These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

157 related items for PubMed ID: 9446756

  • 21. 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; 26(4):348-59. PubMed ID: 11042036
    [Abstract] [Full Text] [Related]

  • 22. 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 Aug; 51(4):315-21. PubMed ID: 18586596
    [Abstract] [Full Text] [Related]

  • 23. Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
    Filocamo M, Mazzotti R, Stroppiano M, Seri M, Giona F, Parenti G, Regis S, Corsolini F, Zoboli S, Gatti R.
    Hum Mutat; 2002 Sep; 20(3):234-5. PubMed ID: 12204005
    [Abstract] [Full Text] [Related]

  • 24. [Genetics of Gaucher's disease. Genotype-phenotype correlation].
    Alfonso Palacín P, Pocoví M.
    Med Clin (Barc); 2011 Sep; 137 Suppl 1():17-22. PubMed ID: 22230121
    [Abstract] [Full Text] [Related]

  • 25. Differences in origin of the 1448C mutation in patients with Gaucher disease.
    Iwasawa K, Ida H, Eto Y.
    Acta Paediatr Jpn; 1997 Aug; 39(4):451-3. PubMed ID: 9316290
    [Abstract] [Full Text] [Related]

  • 26. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.
    Sobreira E, Pires RF, Cizmarik M, Grabowski GA.
    Mol Genet Metab; 2007 Jan; 90(1):81-6. PubMed ID: 16996765
    [Abstract] [Full Text] [Related]

  • 27. Gaucher disease: gene frequencies and genotype/phenotype correlations.
    Grabowski GA.
    Genet Test; 1997 Jan; 1(1):5-12. PubMed ID: 10464619
    [Abstract] [Full Text] [Related]

  • 28. Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.
    Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N, Chabás A, Vilageliu L, Grinberg D.
    Am J Med Genet; 1998 Dec 04; 80(4):343-51. PubMed ID: 9856561
    [Abstract] [Full Text] [Related]

  • 29.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 30. Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.
    Aharon-Peretz J, Badarny S, Rosenbaum H, Gershoni-Baruch R.
    Neurology; 2005 Nov 08; 65(9):1460-1. PubMed ID: 16148263
    [Abstract] [Full Text] [Related]

  • 31. 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 08; 26(4):307-11. PubMed ID: 11042032
    [Abstract] [Full Text] [Related]

  • 32.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 33. 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 08; 19(4):458-9. PubMed ID: 11933202
    [Abstract] [Full Text] [Related]

  • 34. 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 Apr 08; 27(5):882-91. PubMed ID: 11783951
    [Abstract] [Full Text] [Related]

  • 35. Gaucher disease: frequency of the N370S mutation in the Greek population.
    Dimitriou E, Moraitou M, Troungos C, Schulpis K, Michelakakis H.
    Clin Genet; 2010 Aug 08; 78(2):195-6. PubMed ID: 20662857
    [No Abstract] [Full Text] [Related]

  • 36. 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 08; 10(5):348-58. PubMed ID: 9375849
    [Abstract] [Full Text] [Related]

  • 37. Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.
    Lau EK, Tayebi N, Ingraham LJ, Winfield SL, Koprivica V, Stone DL, Zimran A, Ginns EI, Sidransky E.
    Hum Genet; 1999 Apr 08; 104(4):293-300. PubMed ID: 10369158
    [Abstract] [Full Text] [Related]

  • 38.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 39. A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.
    Choy FY, Humphries ML, Ben-Yoseph Y.
    Hum Mutat; 1998 Apr 08; 11(5):411-2. PubMed ID: 10206680
    [Abstract] [Full Text] [Related]

  • 40. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
    Hruska KS, LaMarca ME, Scott CR, Sidransky E.
    Hum Mutat; 2008 May 08; 29(5):567-83. PubMed ID: 18338393
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 8.