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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
Risk of nephrolithiasis in primary hyperparathyroidism is associated with two polymorphisms of the calcium-sensing receptor gene.
Vezzoli G, Scillitani A, Corbetta S, Terranegra A, Dogliotti E, Guarnieri V, Arcidiacono T, Macrina L, Mingione A, Brasacchio C, Eller-Vainicher C, Cusi D, Spada A, Cole DE, Hendy GN, Spotti D, Soldati L. Vezzoli G, et al. Among authors: guarnieri v. J Nephrol. 2015 Feb;28(1):67-72. doi: 10.1007/s40620-014-0106-8. Epub 2014 May 16. J Nephrol. 2015. PMID: 24832896
Paraoxonase gene variants are associated with autism in North America, but not in Italy: possible regional specificity in gene-environment interactions.
D'Amelio M, Ricci I, Sacco R, Liu X, D'Agruma L, Muscarella LA, Guarnieri V, Militerni R, Bravaccio C, Elia M, Schneider C, Melmed R, Trillo S, Pascucci T, Puglisi-Allegra S, Reichelt KL, Macciardi F, Holden JJ, Persico AM. D'Amelio M, et al. Among authors: guarnieri v. Mol Psychiatry. 2005 Nov;10(11):1006-16. doi: 10.1038/sj.mp.4001714. Mol Psychiatry. 2005. PMID: 16027737
A rare S33C mutation of CTNNB1 encoding β-catenin in a parathyroid adenoma found in an Italian primary hyperparathyroid cohort.
Guarnieri V, Baorda F, Battista C, Bisceglia M, Balsamo T, Gruppioni E, Fiorentino M, Muscarella LA, Coco M, Barbano R, Corbetta S, Spada A, Cole DE, Canaff L, Hendy GN, Carella M, Scillitani A. Guarnieri V, et al. Endocrine. 2012 Feb;41(1):152-5. doi: 10.1007/s12020-011-9558-y. Epub 2011 Nov 18. Endocrine. 2012. PMID: 22095489 No abstract available.
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.
Calcium-sensing receptor and associated diseases.
Hendy GN, Guarnieri V, Canaff L. Hendy GN, et al. Among authors: guarnieri v. Prog Mol Biol Transl Sci. 2009;89:31-95. doi: 10.1016/S1877-1173(09)89003-0. Epub 2009 Oct 7. Prog Mol Biol Transl Sci. 2009. PMID: 20374733 Review.
107 results