Works matching Congenital hypothyroidism and genetics


Results: 102
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    Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant.

    Published in:
    Clinical Endocrinology, 2007, v. 67, n. 1, p. 34, doi. 10.1111/j.1365-2265.2007.02831.x
    By:
    • Tonacchera, Massimo;
    • Banco, Maria Elena;
    • Montanelli, Lucia;
    • Di Cosmo, Caterina;
    • Agretti, Patrizia;
    • De Marco, Giuseppina;
    • Ferrarini, Eleonora;
    • Ordookhani, Arash;
    • Perri, Anna;
    • Chiovato, Luca;
    • Santini, Ferruccio;
    • Vitti, Paolo;
    • Pinchera, Aldo
    Publication type:
    Article
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    New genetics in congenital hypothyroidism.

    Published in:
    Endocrine (1355008X), 2021, v. 71, n. 3, p. 696, doi. 10.1007/s12020-021-02646-9
    By:
    • Stoupa, Athanasia;
    • Kariyawasam, Dulanjalee;
    • Muzza, Marina;
    • de Filippis, Tiziana;
    • Fugazzola, Laura;
    • Polak, Michel;
    • Persani, Luca;
    • Carré, Aurore
    Publication type:
    Article
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    Génétique de l'hypothyroïdie congénitale.

    Published in:
    Médecine Sciences, 2022, v. 38, n. 3, p. 263, doi. 10.1051/medsci/2022028
    By:
    • Stoupa, Athanasia;
    • Kariyawasam, Dulanjalee;
    • Polak, Michel;
    • Carré, Aurore
    Publication type:
    Article
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    Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.

    Published in:
    Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14161-6
    By:
    • Narita, Kotaro;
    • Muramatsu, Hideki;
    • Narumi, Satoshi;
    • Nakamura, Yuji;
    • Okuno, Yusuke;
    • Suzuki, Kyogo;
    • Hamada, Motoharu;
    • Yamaguchi, Naoya;
    • Suzuki, Atsushi;
    • Nishio, Yosuke;
    • Shiraki, Anna;
    • Yamamori, Ayako;
    • Tsumura, Yusuke;
    • Sawamura, Fumi;
    • Kawaguchi, Masahiro;
    • Wakamatsu, Manabu;
    • Kataoka, Shinsuke;
    • Kato, Kohji;
    • Asada, Hideyuki;
    • Kubota, Tetsuo
    Publication type:
    Article
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