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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: pinchera 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: pinchera 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
The sodium-iodide symporter protein is always present at a low expression and confined to the cell membrane in nonfunctioning nonadenomatous nodules of toxic nodular goitre.
Tonacchera M, Viacava P, Fanelli G, Agretti P, De Marco G, De Servi M, Di Cosmo C, Chiovato L, Pinchera A, Vitti P. Tonacchera M, et al. Among authors: pinchera a. Clin Endocrinol (Oxf). 2004 Jul;61(1):40-5. doi: 10.1111/j.1365-2265.2004.02047.x. Clin Endocrinol (Oxf). 2004. PMID: 15212643
Gonadotrophin receptor blocking antibodies measured by the use of cell lines stably expressing human gonadotrophin receptors are not detectable in women with 46,XX premature ovarian failure.
Tonacchera M, Ferrarini E, Dimida A, Agretti P, De Marco G, De Servi M, Gianetti E, Chiovato L, Pucci E, Pra CD, Betterle C, Aghini-Lombardi F, Vitti P, Pinchera A. Tonacchera M, et al. Among authors: pinchera a. Clin Endocrinol (Oxf). 2004 Sep;61(3):376-81. doi: 10.1111/j.1365-2265.2004.02107.x. Clin Endocrinol (Oxf). 2004. PMID: 15355455
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: pinchera 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: pinchera 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
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: pinchera a. 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
681 results