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms.
    Rodríguez-Marí A, Díaz-Font A, Chabás A, Pastores GM, Grinberg D, Vilageliu L.
    Blood Cells Mol Dis; 2001 Mar 24; 27(5):950-9. PubMed ID: 11783960
    [Abstract] [Full Text] [Related]

  • 17. Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype.
    Beutler E, West C.
    Isr Med Assoc J; 2002 Nov 24; 4(11):986-8. PubMed ID: 12489486
    [Abstract] [Full Text] [Related]

  • 18. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
    Boot RG, Hollak CE, Verhoek M, Sloof P, Poorthuis BJ, Kleijer WJ, Wevers RA, van Oers MH, Mannens MM, Aerts JM, van Weely S.
    Hum Mutat; 1997 Nov 24; 10(5):348-58. PubMed ID: 9375849
    [Abstract] [Full Text] [Related]

  • 19. 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 24; 39(3):348-52. PubMed ID: 17689991
    [Abstract] [Full Text] [Related]

  • 20. [Gaucher disease: diagnosis and treatment].
    Fumić K, Stavljenić-Rukavina A, Mrsić M, Potocki K.
    Acta Med Croatica; 2004 Nov 24; 58(5):353-8. PubMed ID: 15756799
    [Abstract] [Full Text] [Related]

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