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191 related items for PubMed ID: 7627184

  • 1. 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; 5(4):303-9. PubMed ID: 7627184
    [Abstract] [Full Text] [Related]

  • 2. 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; 27(5):882-91. PubMed ID: 11783951
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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; 11(4):295-305. PubMed ID: 9554746
    [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. 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]

  • 8. 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]

  • 9. 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 Jan 15; 3(1):25-8. PubMed ID: 8118463
    [Abstract] [Full Text] [Related]

  • 10. 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 Jan 15; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

  • 11. 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 Jan 15; 27(5):950-9. PubMed ID: 11783960
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 27(2):489-95. PubMed ID: 11259172
    [Abstract] [Full Text] [Related]

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

  • 14. 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]

  • 15. DNA mutation analysis of Gaucher patients.
    Sidransky E, Tsuji S, Martin BM, Stubblefield B, Ginns EI.
    Am J Med Genet; 1992 Feb 01; 42(3):331-6. PubMed ID: 1536173
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 23(6):567-75. PubMed ID: 15146461
    [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. Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles.
    Hodanová K, Hrebícek M, Cervenková M, Mrázová L, Vepreková L, Zemen J.
    Blood Cells Mol Dis; 1999 Jul 07; 25(5-6):287-98. PubMed ID: 10744424
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
    Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E.
    Am J Hum Genet; 2000 Jun 07; 66(6):1777-86. PubMed ID: 10796875
    [Abstract] [Full Text] [Related]

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