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282 related items for PubMed ID: 11112377

  • 1. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.
    Cormand B, Díaz A, Grinberg D, Chabás A, Vilageliu L.
    Blood Cells Mol Dis; 2000 Oct; 26(5):409-16. PubMed ID: 11112377
    [Abstract] [Full Text] [Related]

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

  • 3. 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; 63(4):281-8. PubMed ID: 9635296
    [Abstract] [Full Text] [Related]

  • 4. Glucocerebrosidase recombinant allele: molecular evolution of the glucocerebrosidase gene and pseudogene in primates.
    Wafaei JR, Choy FY.
    Blood Cells Mol Dis; 2005 Apr; 35(2):277-85. PubMed ID: 16102985
    [Abstract] [Full Text] [Related]

  • 5. 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; 26(4):307-11. PubMed ID: 11042032
    [Abstract] [Full Text] [Related]

  • 6. Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.
    Martínez-Arias R, Comas D, Mateu E, Bertranpetit J.
    Hum Mutat; 2001 Mar; 17(3):191-8. PubMed ID: 11241841
    [Abstract] [Full Text] [Related]

  • 7. Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity.
    Choy FY, Woo M, Der Kaloustian VM.
    Am J Med Genet; 1991 Jun 15; 39(4):466-71. PubMed ID: 1877626
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 25(1):100. PubMed ID: 15605411
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 15; 72(3):248-53. PubMed ID: 11243731
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.
    Tayebi N, Stern H, Dymarskaia I, Herman J, Sidransky E.
    Am J Med Genet; 1996 Dec 18; 66(3):316-9. PubMed ID: 8985494
    [Abstract] [Full Text] [Related]

  • 13. Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.
    Pomponio RJ, Cabrera-Salazar MA, Echeverri OY, Miller G, Barrera LA.
    Mol Genet Metab; 2005 Dec 18; 86(4):466-72. PubMed ID: 16185907
    [Abstract] [Full Text] [Related]

  • 14. Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.
    Romano M, Danek GM, Baralle FE, Mazzotti R, Filocamo M.
    Blood Cells Mol Dis; 2000 Jun 18; 26(3):171-6. PubMed ID: 10950936
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 Oct 28; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

  • 17. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
    Hruska KS, LaMarca ME, Scott CR, Sidransky E.
    Hum Mutat; 2008 May 28; 29(5):567-83. PubMed ID: 18338393
    [Abstract] [Full Text] [Related]

  • 18. 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 May 28; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

  • 19. 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 May 28; 27(5):882-91. PubMed ID: 11783951
    [Abstract] [Full Text] [Related]

  • 20. 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 May 28; 27(5):950-9. PubMed ID: 11783960
    [Abstract] [Full Text] [Related]

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