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Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
De Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Scirè G, Crino A, Baroncelli GI, Salerno M, Di Maio S, Cappa M, Grosso S, Rigon F, Lala R, De Sanctis C, Dianzani I. De Sanctis L, et al. Among authors: cappa m. Pediatr Res. 2003 May;53(5):749-55. doi: 10.1203/01.PDR.0000059752.07086.A2. Epub 2003 Mar 5. Pediatr Res. 2003. PMID: 12621129
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth.
Mantovani G, Ferrante E, Giavoli C, Linglart A, Cappa M, Cisternino M, Maghnie M, Ghizzoni L, de Sanctis L, Lania AG, Beck-Peccoz P, Spada A. Mantovani G, et al. Among authors: cappa m. J Clin Endocrinol Metab. 2010 Nov;95(11):5011-7. doi: 10.1210/jc.2010-1649. Epub 2010 Aug 18. J Clin Endocrinol Metab. 2010. PMID: 20719837 Clinical Trial.
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: cappa m. 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
New understandings of the genetic basis of isolated idiopathic central hypogonadism.
Bonomi M, Libri DV, Guizzardi F, Guarducci E, Maiolo E, Pignatti E, Asci R, Persani L; Idiopathic Central Hypogonadism Study Group of the Italian Societies of Endocrinology and Pediatric Endocrinology and Diabetes. Bonomi M, et al. Asian J Androl. 2012 Jan;14(1):49-56. doi: 10.1038/aja.2011.68. Epub 2011 Dec 5. Asian J Androl. 2012. PMID: 22138902 Free PMC article. Review.
Characterizing short stature by insulin-like growth factor axis status and genetic associations: results from the prospective, cross-sectional, epidemiogenetic EPIGROW study.
Clayton P, Bonnemaire M, Dutailly P, Maisonobe P, Naudin L, Pham E, Zhang Z, Grupe A, Thiagalingam A, Denèfle P; EPIGROW Study Group. Clayton P, et al. J Clin Endocrinol Metab. 2013 Jun;98(6):E1122-30. doi: 10.1210/jc.2012-4283. Epub 2013 Apr 17. J Clin Endocrinol Metab. 2013. PMID: 23596138
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.
397 results