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Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.
Vincenzi M, Camilot M, Ferrarini E, Teofoli F, Venturi G, Gaudino R, Cavarzere P, De Marco G, Agretti P, Dimida A, Tonacchera M, Boner A, Antoniazzi F. Vincenzi M, et al. BMC Endocr Disord. 2014 Aug 22;14:69. doi: 10.1186/1472-6823-14-69. BMC Endocr Disord. 2014. PMID: 25146893 Free PMC article.
Possible andrologic markers in elevated neonatal 17-hydroxyprogesterone.
Cavarzere P, Vincenzi M, Gaudino R, Franceschi R, Perlini S, Camilot M, Teofoli F, Antoniazzi F, Tatò L. Cavarzere P, et al. Among authors: vincenzi m. Fertil Steril. 2010 Nov;94(6):2350-2. doi: 10.1016/j.fertnstert.2010.04.040. Epub 2010 May 26. Fertil Steril. 2010. PMID: 20537623 Free article.
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: vincenzi m. J Bone Miner Res. 2012 Mar;27(3):723-8. doi: 10.1002/jbmr.1480. J Bone Miner Res. 2012. PMID: 22113968 Free article.
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations.
Popa FI, Perlini S, Teofoli F, Degani D, Funghini S, La Marca G, Rinaldo P, Vincenzi M, Antoniazzi F, Boner A, Camilot M. Popa FI, et al. Among authors: vincenzi m. JIMD Rep. 2012;2:71-7. doi: 10.1007/8904_2011_50. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430856 Free PMC article.
312 results