Works matching DE "MELORHEOSTOSIS"


Results: 35
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    Melorheostosis: presentation of a clinical case.

    Published in:
    Journal of Osteoporosis & Mineral Metabolism / Revista de Osteoporosis y Metabolismo Mineral (English edition), 2015, v. 7, n. 1, p. 11
    By:
    • Suárez Bordón, S.;
    • González González, Y.;
    • Santana Borbones, M.;
    • Herrera Henríquez, J.;
    • Hernández Hernández, D.;
    • Sosa Henríquez, M.
    Publication type:
    Article
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    Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

    Published in:
    Nature Genetics, 2004, v. 36, n. 11, p. 1213, doi. 10.1038/ng1453
    By:
    • Hellemans, Jan;
    • Preobrazhenska, Olena;
    • Willaert, Andy;
    • Debeer, Philippe;
    • Verdonk, Peter C. M;
    • Costa, Teresa;
    • Janssens, Katrien;
    • Menten, Bjorn;
    • Roy, Nadine Van;
    • Vermeulen, Stefan J. T.;
    • Savarirayan, Ravi;
    • Hul, Wim Van;
    • Vanhoenacker, Filip;
    • Huylebroeck, Danny;
    • Paepe, Anne De;
    • Naeyaert, Jean-Marie;
    • Vandesompele, Jo;
    • Speleman, Frank;
    • Verschueren, Kristin;
    • Coucke, Paul J.
    Publication type:
    Article
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    Somatic activating mutations in MAP2K1 cause melorheostosis.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03720-z
    By:
    • Kang, Heeseog;
    • Marini, Joan C.;
    • Cabral, Wayne A.;
    • Cowen, Edward W.;
    • Bhattacharyya, Timothy;
    • Jha, Smita;
    • Zuoming Deng;
    • Fratzl-Zelman, Nadja;
    • Roschger, Paul;
    • Klaushofer, Klaus;
    • Ivovic, Aleksandra;
    • Meylan, Françoise;
    • Siegel, Richard M.;
    • Hanson, Eric P.;
    • Lange, Eileen;
    • Katz, James
    Publication type:
    Article
    15

    Melorheostosis: A Rare Disease.

    Published in:
    Journal of Physical Medicine & Rehabilitation Sciences, 2018, v. 21, n. 3, p. 147, doi. 10.31609/jpmrs.2017-54934
    By:
    • ÇİLİNGİROĞLU, Çiğdem;
    • BİLGİLİSOY FİLİZ, Meral;
    • SEZER, İlhan
    Publication type:
    Article
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    Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.

    Published in:
    Journal of Bone & Mineral Research, 2019, v. 34, n. 1, p. 145, doi. 10.1002/jbmr.3577
    By:
    • Jha, Smita;
    • Fratzl‐Zelman, Nadja;
    • Roschger, Paul;
    • Papadakis, Georgios Z;
    • Cowen, Edward W;
    • Kang, Heeseog;
    • Lehky, Tanya J;
    • Alter, Katharine;
    • Deng, Zuoming;
    • Ivovic, Aleksandra;
    • Flynn, Lauren;
    • Reynolds, James C;
    • Dasgupta, Abhijit;
    • Miettinen, Markku;
    • Lange, Eileen;
    • Katz, James;
    • Klaushofer, Klaus;
    • Marini, Joan C;
    • Siegel, Richard M;
    • Bhattacharyya, Timothy
    Publication type:
    Article
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    Melorheostosis: Two atypical cases.

    Published in:
    Indian Journal of Radiology & Imaging, 2014, v. 24, n. 2, p. 192, doi. 10.4103/0971-3026.134415
    By:
    • Sureka, Binit;
    • Mittal, Mahesh Kumar;
    • Udhaya, K. K.;
    • Sinha, Mukul;
    • Mittal, Aliza;
    • Thukral, Brij Bhushan
    Publication type:
    Article
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    Melorheostosis and Osteopoikilosis.

    Published in:
    Applied Radiology, 2023, v. 52, n. 3, p. 46, doi. 10.37549/ar2896
    By:
    • Popa, Carmen;
    • Moisin, Andrei-Catalin;
    • Tanasescu, Ciprian;
    • Tanasescu, Denisa;
    • Racheriu, Mihaela
    Publication type:
    Article
    30

    Osteopoikilosis.

    Published in:
    Applied Radiology, 2019, v. 48, n. 2, p. 40, doi. 10.37549/ar2570
    By:
    • Wallace, Stephen;
    • Towbin, Richard B.;
    • Towbin, Alexander J.
    Publication type:
    Article
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    Melorheostosis.

    Published in:
    2015
    By:
    • Vianna Franca, Paulo Marcus;
    • Sérgio Ferrreira, Cid;
    • Figueiredo, Reginaldo;
    • Kawaoka Matushita, João Paulo
    Publication type:
    Letter to the Editor