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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. Clin Endocrinol (Oxf). 2003 Oct;59(4):500-6. doi: 10.1046/j.1365-2265.2003.01877.x. Clin Endocrinol (Oxf). 2003. PMID: 14510914
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. 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
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. Clin Endocrinol (Oxf). 2004 Sep;61(3):376-81. doi: 10.1111/j.1365-2265.2004.02107.x. Clin Endocrinol (Oxf). 2004. PMID: 15355455
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