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Page 1
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. Among authors: stanziale p. 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. Among authors: stanziale p. Gene. 2013 Feb 25;515(2):339-48. doi: 10.1016/j.gene.2012.11.055. Epub 2012 Dec 20. Gene. 2013. PMID: 23262345
High RAD51 mRNA expression characterize estrogen receptor-positive/progesteron receptor-negative breast cancer and is associated with patient's outcome.
Barbano R, Copetti M, Perrone G, Pazienza V, Muscarella LA, Balsamo T, Storlazzi CT, Ripoli M, Rinaldi M, Valori VM, Latiano TP, Maiello E, Stanziale P, Carella M, Mangia A, Pellegrini F, Bisceglia M, Muda AO, Altomare V, Murgo R, Fazio VM, Parrella P. Barbano R, et al. Among authors: stanziale p. Int J Cancer. 2011 Aug 1;129(3):536-45. doi: 10.1002/ijc.25736. Epub 2010 Dec 9. Int J Cancer. 2011. PMID: 21064098
Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis.
Perri F, Piepoli A, Stanziale P, Merla A, Zelante L, Andriulli A. Perri F, et al. Among authors: stanziale p. Eur J Hum Genet. 2003 Sep;11(9):687-92. doi: 10.1038/sj.ejhg.5201035. Eur J Hum Genet. 2003. PMID: 12939655
43 results