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167 related items for PubMed ID: 10677327

  • 1. 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
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  • 2. 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
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  • 3. 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; 64(4):1233-8. PubMed ID: 10090913
    [No Abstract] [Full Text] [Related]

  • 4. The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin.
    Peretz H, Mulai A, Usher S, Zivelin A, Segal A, Weisman Z, Mittelman M, Lupo H, Lanir N, Brenner B, Shpilberg O, Seligsohn U.
    Blood; 1997 Oct 01; 90(7):2654-9. PubMed ID: 9326232
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  • 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 Oct 01; 27(5):950-9. PubMed ID: 11783960
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  • 6. One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews.
    Shpilberg O, Peretz H, Zivelin A, Yatuv R, Chetrit A, Kulka T, Stern C, Weiss E, Seligsohn U.
    Blood; 1995 Jan 15; 85(2):429-32. PubMed ID: 7811996
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  • 7. Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews.
    Goldstein DB, Reich DE, Bradman N, Usher S, Seligsohn U, Peretz H.
    Am J Hum Genet; 1999 Apr 15; 64(4):1071-5. PubMed ID: 10090892
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  • 11. 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 15; 12(4):240-4. PubMed ID: 9744474
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  • 12. [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 15; 26(3):434-41. PubMed ID: 17176007
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  • 14. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.
    Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E.
    Am J Hum Genet; 1991 Oct 15; 49(4):855-9. PubMed ID: 1897529
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  • 15. 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 15; 104(4):293-300. PubMed ID: 10369158
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  • 16. Mendelian diseases among Roman Jews: implications for the origins of disease alleles.
    Oddoux C, Guillen-Navarro E, Ditivoli C, Dicave E, Cilio MR, Clayton CM, Nelson H, Sarafoglou K, McCain N, Peretz H, Seligsohn U, Luzzatto L, Nafa K, Nardi M, Karpatkin M, Aksentijevich I, Kastner D, Axelrod F, Ostrer H.
    J Clin Endocrinol Metab; 1999 Dec 15; 84(12):4405-9. PubMed ID: 10599695
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  • 17. The I1307K APC polymorphism: prevalence in non-Ashkenazi Jews and evidence for a founder effect.
    Shtoyerman-Chen R, Friedman E, Figer A, Carmel M, Patael Y, Rath P, Fidder HH, Bar-Meir S, Theodor L.
    Genet Test; 2001 Dec 15; 5(2):141-6. PubMed ID: 11551102
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  • 18. 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 15; 45(6):298-300. PubMed ID: 7923859
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  • 19. Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews.
    Peretz H, Salomon O, Mor-Cohen R, Usher S, Zucker M, Zivelin A, Seligsohn U.
    J Thromb Haemost; 2013 Apr 15; 11(4):724-30. PubMed ID: 23332144
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  • 20. Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.
    Laitman Y, Feng BJ, Zamir IM, Weitzel JN, Duncan P, Port D, Thirthagiri E, Teo SH, Evans G, Latif A, Newman WG, Gershoni-Baruch R, Zidan J, Shimon-Paluch S, Goldgar D, Friedman E.
    Eur J Hum Genet; 2013 Feb 15; 21(2):212-6. PubMed ID: 22763381
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