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   DNMT3Bbase
   Variation registry for  ICF syndrome


DNMT3Bbase mutation publications

[2005] [2002] [2000] [1999] [1998] [1988]

Search PubMed latest citations for DNMT3B mutations

    2005

  • DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.
    Jiang YL, Rigolet M, Bourc'his D, Nigon F, Bokesoy I, Fryns JP, Hultén M, Jonveaux P, Maraschio P, Mégarbané A, Moncla A, Viegas-Péquignot E
    Hum Mutat 2005(1): 56-63 [PubMed abstract].

    2002

  • Three novel DNMT3B mutations in Japanese patients with ICF syndrome.
    Shirohzu H, Kubota T, Kumazawa A, Sado T, Chijiwa T, Inagaki K, Suetake I, Tajima S, Wakui K, Miki Y, Hayashi M, Fukushima Y, Sasaki H
    Am J Med Genet 2002(1): 31-7 [PubMed abstract].

    2000

  • Genetic variation in ICF syndrome: evidence for genetic heterogeneity.
    Wijmenga C, Hansen RS, Gimelli G, Björck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL
    Hum Mutat 2000(6): 509-17 [PubMed abstract].

    1999

  • Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
    Xu GL, Bestor TH, Bourc'his D, Hsieh CL, Tommerup N, Bugge M, Hulten M, Qu X, Russo JJ, Viegas-Péquignot E
    Nature 1999(6758): 187-91 [PubMed abstract].

  • The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.
    Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CM, Gartler SM
    Proc Natl Acad Sci U S A 1999(25): 14412-7 [PubMed abstract].

    1998

  • Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.
    Wijmenga C, van den Heuvel LP, Strengman E, Luyten JA, van der Burgt IJ, de Groot R, Smeets DF, Draaisma JM, van Dongen JJ, De Abreu RA, Pearson PL, Sandkuijl LA, Weemaes CM
    Am J Hum Genet 1998(3): 803-9 [PubMed abstract].

    1988

  • Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16.
    Carpenter NJ, Filipovich A, Blaese RM, Carey TL, Berkel AI
    J Pediatr 1988(5): 757-60 [PubMed abstract].