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- databases for immunodeficiency-causing variations

   MRE11Abase
   Variation registry for  Ataxia-telangiectasia-like disorder (ATLD)


MRE11Abase mutation publications

[2009] [2005] [2004] [2001] [1999] [1993]

Search PubMed latest citations for MRE11A mutations

    2009

  • Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma.
    Uchisaka N, Takahashi N, Sato M, Kikuchi A, Mochizuki S, Imai K, Nonoyama S, Ohara O, Watanabe F, Mizutani S, Hanada R, Morio T
    J Pediatr 2009(3): 435-8 [PubMed abstract].

    2005

  • Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.
    Fernet M, Gribaa M, Salih MA, Seidahmed MZ, Hall J, Koenig M
    Hum Mol Genet 2005(2): 307-18 [PubMed abstract].

    2004

  • MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
    Delia D, Piane M, Buscemi G, Savio C, Palmeri S, Lulli P, Carlessi L, Fontanella E, Chessa L
    Hum Mol Genet 2004(18): 2155-63 [PubMed abstract].

    2001

  • hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.
    Pitts SA, Kullar HS, Stankovic T, Stewart GS, Last JI, Bedenham T, Armstrong SJ, Piane M, Chessa L, Taylor AM, Byrd PJ
    Hum Mol Genet 2001(11): 1155-62 [PubMed abstract].

    1999

  • The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
    Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, Jaspers NG, Raams A, Byrd PJ, Petrini JH, Taylor AM
    Cell 1999(6): 577-87 [PubMed abstract].

    1993

  • A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.
    Hernandez D, McConville CM, Stacey M, Woods CG, Brown MM, Shutt P, Rysiecki G, Taylor AM
    J Med Genet 1993(2): 135-40 [PubMed abstract].