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

   DKC1base
   Variation registry for  Hoyeraal-Hreidarsson syndrome


DKC1base mutation publications

[2009] [2008] [2003] [2002] [2000] [1999]

Search PubMed latest citations for DKC1 mutations

    2009

  • Identification of a novel mutation in DKC1 in dyskeratosis congenita.
    Kurnikova M, Shagina I, Khachatryan L, Schagina O, Maschan M, Shagin D
    Pediatr Blood Cancer 2009(1): 135-7 [PubMed abstract].

    2008

  • X-linked dyskeratosis congenita in Malaysia.
    Hamidah A, Rashid RA, Jamal R, Zhao M, Kanegane H
    Pediatr Blood Cancer 2008(2): 432 [PubMed abstract].

  • An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.
    Pearson T, Curtis F, Al-Eyadhy A, Al-Tamemi S, Mazer B, Dror Y, Abish S, Bale S, Compton J, Ray R, Scott P, Der Kaloustian VM
    Am J Med Genet A 2008(16): 2159-61 [PubMed abstract].

    2003

  • Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).
    Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Blouin P, Segura JF, Cezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A
    Eur J Pediatr 2003(12): 863-7 [PubMed abstract].

  • Expansion of clonotype-restricted HLA-identical maternal CD4+ T cells in a patient with severe combined immunodeficiency and a homozygous mutation in the Artemis gene.
    Kobayashi N, Agematsu K, Nagumo H, Yasui K, Katsuyama Y, Yoshizawa K, Ota M, Yachie A, Komiyama A
    Clin Immunol 2003(2): 159-66 [PubMed abstract].

    2002

  • A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.
    Cossu F, Vulliamy TJ, Marrone A, Badiali M, Cao A, Dokal I
    Br J Haematol 2002(3): 765-8 [PubMed abstract].

    2000

  • Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.
    Yaghmai R, Kimyai-Asadi A, Rostamiani K, Heiss NS, Poustka A, Eyaid W, Bodurtha J, Nousari HC, Hamosh A, Metzenberg A
    J Pediatr 2000(3): 390-3 [PubMed abstract].

    1999

  • Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.
    Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, Jones A, Hennekam RC, Poustka A, Mason PJ, Dokal I
    Br J Haematol 1999(2): 335-9 [PubMed abstract].