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19q13 microdeletion syndrome: Further refining the critical region.
Forzano F, Napoli F, Uliana V, Malacarne M, Viaggi C, Bloise R, Coviello D, Di Maria E, Olivieri I, Di Iorgi N, Faravelli F. Forzano F, et al. Among authors: di iorgi n, di maria e. Eur J Med Genet. 2012 Jun;55(6-7):429-32. doi: 10.1016/j.ejmg.2012.03.002. Epub 2012 Apr 10. Eur J Med Genet. 2012. PMID: 22510526
Real-life long-term efficacy and safety of recombinant human growth hormone therapy in children with short stature homeobox-containing deficiency.
Bruzzi P, Vannelli S, Scarano E, Di Iorgi N, Parpagnoli M, Salerno M, Pitea M, Elisabeth Street M, Secco A, Andrea Trettene A, Wasniewska M, Corciulo N, Tornese G, Felicia Faienza M, Delvecchio M, Filomena Madeo S, Iughetti L. Bruzzi P, et al. Among authors: di iorgi n. Endocr Connect. 2023 Jun 8;12(7):e220402. doi: 10.1530/EC-22-0402. Print 2023 Jul 1. Endocr Connect. 2023. PMID: 37014306 Free PMC article.
Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways.
Libri DV, Kleinau G, Vezzoli V, Busnelli M, Guizzardi F, Sinisi AA, Pincelli AI, Mancini A, Russo G, Beck-Peccoz P, Loche S, Crivellaro C, Maghnie M, Krausz C, Persani L, Bonomi M; Italian Study Group on Idiopathic Central Hypogonadism (ICH). Libri DV, et al. J Clin Endocrinol Metab. 2014 Mar;99(3):E458-63. doi: 10.1210/jc.2013-2431. Epub 2013 Nov 25. J Clin Endocrinol Metab. 2014. PMID: 24276467 Free article.
Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.
Ghizzoni L, Cappa M, Vottero A, Ubertini G, Carta D, Di Iorgi N, Gasco V, Marchesi M, Raggi V, Ibba A, Napoli F, Massimi A, Maghnie M, Loche S, Porzio O. Ghizzoni L, et al. Among authors: di iorgi n. Eur J Endocrinol. 2011 Aug;165(2):307-14. doi: 10.1530/EJE-11-0119. Epub 2011 Jun 6. Eur J Endocrinol. 2011. PMID: 21646284 Free article.
Diabetes insipidus--diagnosis and management.
Di Iorgi N, Napoli F, Allegri AE, Olivieri I, Bertelli E, Gallizia A, Rossi A, Maghnie M. Di Iorgi N, et al. Horm Res Paediatr. 2012;77(2):69-84. doi: 10.1159/000336333. Epub 2012 Mar 16. Horm Res Paediatr. 2012. PMID: 22433947 Review.
102 results