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366 related items for PubMed ID: 12173027

  • 1. 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]

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

  • 4. 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]

  • 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 01; 51(4):315-21. PubMed ID: 18586596
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. [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 Mar 01; 41(4):41-7. PubMed ID: 18030725
    [Abstract] [Full Text] [Related]

  • 8. Gaucher disease in Spanish patients: analysis of eight mutations.
    Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabás A.
    Hum Mutat; 1995 Mar 01; 5(4):303-9. PubMed ID: 7627184
    [Abstract] [Full Text] [Related]

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  • 10. Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.
    Alfonso P, Cenarro A, Pérez-Calvo JI, Giralt M, Giraldo P, Pocoví M.
    Blood Cells Mol Dis; 2001 Mar 01; 27(5):882-91. PubMed ID: 11783951
    [Abstract] [Full Text] [Related]

  • 11. 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 Mar 01; 39(3):348-52. PubMed ID: 17689991
    [Abstract] [Full Text] [Related]

  • 12. Clinical and genetic characteristics of Korean patients with Gaucher disease.
    Jeong SY, Park SJ, Kim HJ.
    Blood Cells Mol Dis; 2011 Jan 15; 46(1):11-4. PubMed ID: 20729108
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 15; 20(3):234-5. PubMed ID: 12204005
    [Abstract] [Full Text] [Related]

  • 15. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
    Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L.
    Hum Mutat; 1998 Sep 15; 11(4):295-305. PubMed ID: 9554746
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 53(3):387-95. PubMed ID: 12595585
    [Abstract] [Full Text] [Related]

  • 17. Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene.
    Rockah R, Narinsky R, Frydman M, Cohen IJ, Zaizov R, Weizman A, Frisch A.
    Am J Med Genet; 1998 Jul 07; 78(3):233-6. PubMed ID: 9677056
    [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 Jul 07; 10(5):348-58. PubMed ID: 9375849
    [Abstract] [Full Text] [Related]

  • 19. Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.
    Filocamo M, Bonuccelli G, Mazzotti R, Giona F, Gatti R.
    Blood Cells Mol Dis; 2000 Aug 07; 26(4):307-11. PubMed ID: 11042032
    [Abstract] [Full Text] [Related]

  • 20. 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 07; 63(4):281-8. PubMed ID: 9635296
    [Abstract] [Full Text] [Related]

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