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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: vitti 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 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: vitti 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 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: vitti p. 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
371 results