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336 related items for PubMed ID: 11259172

  • 1. 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; 27(2):489-95. PubMed ID: 11259172
    [Abstract] [Full Text] [Related]

  • 2. 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; 23(6):567-75. PubMed ID: 15146461
    [Abstract] [Full Text] [Related]

  • 3. 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 Jun; 27(5):882-91. PubMed ID: 11783951
    [Abstract] [Full Text] [Related]

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  • 5. 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 Jun; 11(4):295-305. PubMed ID: 9554746
    [Abstract] [Full Text] [Related]

  • 6. 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; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

  • 7. 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 Jun; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

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

  • 9. Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
    Choy FY, Wei C, Levin D.
    Am J Med Genet; 1996 Oct 28; 65(3):184-9. PubMed ID: 9240741
    [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 Oct 28; 41(4):41-7. PubMed ID: 18030725
    [Abstract] [Full Text] [Related]

  • 11. 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 Oct 28; 15(2):181-8. PubMed ID: 10649495
    [Abstract] [Full Text] [Related]

  • 12. Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
    Miocić S, Filocamo M, Dominissini S, Montalvo AL, Vlahovicek K, Deganuto M, Mazzotti R, Cariati R, Bembi B, Pittis MG.
    Hum Mutat; 2005 Jan 28; 25(1):100. PubMed ID: 15605411
    [Abstract] [Full Text] [Related]

  • 13. Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
    Amaral O, Marcão A, Sá Miranda M, Desnick RJ, Grace ME.
    Eur J Hum Genet; 2000 Feb 28; 8(2):95-102. PubMed ID: 10757640
    [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 Feb 28; 39(3):348-52. PubMed ID: 17689991
    [Abstract] [Full Text] [Related]

  • 15. Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.
    Sarria AJ, Giraldo P, Perez-Calvo JI, Pocoví M.
    Hum Mutat; 1999 Feb 28; 14(1):88. PubMed ID: 10447266
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients.
    Alfonso P, Rodríguez-Rey JC, Gañán A, Pérez-Calvo JI, Giralt M, Giraldo P, Pocoví M.
    Blood Cells Mol Dis; 2004 Jan 15; 32(1):218-25. PubMed ID: 14757438
    [Abstract] [Full Text] [Related]

  • 18. Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.
    Montfort M, Chabás A, Vilageliu L, Grinberg D.
    Blood Cells Mol Dis; 2006 Jan 15; 36(1):46-52. PubMed ID: 16326120
    [Abstract] [Full Text] [Related]

  • 19. 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 Jan 15; 5(4):303-9. PubMed ID: 7627184
    [Abstract] [Full Text] [Related]

  • 20. A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.
    Sinclair G, Choy FY, Humphries L.
    Blood Cells Mol Dis; 1998 Dec 15; 24(4):420-7. PubMed ID: 9851895
    [Abstract] [Full Text] [Related]

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