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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
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
Parathyroid expression of calcium-sensing receptor protein and in vivo parathyroid hormone-Ca(2+) set-point in patients with primary hyperparathyroidism.
Cetani F, Picone A, Cerrai P, Vignali E, Borsari S, Pardi E, Viacava P, Naccarato AG, Miccoli P, Kifor O, Brown EM, Pinchera A, Marcocci C. Cetani F, et al. Among authors: pardi e. J Clin Endocrinol Metab. 2000 Dec;85(12):4789-94. doi: 10.1210/jcem.85.12.7028. J Clin Endocrinol Metab. 2000. PMID: 11134144 Clinical Trial.
A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis.
Cetani F, Barbesino G, Borsari S, Pardi E, Cianferotti L, Pinchera A, Marcocci C. Cetani F, et al. Among authors: pardi e. J Clin Endocrinol Metab. 2001 Oct;86(10):4747-52. doi: 10.1210/jcem.86.10.7884. J Clin Endocrinol Metab. 2001. PMID: 11600535
65 results