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Journal Abstract Search

295 related items for PubMed ID: 10464671

  • 1. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation.
    Roa BB, Savino CV, Richards CS.
    Genet Test; 1999; 3(2):219-21. PubMed ID: 10464671
    [Abstract] [Full Text] [Related]

  • 2. High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin.
    Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urtreger A, Groden J, Legum C.
    Genet Test; 1998; 2(4):293-6. PubMed ID: 10464606
    [Abstract] [Full Text] [Related]

  • 3. Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.
    Li L, Eng C, Desnick RJ, German J, Ellis NA.
    Mol Genet Metab; 1998 Aug; 64(4):286-90. PubMed ID: 9758720
    [Abstract] [Full Text] [Related]

  • 4. A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene.
    Straughen JE, Johnson J, McLaren D, Proytcheva M, Ellis N, German J, Groden J.
    Hum Mutat; 1998 Aug; 11(2):175-8. PubMed ID: 9482582
    [Abstract] [Full Text] [Related]

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  • 6. The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.
    Ellis NA, Ciocci S, Proytcheva M, Lennon D, Groden J, German J.
    Am J Hum Genet; 1998 Dec; 63(6):1685-93. PubMed ID: 9837821
    [Abstract] [Full Text] [Related]

  • 7. Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews.
    Oddoux C, Clayton CM, Nelson HR, Ostrer H.
    Am J Hum Genet; 1999 Apr; 64(4):1241-3. PubMed ID: 10090915
    [No Abstract] [Full Text] [Related]

  • 8. Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development.
    Koren-Michowitz M, Friedman E, Gershoni-Baruch R, Brok-Simoni F, Patael Y, Rechavi G, Amariglio N.
    Am J Hematol; 2005 Mar; 78(3):203-6. PubMed ID: 15726604
    [Abstract] [Full Text] [Related]

  • 9. Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome.
    Ellis NA, Roe AM, Kozloski J, Proytcheva M, Falk C, German J.
    Am J Hum Genet; 1994 Sep; 55(3):453-60. PubMed ID: 8079989
    [Abstract] [Full Text] [Related]

  • 10. Relatively common mutations of the Bloom syndrome gene in the Japanese population.
    Kaneko H, Isogai K, Fukao T, Matsui E, Kasahara K, Yachie A, Seki H, Koizumi S, Arai M, Utunomiya J, Miki Y, Kondo N.
    Int J Mol Med; 2004 Sep; 14(3):439-42. PubMed ID: 15289897
    [Abstract] [Full Text] [Related]

  • 11. Localization of cancer susceptibility genes by genome-wide single-nucleotide polymorphism linkage-disequilibrium mapping.
    Mitra N, Ye TZ, Smith A, Chuai S, Kirchhoff T, Peterlongo P, Nafa K, Phillips MS, Offit K, Ellis NA.
    Cancer Res; 2004 Nov 01; 64(21):8116-25. PubMed ID: 15520224
    [Abstract] [Full Text] [Related]

  • 12. Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome.
    Baris HN, Kedar I, Halpern GJ, Shohat T, Magal N, Ludman MD, Shohat M.
    Isr Med Assoc J; 2007 Dec 01; 9(12):847-50. PubMed ID: 18210922
    [Abstract] [Full Text] [Related]

  • 13. Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
    Fedick AM, Shi L, Jalas C, Treff NR, Ekstein J, Kornreich R, Edelmann L, Mehta L, Savage SA.
    Clin Genet; 2015 Aug 01; 88(2):177-81. PubMed ID: 25047097
    [Abstract] [Full Text] [Related]

  • 14. Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
    Fares F, Badarneh K, Abosaleh M, Harari-Shaham A, Diukman R, David M.
    Prenat Diagn; 2008 Mar 01; 28(3):236-41. PubMed ID: 18264947
    [Abstract] [Full Text] [Related]

  • 15. Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms.
    Zauber NP, Sabbath-Solitare M, Marotta S, Zauber AG, Foulkes W, Chan M, Turner F, Bishop DT.
    Cancer; 2005 Aug 15; 104(4):719-29. PubMed ID: 15959913
    [Abstract] [Full Text] [Related]

  • 16. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2.
    Roa BB, Boyd AA, Volcik K, Richards CS.
    Nat Genet; 1996 Oct 15; 14(2):185-7. PubMed ID: 8841191
    [Abstract] [Full Text] [Related]

  • 17. A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals.
    Berman DB, Costalas J, Schultz DC, Grana G, Daly M, Godwin AK.
    Cancer Res; 1996 Aug 01; 56(15):3409-14. PubMed ID: 8758903
    [Abstract] [Full Text] [Related]

  • 18. The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population.
    Whitney MA, Jakobs P, Kaback M, Moses RE, Grompe M.
    Hum Mutat; 1994 Aug 01; 3(4):339-41. PubMed ID: 8081385
    [Abstract] [Full Text] [Related]

  • 19. Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
    Rabin R, Hirsch Y, Johansson MM, Ekstein J, Zeevi DA, Keena B, Zackai EH, Pappas J.
    Am J Med Genet A; 2019 Oct 01; 179(10):2144-2151. PubMed ID: 31287223
    [Abstract] [Full Text] [Related]

  • 20. Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.
    Kaneko H, Kondo N.
    Expert Rev Mol Diagn; 2004 May 01; 4(3):393-401. PubMed ID: 15137905
    [Abstract] [Full Text] [Related]

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