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A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype.
Occhi G, Regazzo D, Trivellin G, Boaretto F, Ciato D, Bobisse S, Ferasin S, Cetani F, Pardi E, Korbonits M, Pellegata NS, Sidarovich V, Quattrone A, Opocher G, Mantero F, Scaroni C. Occhi G, et al. Among authors: pardi e. PLoS Genet. 2013 Mar;9(3):e1003350. doi: 10.1371/journal.pgen.1003350. Epub 2013 Mar 21. PLoS Genet. 2013. PMID: 23555276 Free PMC article.
Six novel MEN1 gene mutations in sporadic parathyroid tumors.
Cetani F, Pardi E, Giovannetti A, Cerrai P, Borsari S, Vignali E, Picone A, Cianferotti L, Miccoli P, Pinchera A, Marcocci C. Cetani F, et al. Among authors: pardi e. Hum Mutat. 2000 Nov;16(5):445. doi: 10.1002/1098-1004(200011)16:5<445::AID-HUMU12>3.0.CO;2-6. Hum Mutat. 2000. PMID: 11058905
Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation.
Cetani F, Pardi E, Borsari S, Tonacchera M, Morabito E, Pinchera A, Marcocci C, Dipollina G. Cetani F, et al. Among authors: pardi e. Clin Endocrinol (Oxf). 2003 Feb;58(2):199-206. doi: 10.1046/j.1365-2265.2003.01696.x. Clin Endocrinol (Oxf). 2003. PMID: 12580936
Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia.
Cetani F, Lemmi M, Cervia D, Borsari S, Cianferotti L, Pardi E, Ambrogini E, Banti C, Brown EM, Bagnoli P, Pinchera A, Marcocci C. Cetani F, et al. Among authors: pardi e. Eur J Endocrinol. 2009 Mar;160(3):481-9. doi: 10.1530/EJE-08-0798. Epub 2008 Dec 10. Eur J Endocrinol. 2009. PMID: 19073830 Free article.
65 results