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Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein.
Tonacchera M, Agretti P, de Marco G, Elisei R, Perri A, Ambrogini E, De Servi M, Ceccarelli C, Viacava P, Refetoff S, Panunzi C, Bitti ML, Vitti P, Chiovato L, Pinchera A. Tonacchera M, et al. Among authors: perri a. Clin Endocrinol (Oxf). 2003 Oct;59(4):500-6. doi: 10.1046/j.1365-2265.2003.01877.x. Clin Endocrinol (Oxf). 2003. PMID: 14510914
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: perri a. 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: perri a. 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: perri a. 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
Thyroid resistance to TSH complicated by autoimmune thyroiditis.
Tonacchera M, Agretti P, De Marco G, Perri A, Pinchera A, Vitti P, Chiovato L. Tonacchera M, et al. Among authors: perri a. J Clin Endocrinol Metab. 2001 Sep;86(9):4543-6. doi: 10.1210/jcem.86.9.7791. J Clin Endocrinol Metab. 2001. PMID: 11549705
252 results