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368 related items for PubMed ID: 12595585

  • 1. 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; 53(3):387-95. PubMed ID: 12595585
    [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 Mar; 38(3):287-93. PubMed ID: 17196853
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  • 4. 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; 39(3):348-52. PubMed ID: 17689991
    [Abstract] [Full Text] [Related]

  • 5. 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 Mar; 15(2):181-8. PubMed ID: 10649495
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  • 7. Gaucher disease: complexity in a "simple" disorder.
    Sidransky E.
    Mol Genet Metab; 2004 Mar; 83(1-2):6-15. PubMed ID: 15464415
    [Abstract] [Full Text] [Related]

  • 8. Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.
    Tayebi N, Reissner KJ, Lau EK, Stubblefield BK, Klineburgess AC, Martin BM, Sidransky E.
    Pediatr Res; 1998 May; 43(5):571-8. PubMed ID: 9585001
    [Abstract] [Full Text] [Related]

  • 9. Gaucher mutation N188S is associated with myoclonic epilepsy.
    Kowarz L, Goker-Alpan O, Banerjee-Basu S, LaMarca ME, Kinlaw L, Schiffmann R, Baxevanis AD, Sidransky E.
    Hum Mutat; 2005 Sep; 26(3):271-3; author reply 274-5. PubMed ID: 16086325
    [Abstract] [Full Text] [Related]

  • 10. Divergent phenotypes in Gaucher disease implicate the role of modifiers.
    Goker-Alpan O, Hruska KS, Orvisky E, Kishnani PS, Stubblefield BK, Schiffmann R, Sidransky E.
    J Med Genet; 2005 Jun; 42(6):e37. PubMed ID: 15937077
    [Abstract] [Full Text] [Related]

  • 11. Gaucher disease patient with myoclonus epilepsy and a novel mutation.
    Tajima A, Ohashi T, Hamano S, Higurashi N, Ida H.
    Pediatr Neurol; 2010 Jan; 42(1):65-8. PubMed ID: 20004867
    [Abstract] [Full Text] [Related]

  • 12. Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.
    Orvisky E, Sidransky E, McKinney CE, Lamarca ME, Samimi R, Krasnewich D, Martin BM, Ginns EI.
    Pediatr Res; 2000 Aug; 48(2):233-7. PubMed ID: 10926300
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 Mar 01; 3(1):25-8. PubMed ID: 8118463
    [Abstract] [Full Text] [Related]

  • 15. Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).
    Filocamo M, Mazzotti R, Stroppiano M, Grossi S, Dravet C, Guerrini R.
    Epilepsia; 2004 Sep 01; 45(9):1154-7. PubMed ID: 15329082
    [Abstract] [Full Text] [Related]

  • 16. Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.
    Orvisky E, Park JK, LaMarca ME, Ginns EI, Martin BM, Tayebi N, Sidransky E.
    Mol Genet Metab; 2002 Aug 01; 76(4):262-70. PubMed ID: 12208131
    [Abstract] [Full Text] [Related]

  • 17. 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 Aug 01; 27(2):489-95. PubMed ID: 11259172
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
    Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E.
    Mol Genet Metab; 2003 Jun 01; 79(2):104-9. PubMed ID: 12809640
    [Abstract] [Full Text] [Related]

  • 20. 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]

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