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Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas.
Calebiro D, Grassi ES, Eszlinger M, Ronchi CL, Godbole A, Bathon K, Guizzardi F, de Filippis T, Krohn K, Jaeschke H, Schwarzmayr T, Bircan R, Gozu HI, Sancak S, Niedziela M, Strom TM, Fassnacht M, Persani L, Paschke R. Calebiro D, et al. Among authors: persani l. J Clin Invest. 2016 Sep 1;126(9):3383-8. doi: 10.1172/JCI84894. Epub 2016 Aug 8. J Clin Invest. 2016. PMID: 27500488 Free PMC article.
Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.
Beck-Peccoz P, Persani L, Calebiro D, Bonomi M, Mannavola D, Campi I. Beck-Peccoz P, et al. Among authors: persani l. Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):529-46. doi: 10.1016/j.beem.2006.11.001. Best Pract Res Clin Endocrinol Metab. 2006. PMID: 17161330 Review.
Absence of sonic hedgehog (Shh) germline mutations in patients with thyroid dysgenesis.
Muzza M, Persani L, de Filippis T, Gastaldi R, Vigone MC, Sala D, Weber G, Lorini R, Beck-Peccoz P, Fugazzola L. Muzza M, et al. Among authors: persani l. Clin Endocrinol (Oxf). 2008 Nov;69(5):828-9. doi: 10.1111/j.1365-2265.2008.03265.x. Epub 2008 Apr 10. Clin Endocrinol (Oxf). 2008. PMID: 18410549 No abstract available.
Persistent cAMP-signals triggered by internalized G-protein-coupled receptors.
Calebiro D, Nikolaev VO, Gagliani MC, de Filippis T, Dees C, Tacchetti C, Persani L, Lohse MJ. Calebiro D, et al. Among authors: persani l. PLoS Biol. 2009 Aug;7(8):e1000172. doi: 10.1371/journal.pbio.1000172. Epub 2009 Aug 18. PLoS Biol. 2009. PMID: 19688034 Free PMC article.
Genetics and phenomics of hypothyroidism due to TSH resistance.
Persani L, Calebiro D, Cordella D, Weber G, Gelmini G, Libri D, de Filippis T, Bonomi M. Persani L, et al. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):72-82. doi: 10.1016/j.mce.2010.01.008. Epub 2010 Jan 18. Mol Cell Endocrinol. 2010. PMID: 20083154 Review.
Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.
Calebiro D, Gelmini G, Cordella D, Bonomi M, Winkler F, Biebermann H, de Marco A, Marelli F, Libri DV, Antonica F, Vigone MC, Cappa M, Mian C, Sartorio A, Beck-Peccoz P, Radetti G, Weber G, Persani L. Calebiro D, et al. Among authors: persani l. J Clin Endocrinol Metab. 2012 Jan;97(1):E156-60. doi: 10.1210/jc.2011-1938. Epub 2011 Nov 2. J Clin Endocrinol Metab. 2012. PMID: 22049173
386 results