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Journal Abstract Search

157 related items for PubMed ID: 9446756

  • 1. 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; 23(3):415-6. PubMed ID: 9446756
    [Abstract] [Full Text] [Related]

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

  • 3. The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism.
    Lacerda L, Amaral O, Pinto R, Aerts J, Sá Miranda MC.
    J Inherit Metab Dis; 1994 Dec; 17(1):85-8. PubMed ID: 8051940
    [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 Dec; 12(4):240-4. PubMed ID: 9744474
    [Abstract] [Full Text] [Related]

  • 5. [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; 26(3):434-41. PubMed ID: 17176007
    [Abstract] [Full Text] [Related]

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

  • 7. 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]

  • 8. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.
    Lacerda L, Amaral O, Pinto R, Oliveira P, Aerts J, Sá Miranda MC.
    Clin Genet; 1994 Jun 07; 45(6):298-300. PubMed ID: 7923859
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago.
    Díaz A, Montfort M, Cormand B, Zeng B, Pastores GM, Chabás A, Vilageliu L, Grinberg D.
    Am J Hum Genet; 1999 Apr 07; 64(4):1233-8. PubMed ID: 10090913
    [No Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
    Zimran A, Neudorfer O, Elstein D.
    N Engl J Med; 2005 Feb 17; 352(7):728-31; author reply 728-31. PubMed ID: 15719452
    [No Abstract] [Full Text] [Related]

  • 14. [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 Feb 17; 41(4):41-7. PubMed ID: 18030725
    [Abstract] [Full Text] [Related]

  • 15. Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.
    Colombo R.
    Am J Hum Genet; 2000 Feb 17; 66(2):692-7. PubMed ID: 10677327
    [Abstract] [Full Text] [Related]

  • 16. 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 Feb 17; 15(2):181-8. PubMed ID: 10649495
    [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 17; 10(9):511-5. PubMed ID: 12173027
    [Abstract] [Full Text] [Related]

  • 18. 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 17; 26(5):409-16. PubMed ID: 11112377
    [Abstract] [Full Text] [Related]

  • 19. Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles.
    Sawkar AR, Adamski-Werner SL, Cheng WC, Wong CH, Beutler E, Zimmer KP, Kelly JW.
    Chem Biol; 2005 Nov 17; 12(11):1235-44. PubMed ID: 16298303
    [Abstract] [Full Text] [Related]

  • 20. Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
    Amaral O, Marcão A, Sá Miranda M, Desnick RJ, Grace ME.
    Eur J Hum Genet; 2000 Feb 17; 8(2):95-102. PubMed ID: 10757640
    [Abstract] [Full Text] [Related]

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