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    Results: 15

    1.

    Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis.

    Niida Y, Kuroda M, Mitani Y, Okumura A, Yokoi A.

    Mol Genet Metab. 2012 Nov;107(3):580-5. doi: 10.1016/j.ymgme.2012.09.008. Epub 2012 Sep 10.

    PMID:
    23022073
    [PubMed - indexed for MEDLINE]

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    2.

    Stimulus-induced drop episodes in Coffin-Lowry syndrome.

    Hahn JS, Hanauer A.

    Eur J Med Genet. 2012 May;55(5):335-7. doi: 10.1016/j.ejmg.2012.03.004. Epub 2012 Mar 21. Review.

    PMID:
    22490425
    [PubMed - indexed for MEDLINE]

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    3.

    Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.

    Martinez HR, Niu MC, Sutton VR, Pignatelli R, Vatta M, Jefferies JL.

    Am J Med Genet A. 2011 Dec;155A(12):3030-4. doi: 10.1002/ajmg.a.33856. Epub 2011 Oct 18.

    PMID:
    22009732
    [PubMed - indexed for MEDLINE]

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    4.

    Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report.

    Norderyd J, Aronsson J.

    Int J Paediatr Dent. 2012 Mar;22(2):154-6. doi: 10.1111/j.1365-263X.2011.01160.x. Epub 2011 Jul 22.

    PMID:
    21781198
    [PubMed - indexed for MEDLINE]

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    5.

    A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.

    Senel S, Ceylaner S, Ceylaner G, Sahin AH, Andrieux J, Delaunoy JP.

    Genet Couns. 2011;22(1):21-4.

    PMID:
    21614984
    [PubMed - indexed for MEDLINE]

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    6.

    Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome.

    Mehmood T, Schneider A, Sibille J, Marques Pereira P, Pannetier S, Ammar MR, Dembele D, Thibault-Carpentier C, Rouach N, Hanauer A.

    Hum Genet. 2011 Mar;129(3):255-69. doi: 10.1007/s00439-010-0918-0. Epub 2010 Nov 30. Erratum in: Hum Genet. 2011 Mar;129(3):271. Sibillec, Jérémie [corrected to Sibille, Jérémie].

    PMID:
    21116650
    [PubMed - indexed for MEDLINE]

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    7.

    The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion.

    Zeniou-Meyer M, Gambino F, Ammar MR, Humeau Y, Vitale N.

    Cell Mol Neurobiol. 2010 Nov;30(8):1401-6. doi: 10.1007/s10571-010-9578-9. Review.

    PMID:
    21061166
    [PubMed - indexed for MEDLINE]

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    8.

    Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis.

    Dugani CB, Paquin A, Kaplan DR, Miller FD.

    Dev Biol. 2010 Nov 15;347(2):348-59. doi: 10.1016/j.ydbio.2010.08.035. Epub 2010 Sep 8.

    PMID:
    20832397
    [PubMed - indexed for MEDLINE]

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    9.

    The Coffin-Lowry syndrome: a case report and review of the literature.

    Lange IR, Stone P, Aftimos S.

    J Obstet Gynaecol Can. 2010 Jul;32(7):691-4. Review.

    PMID:
    20707959
    [PubMed - indexed for MEDLINE]

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    10.

    Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

    Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M.

    Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. doi: 10.1016/j.ejmg.2010.07.006. Epub 2010 Jul 15.

    PMID:
    20637903
    [PubMed - indexed for MEDLINE]

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    11.

    Ras and Rap signaling in synaptic plasticity and mental disorders.

    Stornetta RL, Zhu JJ.

    Neuroscientist. 2011 Feb;17(1):54-78. doi: 10.1177/1073858410365562. Epub 2010 Apr 29. Review.

    PMID:
    20431046
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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    12.

    A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome.

    Horbelt CV, Aubertin MA.

    Gen Dent. 2009 Sep-Oct;57(5):468-71. Review. No abstract available.

    PMID:
    19903636
    [PubMed - indexed for MEDLINE]

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    13.

    Coffin-Lowry syndrome.

    Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A.

    Eur J Hum Genet. 2010 Jun;18(6):627-33. doi: 10.1038/ejhg.2009.189. Epub 2009 Nov 4. Review.

    PMID:
    19888300
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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    14.

    Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies.

    Urdinguio RG, Sanchez-Mut JV, Esteller M.

    Lancet Neurol. 2009 Nov;8(11):1056-72. doi: 10.1016/S1474-4422(09)70262-5. Review.

    PMID:
    19833297
    [PubMed - indexed for MEDLINE]

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    15.

    P90 Ribosomal s6 kinase 2 negatively regulates axon growth in motoneurons.

    Fischer M, Pereira PM, Holtmann B, Simon CM, Hanauer A, Heisenberg M, Sendtner M.

    Mol Cell Neurosci. 2009 Oct;42(2):134-41. doi: 10.1016/j.mcn.2009.06.006. Epub 2009 Jun 22.

    PMID:
    19555761
    [PubMed - indexed for MEDLINE]

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