タイトル厚生労働科学研究費補助金（難治性疾患克服研究事業）「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書

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厚生労働科学研究費補助金（難治性疾患克服研究事業）「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書

発表者氏名論文タイトル名発表誌名巻号ページ出版年Hannibal MC, Buckingham Spectrum of MLL2 (ALR)KJ, Ng SB, Ming JE, Beck AE, mutations in 110 cases ofMcMillin MJ, Gildersleeve HI, Kabuki syndrome.Bigham AW, Tabor HK,Mefford HC, Cook J, YoshiuraK, Matsumoto T, MatsumotoN,Miyake N, Tonoki H,Naritomi K, Kaname T,Nagai T, OhashiH, KurosawaK, Hou JW, Ohta T, Liang D,Sudo A, Morris CA, Banka S,Black GC, Clayton-SmithJ,Nickerson DA, Zackai EH,Shaikh TH, Donnai D,Nishikawa N, Shendure J,Bamshad MJ.Am J MedGenet A.155(7) 1511-1516 2011Takagi M, Hori N, ChinenY, Kurosawa K, Tanaka Y,Oku K, Sakata H,Fukuzawa R, Nishimura G,Spranger J, Hasegawa T,Heterozygous C-propeptide Am J Medmutations in COL1A1: osteog Genet A.enesis imperfecta typeIIC and dense bone variant.155(9) 2269-2273 2011Miyake N, Yamashita S,Kurosawa K, Miyatake S,Tsurusaki Y, Doi H, Saitsu H,Matsumoto N.A novel homozygous mutationof DARS2 may cause a severeLBSL variant.Clin Genet. 80(3) 293-296 2011Niihori T, Aoki Y, Okamoto N,Kurosawa K, Ohashi H,Mizuno S, Kawame H,Inazawa J, Ohura T, Arai H,Nabatame S, Kikuchi K,Kuroki Y, Miura M, Tanaka T,Ohtake A, Omori I, Ihara K,Mabe H, Watanabe K, NiijimaS, Okano E, Numabe H,Matsubara Y.HRAS mutants identified inCostello syndrome patients caninduce cellular senescence:possible implications for thepathogenesis of Costellosyndrome.J Hum Genet.56(10) 707-15 2011Saito Y, Kubota M, KurosawaK, Ichihashi I, Kaneko Y,Hattoti A, Komaki H,Nakagawa E, Sugai K, SasakiM.Polymicrogyria and infantilespasms in a patient with 1p36 deletion syndrome.Brain Dev. 33(5) 437-441 2011Yamamoto T, Tanaka H,Matsumoto K, Lee T, AwanoH, Yagi M, Imanishi T,Hayashi N, Takeshima Y,Kawai H, Kawano S, HirataKI.Utility of TransmuralMyocardial Strain Profile forPrediction of Early LeftVentricular Dysfunction inPatients With DuchenneMuscular Dystrophy.Am J Cardiol. 902-7 111(6) 201343