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Filamin A is reduced and contributes to the CASR sensitivity in human parathyroid tumors.
Mingione A, Verdelli C, Ferrero S, Vaira V, Guarnieri V, Scillitani A, Vicentini L, Balza G, Beretta E, Terranegra A, Vezzoli G, Soldati L, Corbetta S. Mingione A, et al. Among authors: guarnieri v. J Mol Endocrinol. 2017 Feb;58(2):91-103. doi: 10.1530/JME-16-0184. Epub 2016 Nov 21. J Mol Endocrinol. 2017. PMID: 27872158 Free article.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: guarnieri v. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor.
Scillitani A, Guarnieri V, Battista C, De Geronimo S, Muscarella LA, Chiodini I, Cignarelli M, Minisola S, Bertoldo F, Francucci CM, Malavolta N, Piovesan A, Mascia ML, Muscarella S, Hendy GN, D'Agruma L, Cole DE. Scillitani A, et al. Among authors: guarnieri v. J Clin Endocrinol Metab. 2007 Jan;92(1):277-83. doi: 10.1210/jc.2006-0857. Epub 2006 Oct 3. J Clin Endocrinol Metab. 2007. PMID: 17018660 Free article.
Polymorphisms at the regulatory regions of the CASR gene influence stone risk in primary hyperparathyroidism.
Vezzoli G, Scillitani A, Corbetta S, Terranegra A, Dogliotti E, Guarnieri V, Arcidiacono T, Paloschi V, Rainone F, Eller-Vainicher C, Borghi L, Nouvenne A, Guerra A, Meschi T, Allegri F, Cusi D, Spada A, Cole DE, Hendy GN, Spotti D, Soldati L. Vezzoli G, et al. Among authors: guarnieri v. Eur J Endocrinol. 2011 Mar;164(3):421-7. doi: 10.1530/EJE-10-0915. Epub 2010 Dec 23. Eur J Endocrinol. 2011. PMID: 21183554
Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family.
Mastroianno S, Torlontano M, Scillitani A, D'Aloiso L, Verrienti A, Bonfitto N, De Bonis A, D'Agruma L, Muscarella LA, Guarnieri V, Dicembrino F, Maranghi M, Durante C, Filetti S. Mastroianno S, et al. Among authors: guarnieri v. Endocrine. 2011 Dec;40(3):481-5. doi: 10.1007/s12020-011-9501-2. Epub 2011 Jun 17. Endocrine. 2011. PMID: 21678021
Carboxyl-terminal parathyroid hormone fragments: biologic effects.
Scillitani A, Guarnieri V, Battista C, Chiodini I, Salcuni AS, Minisola S, Francucci CM, Carnevale V. Scillitani A, et al. Among authors: guarnieri v. J Endocrinol Invest. 2011 Jul;34(7 Suppl):23-6. J Endocrinol Invest. 2011. PMID: 21985976 Review.
107 results