Works matching DE "CARTILAGE diseases"

Results: 1245
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    Smoc1 and Smoc2 regulate bone formation as downstream molecules of Runx2.

    Published in:
    Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02717-7
    By:
    • Takahata, Yoshifumi;
    • Hagino, Hiromasa;
    • Kimura, Ayaka;
    • Urushizaki, Mitsuki;
    • Kobayashi, Sachi;
    • Wakamori, Kanta;
    • Fujiwara, Chika;
    • Nakamura, Eriko;
    • Yu, Kayon;
    • Kiyonari, Hiroshi;
    • Bando, Kana;
    • Murakami, Tomohiko;
    • Komori, Toshihisa;
    • Hata, Kenji;
    • Nishimura, Riko
    Publication type:
    Article
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    MicroRNA Profiling in Cartilage Ageing.

    Published in:
    International Journal of Genomics, 2017, p. 1, doi. 10.1155/2017/2713725
    By:
    • Balaskas, Panagiotis;
    • Goljanek-Whysall, Katarzyna;
    • Clegg, Peter;
    • Fang, Yongxiang;
    • Cremers, Andy;
    • Emans, Pieter;
    • Welting, Tim;
    • Peffers, Mandy
    Publication type:
    Article
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    Conradi-Hünermann syndrome with ocular anomalies.

    Published in:
    Ophthalmic Genetics, 1999, v. 20, n. 4, p. 271, doi. 10.1076/opge.20.4.271.2274
    By:
    • Tanaka, Yoko;
    • Saitoh, Akira;
    • Taniguchi, Hiroyasu;
    • Oba, Keisuke;
    • Kitaoka, Takashi;
    • Amemiya, Tsugio
    Publication type:
    Article
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    CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75
    By:
    • Van Dijk, Fleur S.;
    • Nesbitt, Isabel M.;
    • Nikkels, Peter G. J.;
    • Dalton, Ann;
    • Bongers, Ernie M. H. F.;
    • van de Kamp, Jiddeke M.;
    • Hilhorst-Hofstee, Yvonne;
    • Den Hollander, Nicolette S.;
    • Lachmeijer, Augusta M. A.;
    • Marcelis, Carlo L.;
    • Tan-Sindhunata, Gita M. B.;
    • van Rijn, Rick R.;
    • Meijers-Heijboer, Hanne;
    • Cobben, Jan M.;
    • Pals, Gerard
    Publication type:
    Article
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    PÓŹNE ROZPOZNANIE ZESPOŁU MARFANA.

    Published in:
    2011
    By:
    • Ziora, Katarzyna;
    • Wierzyk, Arkadiusz;
    • Wszołek, Magdalena;
    • Smerdziński, Sebastian;
    • Ziora-Jakutowicz, Karolina;
    • Zajączek, Stanisław
    Publication type:
    Case Study
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    Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.

    Published in:
    Nature Genetics, 2013, v. 45, n. 8, p. 923, doi. 10.1038/ng.2668
    By:
    • Tarpey, Patrick S;
    • Behjati, Sam;
    • Cooke, Susanna L;
    • Van Loo, Peter;
    • Wedge, David C;
    • Pillay, Nischalan;
    • Marshall, John;
    • O'Meara, Sarah;
    • Davies, Helen;
    • Nik-Zainal, Serena;
    • Beare, David;
    • Butler, Adam;
    • Gamble, John;
    • Hardy, Claire;
    • Hinton, Jonathon;
    • Jia, Ming Ming;
    • Jayakumar, Alagu;
    • Jones, David;
    • Latimer, Calli;
    • Maddison, Mark
    Publication type:
    Article
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    Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

    Published in:
    Nature Genetics, 2011, v. 43, n. 12, p. 1262, doi. 10.1038/ng.994
    By:
    • Amary, M Fernanda;
    • Damato, Stephen;
    • Halai, Dina;
    • Eskandarpour, Malihe;
    • Berisha, Fitim;
    • Bonar, Fiona;
    • McCarthy, Stan;
    • Fantin, Valeria R;
    • Straley, Kimberly S;
    • Lobo, Samira;
    • Aston, Will;
    • Green, Claire L;
    • Gale, Rosemary E;
    • Tirabosco, Roberto;
    • Futreal, Andrew;
    • Campbell, Peter;
    • Presneau, Nadège;
    • Flanagan, Adrienne M
    Publication type:
    Article
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