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Journal Abstract Search

89 related items for PubMed ID: 3631130

  • 1. Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews.
    Matoth Y, Chazan S, Cnaan A, Gelernter I, Klibansky C.
    Am J Med Genet; 1987 Jul; 27(3):561-5. PubMed ID: 3631130
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  • 2. Gaucher disease: accurate identification of asymptomatic French-Canadian carrier using nonlabeled authentic sphingolipid substrate N-palmitoyl dihydroglucocerebroside.
    Choy FY, Bouillon L, Laurin CA.
    Am J Med Genet; 1987 Aug; 27(4):895-905. PubMed ID: 3425599
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  • 3. 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 Aug; 12(4):240-4. PubMed ID: 9744474
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  • 4. 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
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  • 5. Increased incidence of Parkinson disease among relatives of patients with Gaucher disease.
    Halperin A, Elstein D, Zimran A.
    Blood Cells Mol Dis; 2006 Apr; 36(3):426-8. PubMed ID: 16651014
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  • 6. [Frequency of the Gaucher mutation among recent Russian immigrants].
    Hodish I, Elstein D, Abrahamov A, Lonshakova N, Zimran A.
    Harefuah; 1995 Jun 15; 128(12):757-8, 824. PubMed ID: 7557682
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  • 13. Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients.
    Kolodny EH, Ullman MD, Mankin HJ, Raghavan SS, Topol J, Sullivan JL.
    Prog Clin Biol Res; 1982 Jun 15; 95():33-65. PubMed ID: 6289358
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  • 14. Assay of glucocerebrosidase using a fluorescent analogue of glucocerebroside for the diagnosis of Gaucher disease.
    Midorikawa M, Okada S, Yutaka T, Yabuuchi H, Naoi M, Kiuchi K, Yagi K.
    Biochem Int; 1985 Sep 15; 11(3):327-32. PubMed ID: 4062951
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  • 16. Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel.
    Broide E, Zeigler M, Eckstein J, Bach G.
    Am J Med Genet; 1993 Aug 15; 47(2):213-5. PubMed ID: 8213907
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  • 17. Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers.
    Michelin K, Wajner A, Bock H, Fachel A, Rosenberg R, Pires RF, Pereira ML, Giugliani R, Coelho JC.
    Clin Chim Acta; 2005 Dec 15; 362(1-2):101-9. PubMed ID: 16039637
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  • 18. 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 15; 26(4):348-59. PubMed ID: 11042036
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  • 19. 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
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  • 20. Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel.
    Peleg L, Pesso R, Goldman B, Dotan K, Omer M, Friedman E, Berkenstadt M, Reznik-Wolf H, Barkai G.
    Isr Med Assoc J; 2002 Feb 17; 4(2):95-7. PubMed ID: 11876000
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