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Journal Abstract Search

279 related items for PubMed ID: 9677056

  • 1. 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]

  • 2. Structure and linkage relationships of the region containing the human L-type pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes.
    Demina A, Boas E, Beutler E.
    Hematopathol Mol Hematol; 1998 Jul 07; 11(2):63-71. PubMed ID: 9608355
    [Abstract] [Full Text] [Related]

  • 3. Linkage to Gaucher mutations in the Ashkenazi population: effect of drift on decay of linkage disequilibrium and evidence for heterozygote selection.
    Boas FE.
    Blood Cells Mol Dis; 2000 Aug 07; 26(4):348-59. PubMed ID: 11042036
    [Abstract] [Full Text] [Related]

  • 4. 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 Aug 07; 27(5):950-9. PubMed ID: 11783960
    [Abstract] [Full Text] [Related]

  • 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 Aug 07; 11(4):295-305. PubMed ID: 9554746
    [Abstract] [Full Text] [Related]

  • 6. PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations.
    Mateu E, Pérez-Lezaun A, Martínez-Arias R, Andrés A, Vallés M, Bertranpetit J, Calafell F.
    Hum Genet; 2002 Jun 07; 110(6):532-44. PubMed ID: 12107439
    [Abstract] [Full Text] [Related]

  • 7. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
    Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ.
    Am J Hum Genet; 2000 Jun 07; 66(6):1821-32. PubMed ID: 10777718
    [Abstract] [Full Text] [Related]

  • 8. 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 Jun 07; 12(4):240-4. PubMed ID: 9744474
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. 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]

  • 12. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
    Hruska KS, LaMarca ME, Scott CR, Sidransky E.
    Hum Mutat; 2008 May 15; 29(5):567-83. PubMed ID: 18338393
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 27(5):882-91. PubMed ID: 11783951
    [Abstract] [Full Text] [Related]

  • 14. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
    Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R.
    N Engl J Med; 2004 Nov 04; 351(19):1972-7. PubMed ID: 15525722
    [Abstract] [Full Text] [Related]

  • 15. Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes.
    Glenn D, Gelbart T, Beutler E.
    Hum Genet; 1994 Jun 04; 93(6):635-8. PubMed ID: 8005587
    [Abstract] [Full Text] [Related]

  • 16. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.
    Beutler E, Gelbart T.
    Hum Mutat; 1994 Jun 04; 4(3):212-6. PubMed ID: 7833951
    [Abstract] [Full Text] [Related]

  • 17. 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 04; 26(4):307-11. PubMed ID: 11042032
    [Abstract] [Full Text] [Related]

  • 18. 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 Aug 04; 15(2):181-8. PubMed ID: 10649495
    [Abstract] [Full Text] [Related]

  • 19. [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 Aug 04; 41(4):41-7. PubMed ID: 18030725
    [Abstract] [Full Text] [Related]

  • 20. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
    Boot RG, Hollak CE, Verhoek M, Sloof P, Poorthuis BJ, Kleijer WJ, Wevers RA, van Oers MH, Mannens MM, Aerts JM, van Weely S.
    Hum Mutat; 1997 Aug 04; 10(5):348-58. PubMed ID: 9375849
    [Abstract] [Full Text] [Related]

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