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Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism.
Cotellessa L, Marelli F, Duminuco P, Adamo M, Papadakis GE, Bartoloni L, Sato N, Lang-Muritano M, Troendle A, Dhillo WS, Morelli A, Guarnieri G, Pitteloud N, Persani L, Bonomi M, Giacobini P, Vezzoli V. Cotellessa L, et al. Among authors: marelli f. JCI Insight. 2023 Mar 8;8(5):e161998. doi: 10.1172/jci.insight.161998. JCI Insight. 2023. PMID: 36729644 Free PMC article.
Syndromes of resistance to TSH.
Persani L, Gelmini G, Marelli F, Beck-Peccoz P, Bonomi M. Persani L, et al. Among authors: marelli f. Ann Endocrinol (Paris). 2011 Apr;72(2):60-3. doi: 10.1016/j.ando.2011.03.007. Epub 2011 Apr 21. Ann Endocrinol (Paris). 2011. PMID: 21513912 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: marelli f. 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
A frequent oligogenic involvement in congenital hypothyroidism.
de Filippis T, Gelmini G, Paraboschi E, Vigone MC, Di Frenna M, Marelli F, Bonomi M, Cassio A, Larizza D, Moro M, Radetti G, Salerno M, Ardissino D, Weber G, Gentilini D, Guizzardi F, Duga S, Persani L. de Filippis T, et al. Among authors: marelli f. Hum Mol Genet. 2017 Jul 1;26(13):2507-2514. doi: 10.1093/hmg/ddx145. Hum Mol Genet. 2017. PMID: 28444304 Free article.
Role of Jagged1-Notch pathway in thyroid development.
Marelli F, Persani L. Marelli F, et al. J Endocrinol Invest. 2018 Jan;41(1):75-81. doi: 10.1007/s40618-017-0715-x. Epub 2017 Jun 26. J Endocrinol Invest. 2018. PMID: 28653287 Review.
59 results