Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3

por Elli, F. M., deSanctis, L., Maffini, M.A., Bordogna, P., Tessaris, D., Pirelli, A., Arosio, M., Linglart, A., Mantovani, G.
Publicado 2019

Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption

por de Sanctis, L., Giachero, F., Mantovani, G., Weber, G., Salerno, M., Baroncelli, G. I., Elli, M. F., Matarazzo, P., Wasniewska, M., Mazzanti, L., Scirè, G., Tessaris, D.
Publicado 2016

X-linked hypophosphatemic rickets: an Italian experts’ opinion survey

por Emma, F., Cappa, M., Antoniazzi, F., Bianchi, M. L., Chiodini, I., Eller Vainicher, C., Di Iorgi, N., Maghnie, M., Cassio, A., Balsamo, A., Baronio, F., de Sanctis, L., Tessaris, D., Baroncelli, G. I., Mora, S., Brandi, M. L., Weber, G., D’Ausilio, A., Lanati, E. P.
Publicado 2019

Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients

por Garelli, S., Dalla Costa, M., Sabbadin, C., Barollo, S., Rubin, B., Scarpa, R., Masiero, S., Fierabracci, A., Bizzarri, C., Crinò, A., Cappa, M., Valenzise, M., Meloni, A., De Bellis, A. M., Giordano, C., Presotto, F., Perniola, R., Capalbo, D., Salerno, M. C., Stigliano, A., Radetti, G., Camozzi, V., Greggio, N. A., Bogazzi, F., Chiodini, I., Pagotto, U., Black, S. K., Chen, S., Rees Smith, B., Furmaniak, J., Weber, G., Pigliaru, F., De Sanctis, L., Scaroni, C., Betterle, C.
Publicado 2021

Development of a pediatric differentiated thyroid carcinoma registry within the EuRRECa project: rationale and protocol

por Clement, S C, Visser, W E, Lebbink, C A, Albano, D, Claahsen-van der Grinten, H L, Czarniecka, A, Dias, R P, Dierselhuis, M P, Dzivite-Krisane, I, Elisei, R, Garcia-Burillo, A, Izatt, L, Kanaka-Gantenbein, C, Krude, H, Lamartina, L, Lorenz, K, Luster, M, Navardauskaitė, R, Negre Busó, M, Newbold, K, Peeters, R P, Pellegriti, G, Piccardo, A, Priego, A L, Redlich, A, de Sanctis, L, Sobrinho-Simões, M, van Trotsenburg, A S P, Verburg, F A, Vriens, M, Links, T P, Ahmed, S F, van Santen, H M
Publicado 2023