WEBER, GIOVANNA
WEBER, GIOVANNA
DIPARTIMENTO DI SCIENZE E TECNOLOGIE BIOMEDICHE (attivo dal 01/01/1960 al 27/04/2012)
Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism
2023 D. Gentilini, M. Muzza, T. de Filippis, M.C. Vigone, G. Weber, L. Calzari, A. Cassio, M. Di Frenna, M. Bartolucci, E.S. Grassi, E. Carbone, A. Olivieri, L. Persani
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
2021 S. Garelli, M. Dalla Costa, C. Sabbadin, S. Barollo, B. Rubin, R. Scarpa, S. Masiero, A. Fierabracci, C. Bizzarri, A. Crinò, M. Cappa, M. Valenzise, A. Meloni, A.M. De Bellis, C. Giordano, F. Presotto, R. Perniola, D. Capalbo, M.C. Salerno, A. Stigliano, G. Radetti, V. Camozzi, N.A. Greggio, F. Bogazzi, I. Chiodini, U. Pagotto, S.K. Black, S. Chen, B. Rees Smith, J. Furmaniak, G. Weber, F. Pigliaru, L. De Sanctis, C. Scaroni, C. Betterle
Neonatal Screening for Congenital Hypothyroidism: What Can We Learn from Discordant Twins
2019 E. Medda, M.C. Vigone, A. Cassio, F. Calaciura, P. Costa, G. Weber, T. De Filippis, G. Gelmini, M. Di Frenna, S. Caiulo, R. Ortolano, D. Rotondi, M. Bartolucci, R. Gelsomino, S. De Angelis, M. Gabbianelli, L. Persani, A. Olivieri
X-linked hypophosphatemic rickets : an Italian experts' opinion survey
2019 F. Emma, M. Cappa, F. Antoniazzi, M.L. Bianchi, I. Chiodini, C. Eller Vainicher, N. Di Iorgi, M. Maghnie, A. Cassio, A. Balsamo, F. Baronio, L. de Sanctis, D. Tessaris, G.I. Baroncelli, S. Mora, M.L. Brandi, G. Weber, A. D'Ausilio, E.P. Lanati
Mild TSH resistance : Clinical and hormonal features in childhood and adulthood
2017 M.C. Vigone, M. Di Frenna, F. Guizzardi, G. Gelmini, T. de Filippis, S. Mora, S. Caiulo, M. Sonnino, M. Bonomi, L. Persani, G. Weber
NovelNKX2-1frameshift mutations in patients with atypical phenotypes of the brain-lung-thyroid syndrome
2014 T. de Filippis, F. Marelli, M.C. Vigone, M. Di Frenna, G. Weber, L. Persani
The Italian screening program for primary congenital hypothyroidism : actions to improve screening, diagnosis, follow-up, and surveillance
2013 A. Cassio, C. Corbetta, I. Antonozzi, F. Calaciura, U. Caruso, G. Cesaretti, R. Gastaldi, E. Medda, F. Mosca, E. Pasquini, M.C. Salerno, V. Stoppioni, M. Tonacchera, G. Weber, A. Olivieri
Genetics and phenomics of hypothyroidism due to TSH resistance
2010 L. Persani, D. Calebiro, D. Cordella, G. Weber, G. Gelmini, D.V. Libri, T. De Filippis, M. Bonomi
A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)
2009 C. Corbetta, G. Weber, F. Cortinovis, D. Calebiro, A. Passoni, M.C. Vigone, P. Beck Peccoz, G. Chiumello, L. Persani
Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy
2007 L. Fugazzola, L. Persani, G. Vannucchi, M. Carletto, D. Mannavola, M.C. Vigone, F. Cortinovis, L. Beccaria, V. Longari,G. Weber, P. Beck-Peccoz
Congenital hypothyroidism with gland in situ: diagnostic re-evaluation
2005 G. Weber, M.C. Vigone, A. Passoni, M. Odoni, P.L. Paesano, F. Dosio, M.C. Proverbio, C. Corbetta, L. Persani, G. Chiumello
Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: New evidence for imprinting of the Gsα gene
2003 G. Mantovani, M. Maghnie, G. Weber, E. De Menis, V. Brunelli, M. Cappa, P. Loli, P. Beck-Peccoz, A. Spada