Works matching X chromosome inactivation


Results: 1690
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    Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

    Published in:
    Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 82, doi. 10.1186/1750-1172-7-82
    By:
    • Juan-Mateu, Jonàs;
    • Rodríguez, Maria José;
    • Nascimento, Andrés;
    • Jiménez-Mallebrera, Celilia;
    • González-Quereda, Lidia;
    • Rivas, Eloy;
    • Paradas, Carmen;
    • Madruga, Marcos;
    • Sánchez-Ayaso, Pedro;
    • Jou, Cristina;
    • González-Mera, Jorge;
    • Munell, Francina;
    • Roig-Quilis, Manuel;
    • Rabasa, Maria;
    • Hernández-Lain, Aurelio;
    • Díaz-Manera, Jorge;
    • Gallardo, Eduard;
    • Pascual, Jordi;
    • Verdura, Edgard;
    • Colomer, Jaume
    Publication type:
    Article
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    X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.

    Published in:
    Clinical & Experimental Nephrology, 2021, v. 25, n. 11, p. 1224, doi. 10.1007/s10157-021-02099-4
    By:
    • Rossanti, Rini;
    • Nozu, Kandai;
    • Fukunaga, Atsushi;
    • Nagano, China;
    • Horinouchi, Tomoko;
    • Yamamura, Tomohiko;
    • Sakakibara, Nana;
    • Minamikawa, Shogo;
    • Ishiko, Shinya;
    • Aoto, Yuya;
    • Okada, Eri;
    • Ninchoji, Takeshi;
    • Kato, Noritoshi;
    • Maruyama, Shoichi;
    • Kono, Keiji;
    • Nishi, Shinichi;
    • Iijima, Kazumoto;
    • Fujii, Hideki
    Publication type:
    Article
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    Combined De-Novo Mutation and Non-Random X-Chromosome Inactivation Causing Wiskott-Aldrich Syndrome in a Female with Thrombocytopenia.

    Published in:
    Journal of Clinical Immunology, 2013, v. 33, n. 7, p. 1150, doi. 10.1007/s10875-013-9927-9
    By:
    • Boonyawat, Boonchai;
    • Dhanraj, Santhosh;
    • Abbas, Fahad;
    • Zlateska, Bozana;
    • Grunenbaum, Eyal;
    • Roifman, Chaim;
    • Steele, Leslie;
    • Meyn, Stephen;
    • Blanchette, Victor;
    • Scherer, Stephen;
    • Swierczek, Sabina;
    • Prchal, Josef;
    • Zhu, Qili;
    • Torgerson, Troy;
    • Ochs, Hans;
    • Dror, Yigal
    Publication type:
    Article
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