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237 related items for PubMed ID: 11783960

  • 1. 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; 27(5):950-9. PubMed ID: 11783960
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. [Colombian haplotypes of the Gaucher disease-causing N370S mutation may originate from a possible common ancestral haplotype].
    Wilches R, Vega H, Echeverri O, Barrera LA.
    Biomedica; 2006 Sep 07; 26(3):434-41. PubMed ID: 17176007
    [Abstract] [Full Text] [Related]

  • 5. Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation.
    Amaral O, Marcão A, Pinto E, Zimran A, Miranda MC.
    Blood Cells Mol Dis; 1997 Dec 07; 23(3):415-6. PubMed ID: 9446756
    [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 Dec 07; 12(4):240-4. PubMed ID: 9744474
    [Abstract] [Full Text] [Related]

  • 7. 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 Dec 07; 27(5):882-91. PubMed ID: 11783951
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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]

  • 10. 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 Jun 07; 5(4):303-9. PubMed ID: 7627184
    [Abstract] [Full Text] [Related]

  • 11. 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 Jun 07; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.
    Clark LN, Nicolai A, Afridi S, Harris J, Mejia-Santana H, Strug L, Cote LJ, Louis ED, Andrews H, Waters C, Ford B, Frucht S, Fahn S, Mayeux R, Ottman R, Marder K.
    Mov Disord; 2005 Jan 07; 20(1):100-3. PubMed ID: 15517591
    [Abstract] [Full Text] [Related]

  • 14. Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
    Santamaria R, Michelakakis H, Moraitou M, Dimitriou E, Dominissini S, Grossi S, Sánchez-Ollé G, Chabás A, Pittis MG, Filocamo M, Vilageliu L, Grinberg D.
    Hum Mutat; 2008 Jun 07; 29(6):E58-67. PubMed ID: 18429048
    [Abstract] [Full Text] [Related]

  • 15. 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 07; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 01; 10(9):511-5. PubMed ID: 12173027
    [Abstract] [Full Text] [Related]

  • 18. [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 Sep 01; 41(4):41-7. PubMed ID: 18030725
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 26(5):409-16. PubMed ID: 11112377
    [Abstract] [Full Text] [Related]

  • 20. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
    Emre S, Gürakan F, Yüce A, Rolf A, Scott R, Ozen H.
    Eur J Med Genet; 2008 Oct 01; 51(4):315-21. PubMed ID: 18586596
    [Abstract] [Full Text] [Related]

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