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451 related items for PubMed ID: 9635296

  • 1. 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]

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

  • 3. 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]

  • 4. 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 Oct; 12(4):240-4. PubMed ID: 9744474
    [Abstract] [Full Text] [Related]

  • 5. 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; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

  • 6. Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations.
    Kolodny EH, Firon N, Eyal N, Horowitz M.
    Am J Med Genet; 1990 Aug; 36(4):467-72. PubMed ID: 2117855
    [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. 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 15; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

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  • 10. 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]

  • 11. DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
    Choy FY, Wei C, Applegarth DA, McGillivray BC.
    Am J Med Genet; 1994 Jun 01; 51(2):156-60. PubMed ID: 7916532
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 43(5):571-8. PubMed ID: 9585001
    [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. 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]

  • 15. 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]

  • 16. The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
    Orvisky E, Park JK, Parker A, Walker JM, Martin BM, Stubblefield BK, Uyama E, Tayebi N, Sidransky E.
    Hum Mutat; 2002 Apr 07; 19(4):458-9. PubMed ID: 11933202
    [Abstract] [Full Text] [Related]

  • 17. 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 Apr 07; 39(3):348-52. PubMed ID: 17689991
    [Abstract] [Full Text] [Related]

  • 18. 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 07; 10(9):511-5. PubMed ID: 12173027
    [Abstract] [Full Text] [Related]

  • 19. An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.
    Shore S, Tomczak J, Grebner EE, Myerowitz R.
    Hum Mutat; 1992 Sep 07; 1(6):486-90. PubMed ID: 1301958
    [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 Sep 07; 27(5):950-9. PubMed ID: 11783960
    [Abstract] [Full Text] [Related]

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