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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: agretti p. Clin Endocrinol (Oxf). 2003 Oct;59(4):500-6. doi: 10.1046/j.1365-2265.2003.01877.x. Clin Endocrinol (Oxf). 2003. PMID: 14510914
Genetic screening for melanocortin-4 receptor mutations in a cohort of Italian obese patients: description and functional characterization of a novel mutation.
Santini F, Maffei M, Ceccarini G, Pelosini C, Scartabelli G, Rosellini V, Chiellini C, Marsili A, Lisi S, Tonacchera M, Agretti P, Chiovato L, Mammoli C, Vitti P, Pinchera A. Santini F, et al. Among authors: agretti p. J Clin Endocrinol Metab. 2004 Feb;89(2):904-8. doi: 10.1210/jc.2003-031175. J Clin Endocrinol Metab. 2004. PMID: 14764812
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: agretti p. 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: agretti p. 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: agretti p. 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
75 results