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Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A. Caciotti A, et al. Among authors: monti e. Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751. Hum Mutat. 2015. PMID: 25545067
Molecular study of 33 families with Fraser syndrome new data and mutation review.
van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K; Fraser Syndrome Collaboration Group; Hennekam RC, Scambler PJ. van Haelst MM, et al. Among authors: monti e. Am J Med Genet A. 2008 Sep 1;146A(17):2252-7. doi: 10.1002/ajmg.a.32440. Am J Med Genet A. 2008. PMID: 18671281
Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen.
Venturi G, Gandini A, Monti E, Dalle Carbonare L, Corradi M, Vincenzi M, Valenti MT, Valli M, Pelilli E, Boner A, Mottes M, Antoniazzi F. Venturi G, et al. Among authors: monti e. J Bone Miner Res. 2012 Mar;27(3):723-8. doi: 10.1002/jbmr.1480. J Bone Miner Res. 2012. PMID: 22113968 Free article.
GH in combination with bisphosphonate treatment in osteogenesis imperfecta.
Antoniazzi F, Monti E, Venturi G, Franceschi R, Doro F, Gatti D, Zamboni G, Tatò L. Antoniazzi F, et al. Among authors: monti e. Eur J Endocrinol. 2010 Sep;163(3):479-87. doi: 10.1530/EJE-10-0208. Epub 2010 Jun 30. Eur J Endocrinol. 2010. PMID: 20592128 Clinical Trial.
Osteogenesis imperfecta.
Ben Amor M, Rauch F, Monti E, Antoniazzi F. Ben Amor M, et al. Among authors: monti e. Pediatr Endocrinol Rev. 2013 Jun;10 Suppl 2:397-405. Pediatr Endocrinol Rev. 2013. PMID: 23858623 Review.
371 results