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Page 1
Novel association of MEN1 gene mutations with parathyroid carcinoma.
Cinque L, Sparaneo A, Cetani F, Coco M, Clemente C, Chetta M, Balsamo T, Battista C, Sanpaolo E, Pardi E, D'Agruma L, Marcocci C, Maiello E, Hendy GN, Cole DEC, Scillitani A, Guarnieri V. Cinque L, et al. Oncol Lett. 2017 Jul;14(1):23-30. doi: 10.3892/ol.2017.6162. Epub 2017 May 12. Oncol Lett. 2017. PMID: 28693130 Free PMC article.
CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort.
Guarnieri V, Battista C, Muscarella LA, Bisceglia M, de Martino D, Baorda F, Maiello E, D'Agruma L, Chiodini I, Clemente C, Minisola S, Romagnoli E, Corbetta S, Viti R, Eller-Vainicher C, Spada A, Iacobellis M, Malavolta N, Carella M, Canaff L, Hendy GN, Cole DE, Scillitani A. Guarnieri V, et al. Cell Oncol (Dordr). 2012 Dec;35(6):411-22. doi: 10.1007/s13402-012-0100-x. Epub 2012 Sep 18. Cell Oncol (Dordr). 2012. PMID: 22987117
Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.
Pazienza V, la Torre A, Baorda F, Alfarano M, Chetta M, Muscarella LA, Battista C, Copetti M, Kotzot D, Kapelari K, Al-Abdulrazzaq D, Perlman K, Sochett E, Cole DE, Pellegrini F, Canaff L, Hendy GN, D'Agruma L, Zelante L, Carella M, Scillitani A, Guarnieri V. Pazienza V, et al. PLoS One. 2013 Dec 5;8(12):e82292. doi: 10.1371/journal.pone.0082292. eCollection 2013. PLoS One. 2013. PMID: 24340015 Free PMC article.
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. 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.
CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
Guarnieri V, Valentina D'Elia A, Baorda F, Pazienza V, Benegiamo G, Stanziale P, Copetti M, Battista C, Grimaldi F, Damante G, Pellegrini F, D'Agruma L, Zelante L, Carella M, Scillitani A. Guarnieri V, et al. Mol Genet Metab. 2012 Nov;107(3):548-52. doi: 10.1016/j.ymgme.2012.06.012. Epub 2012 Jun 26. Mol Genet Metab. 2012. PMID: 22789683
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L. Ciavarella M, et al. Gene. 2013 Feb 25;515(2):339-48. doi: 10.1016/j.gene.2012.11.055. Epub 2012 Dec 20. Gene. 2013. PMID: 23262345
59 results