ID-bases-logo
 - databases for immunodeficiency-causing variations

   BLMbase
   Variation registry for  Bloom syndrome


BLMbase mutation publications

[2008] [2007] [2004] [2000] [1998] [1997] [1996] [1995]

Search PubMed latest citations for BLM mutations

    2008

  • Three new BLM gene mutations associated with Bloom syndrome.
    Amor-Guéret M, Dubois-d'Enghien C, Laugé A, Onclercq-Delic R, Barakat A, Chadli E, Bousfiha AA, Benjelloun M, Flori E, Doray B, Laugel V, Lourenço MT, Gonçalves R, Sousa S, Couturier J, Stoppa-Lyonnet D
    Genet Test 2008(2): 257-61 [PubMed abstract].

    2007

  • Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
    German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA
    Hum Mutat 2007(8): 743-53 [PubMed abstract].

    2004

  • 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(3): 439-42 [PubMed abstract].

    2000

  • Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.
    Barakat A, Ababou M, Onclercq R, Dutertre S, Chadli E, Hda N, Benslimane A, Amor-Guéret M
    Hum Mutat 2000(6): 584-5 [PubMed abstract].

    1998

  • The coding region of the Bloom syndrome BLM gene and of the CBL proto-oncogene is mutated in genetically unstable sporadic gastrointestinal tumors.
    Calin G, Herlea V, Barbanti-Brodano G, Negrini M
    Cancer Res 1998(17): 3777-81 [PubMed abstract].

    1997

  • Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.
    Foucault F, Vaury C, Barakat A, Thibout D, Planchon P, Jaulin C, Praz F, Amor-Guéret M
    Hum Mol Genet 1997(9): 1427-34 [PubMed abstract].

  • Bloom's syndrome. XX. The first 100 cancers.
    German J
    Cancer Genet Cytogenet 1997(1): 100-6 [PubMed abstract].

    1996

  • Microsatellite instability in B-cell lymphoma originating from Bloom syndrome.
    Kaneko H, Inoue R, Yamada Y, Sukegawa K, Fukao T, Tashita H, Teramoto T, Kasahara K, Takami T, Kondo N
    Int J Cancer 1996(6): 480-3 [PubMed abstract].

    1995

  • The Bloom's syndrome gene product is homologous to RecQ helicases.
    Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J
    Cell 1995(4): 655-66 [PubMed abstract].