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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: pinchera a. Clin Endocrinol (Oxf). 2003 Feb;58(2):199-206. doi: 10.1046/j.1365-2265.2003.01696.x. Clin Endocrinol (Oxf). 2003. PMID: 12580936
A reappraisal of the Rb1 gene abnormalities in the diagnosis of parathyroid cancer.
Cetani F, Pardi E, Viacava P, Pollina GD, Fanelli G, Picone A, Borsari S, Gazzerro E, Miccoli P, Berti P, Pinchera A, Marcocci C. Cetani F, et al. Among authors: pinchera a. Clin Endocrinol (Oxf). 2004 Jan;60(1):99-106. doi: 10.1111/j.1365-2265.2004.01954.x. Clin Endocrinol (Oxf). 2004. PMID: 14678295
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors.
Cetani F, Pardi E, Borsari S, Viacava P, Dipollina G, Cianferotti L, Ambrogini E, Gazzerro E, Colussi G, Berti P, Miccoli P, Pinchera A, Marcocci C. Cetani F, et al. Among authors: pinchera a. J Clin Endocrinol Metab. 2004 Nov;89(11):5583-91. doi: 10.1210/jc.2004-0294. J Clin Endocrinol Metab. 2004. PMID: 15531515
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: pinchera a. 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.
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: pinchera a. 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: pinchera a. J Clin Endocrinol Metab. 2001 Oct;86(10):4747-52. doi: 10.1210/jcem.86.10.7884. J Clin Endocrinol Metab. 2001. PMID: 11600535
681 results