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Journal Abstract Search

311 related items for PubMed ID: 10777718

  • 1. 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; 66(6):1821-32. PubMed ID: 10777718
    [Abstract] [Full Text] [Related]

  • 2. 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; 66(2):692-7. PubMed ID: 10677327
    [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
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  • 4. 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]

  • 5. 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 Apr 07; 27(5):950-9. PubMed ID: 11783960
    [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 Apr 07; 12(4):240-4. PubMed ID: 9744474
    [Abstract] [Full Text] [Related]

  • 7. Gaucher disease: gene frequencies and genotype/phenotype correlations.
    Grabowski GA.
    Genet Test; 1997 Apr 07; 1(1):5-12. PubMed ID: 10464619
    [Abstract] [Full Text] [Related]

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

  • 10. 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 07; 104(4):293-300. PubMed ID: 10369158
    [Abstract] [Full Text] [Related]

  • 11. Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
    Zeevi DA, Altarescu G, Weinberg-Shukron A, Zahdeh F, Dinur T, Chicco G, Herskovitz Y, Renbaum P, Elstein D, Levy-Lahad E, Rolfs A, Zimran A.
    J Clin Invest; 2015 Oct 01; 125(10):3757-65. PubMed ID: 26426075
    [Abstract] [Full Text] [Related]

  • 12. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.
    Durst R, Colombo R, Shpitzen S, Avi LB, Friedlander Y, Wexler R, Raal FJ, Marais DA, Defesche JC, Mandelshtam MY, Kotze MJ, Leitersdorf E, Meiner V.
    Am J Hum Genet; 2001 May 01; 68(5):1172-88. PubMed ID: 11309683
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 01; 23(3):415-6. PubMed ID: 9446756
    [Abstract] [Full Text] [Related]

  • 15. [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 Dec 01; 41(4):41-7. PubMed ID: 18030725
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  • 17. Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations.
    Valente EM, Povey S, Warner TT, Wood NW, Davis MB.
    Ann Hum Genet; 1999 Jan 01; 63(Pt 1):1-8. PubMed ID: 10738516
    [Abstract] [Full Text] [Related]

  • 18. Children with type 1 Gaucher disease: Changing profiles in the 21st century.
    Elstein D, Altarescu G, Abrahamov A, Zimran A.
    Blood Cells Mol Dis; 2018 Feb 01; 68():93-96. PubMed ID: 28185830
    [Abstract] [Full Text] [Related]

  • 19. Age at Onset of Parkinson's Disease Among Ashkenazi Jewish Patients: Contribution of Environmental Factors, LRRK2 p.G2019S and GBA p.N370S Mutations.
    Yahalom G, Rigbi A, Israeli-Korn S, Krohn L, Rudakou U, Ruskey JA, Benshimol L, Tsafnat T, Gan-Or Z, Hassin-Baer S, Greenbaum L.
    J Parkinsons Dis; 2020 Feb 01; 10(3):1123-1132. PubMed ID: 32310186
    [Abstract] [Full Text] [Related]

  • 20. 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 Feb 01; 11(2):63-71. PubMed ID: 9608355
    [Abstract] [Full Text] [Related]

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