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    Results: 7

    1.

    A patient with 9q subtelomeric deletion syndrome with additional findings.

    Tug E, Cavdarli B, Karaoguz MY, Percin FE.

    Genet Couns. 2012;23(4):465-71.

    PMID:
    23431745
    [PubMed - indexed for MEDLINE]
    2.

    Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.

    Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR.

    Hum Genet. 2012 Dec;131(12):1895-910. doi: 10.1007/s00439-012-1216-9. Epub 2012 Aug 14.

    PMID:
    22890305
    [PubMed - indexed for MEDLINE]
    3.

    Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

    Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H.

    Am J Hum Genet. 2012 Jul 13;91(1):73-82. doi: 10.1016/j.ajhg.2012.05.003. Epub 2012 Jun 21.

    PMID:
    22726846
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course.

    Verhoeven WM, Egger JI, Vermeulen K, van de Warrenburg BP, Kleefstra T.

    Am J Med Genet A. 2011 Oct;155A(10):2409-15. doi: 10.1002/ajmg.a.34186. Epub 2011 Sep 9.

    PMID:
    21910222
    [PubMed - indexed for MEDLINE]
    5.

    Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.

    Nillesen WM, Yntema HG, Moscarda M, Verbeek NE, Wilson LC, Cowan F, Schepens M, Raas-Rothschild A, Gafni-Weinstein O, Zollino M, Vijzelaar R, Neri G, Nelen M, Bokhoven Hv, Giltay J, Kleefstra T.

    Hum Mutat. 2011 Jul;32(7):853-9. doi: 10.1002/humu.21523.

    PMID:
    21538692
    [PubMed - indexed for MEDLINE]
    6.

    Epigenetic regulation of learning and memory by Drosophila EHMT/G9a.

    Kramer JM, Kochinke K, Oortveld MA, Marks H, Kramer D, de Jong EK, Asztalos Z, Westwood JT, Stunnenberg HG, Sokolowski MB, Keleman K, Zhou H, van Bokhoven H, Schenck A.

    PLoS Biol. 2011 Jan 4;9(1):e1000569. doi: 10.1371/journal.pbio.1000569.

    PMID:
    21245904
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.

    Willemsen MH, Beunders G, Callaghan M, de Leeuw N, Nillesen WM, Yntema HG, van Hagen JM, Nieuwint AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T.

    Clin Genet. 2011 Jul;80(1):31-8. doi: 10.1111/j.1399-0004.2010.01607.x. Epub 2011 Jan 10.

    PMID:
    21204793
    [PubMed - indexed for MEDLINE]

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