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Benign nonfunctioning thyroid adenomas are characterized by a defective targeting to cell membrane or a reduced expression of the sodium iodide symporter protein.
Tonacchera M, Viacava P, Agretti P, de Marco G, Perri A, di Cosmo C, de Servi M, Miccoli P, Lippi F, Naccarato AG, Pinchera A, Chiovato L, Vitti P. Tonacchera M, et al. Among authors: di cosmo c. J Clin Endocrinol Metab. 2002 Jan;87(1):352-7. doi: 10.1210/jcem.87.1.8173. J Clin Endocrinol Metab. 2002. PMID: 11788674
Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant.
Tonacchera M, Banco ME, Montanelli L, Di Cosmo C, Agretti P, De Marco G, Ferrarini E, Ordookhani A, Perri A, Chiovato L, Santini F, Vitti P, Pinchera A. Tonacchera M, et al. Among authors: di cosmo c. Clin Endocrinol (Oxf). 2007 Jul;67(1):34-40. doi: 10.1111/j.1365-2265.2007.02831.x. Epub 2007 Apr 15. Clin Endocrinol (Oxf). 2007. PMID: 17437516
Identification of TSH receptor mutations in three families with resistance to TSH.
Tonacchera M, Di Cosmo C, De Marco G, Agretti P, Banco M, Perri A, Gianetti E, Montanelli L, Vitti P, Pinchera A. Tonacchera M, et al. Among authors: di cosmo c. Clin Endocrinol (Oxf). 2007 Nov;67(5):712-8. doi: 10.1111/j.1365-2265.2007.02950.x. Epub 2007 Aug 13. Clin Endocrinol (Oxf). 2007. PMID: 17697008
Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland.
Tonacchera M, De Marco G, Agretti P, Montanelli L, Di Cosmo C, Freitas Ferreira AC, Dimida A, Ferrarini E, Ramos HE, Ceccarelli C, Brozzi F, Pinchera A, Vitti P. Tonacchera M, et al. Among authors: di cosmo c. J Clin Endocrinol Metab. 2009 Nov;94(11):4309-14. doi: 10.1210/jc.2009-0426. Epub 2009 Sep 29. J Clin Endocrinol Metab. 2009. PMID: 19789206
Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism.
De Marco G, Agretti P, Montanelli L, Di Cosmo C, Bagattini B, De Servi M, Ferrarini E, Dimida A, Freitas Ferreira AC, Molinaro A, Ceccarelli C, Brozzi F, Pinchera A, Vitti P, Tonacchera M. De Marco G, et al. Among authors: di cosmo c. J Clin Endocrinol Metab. 2011 Aug;96(8):E1335-9. doi: 10.1210/jc.2010-2467. Epub 2011 May 11. J Clin Endocrinol Metab. 2011. PMID: 21565790
45 results