PERSANI, LUCA
PERSANI, LUCA
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale
2012 European thyroid association guidelines for the management of familial and persistent sporadic non-autoimmune hyperthyroidism caused by thyroid-stimulating hormone receptor germline mutations.
2012 V. Paschke, M. Niedzela, B. Vaidya, L. Persani, B. Rapoport, J. Leclere
2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism
2018 L. Persani, G. Brabant, M. Dattani, M. Bonomi, U. Feldt-Rasmussen, E. Fliers, A. Gruters, D. Maiter, N. Schoenmakers, A.S.P. van Trotsenburg
8-Chloro-cyclic AMP and protein kinase A I-selective cyclic AMP analogs inhibit cancer cell growth through different mechanisms
2011 S. Lucchi, D. Calebiro, T. de Filippis, E. Grassi, M. Borghi, L. Persani
8-Cl-cAMP and PKA I-selective cAMP analogs effectively inhibit undifferentiated thyroid cancer cell growth
2016 E.S. Grassi, A. Dicitore, I. Negri, M.O. Borghi, G. Vitale, L. Persani
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
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature
2018 M. Crippa, S. Giangiobbe, R. Villa, I. Bestetti, T. De Filippis, L. Fatti, J. Taurino, L. Larizza, L. Persani, F. Bellini, P. Finelli, M. Bonati
A clinical research integration special program (CRISP) for young women with primary ovarian insufficiency
2014 A. Falorni, V. Minarelli, C.M. Eads, C.M. Joachim, L. Persani, R. Rossetti, P. Yurttas Beim, V.A. Pellegrini, P.F. Schnatz, S. Rafique, K. Kissell, K.A. Calis, V. Popat, L.M. Nelson
A design thinking approach to primary ovarian insufficiency
2017 L.A. Martin, A.G. Porter, V.A. Pelligrini, P.F. Schnatz, X. Jiang, N. Kleinstreuer, J.E. Hall, S. Verbiest, J. Olmstead, R. Fair, A. Falorni, L. Persani, A. Rajkovic, K. Mehta, L.M. Nelson
A family with complete resistance to thyrotropin-releasing hormone
2009 M. Bonomi, M. Busnelli, P. Beck-Peccoz, D. Costanzo, F. Antonica, C. Dolci, A. Pilotta, F. Buzi, L. Persani
A Frequent Oligogenic Involvement in Congenital Hypothyroidism
2017 T. de Filippis, G. Gelmini, E. Paraboschi, M.C. Vigone, M. Di Frenna, F. Marelli, M. Bonomi, A. Cassio, D. Larizza, M. Moro, G. Radetti, M. Salerno, D. Ardissino, G. Weber, D. Gentilini, F. Guizzardi, S. Duga, L. Persani
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure
2009 T. Corre, J. Schuettler, S. Bione, A. Marozzi, L. Persani, R. Rossetti, F. Torricelli, I. Giotti, P. Vogt, D. Toniolo, I. Network for the study of Ovarian Dysfunctions
A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function
2013 E. Porcu, M. Medici, G. Pistis, C.B. Volpato, S.G. Wilson, A.R. Cappola, S.D. Bos, J. Deelen, M. den Heijer, R.M. Freathy, J. Lahti, C. Liu, L.M. Lopez, I.M. Nolte, J.R. O’Connell, T. Tanaka, S. Trompet, A. Arnold, S. Bandinelli, M. Beekman, S. Bohringer, S.J. Brown, B.M. Buckley, C. Camaschella, A.J.M. de Craen, G. Davies, M.C.H. de Visser, I. Ford, T. Forsen, T.M. Frayling, L. Fugazzola, M. Gogele, A.T. Hattersley, A.R. Hermus, A. Hofman, J.J. Houwing Duistermaat, R.A. Jensen, E. Kajantie, M. Kloppenburg, E.M. Lim, C. Masciullo, S. Mariotti, C. Minelli, B.D. Mitchell, R. Nagaraja, R.T. Netea Maier, A. Palotie, L. Persani, M.G. Piras, B.M. Psaty, K. Raikkonen, J.B. Richards, F. Rivadeneira, C. Sala, M.M. Sabra, N. Sattar, B.M. Shields, N. Soranzo, J.M. Starr, D.J. Stott, F.C.G.J. Sweep, G. Usala, M.M. van der Klauw, D. van Heemst, A. van Mullem, S.H. Vermeulen, W.E. Visser, J.P. Walsh, R.G.J. Westendorp, E. Widen, G. Zhai, F. Cucca, I.J. Deary, J.G. Eriksson, L. Ferrucci, C.S. Fox, J.W. Jukema, L.A. Kiemeney, P.P. Pramstaller, D. Schlessinger, A.R. Shuldiner, E.P. Slagboom, A.G. Uitterlinden, B. Vaidya, T.J. Visser, B.H.R. Wolffenbutte, I. Meulenbelt, J.I. Rotter, T.D. Spector, A.A. Hicks, D. Toniolo, S. Sanna, R.P. Peeters, S. Naitza
A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia
2015 V. Vezzoli, P. Duminuco, A. Vottero, G. Kleinau, R. Schülein, R. Minari, I. Bassi, S. Bernasconi, L. Persani, M. Bonomi
A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism
2001 L. Alberti, M. C. Proverbio, S. Costagliola, G. Weber, P. Beck-Peccoz, G. Chiumello, L. Persani
A novel germline mutation of ADA2 gene in two “discordant” homozygous female twins affected by adenosine deaminase 2 deficiency: description of the bone-related phenotype
2021 S. Vai, E. Marin, R. Cosso, F. Saettini, S. Bonanomi, A. Cattoni, I. Chiodini, L. Persani, A. Falchetti
A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome
2018 E.F. Roche, A. Mcgowan, O. Koulouri, M. Turgeon, A.K. Nicholas, E. Heffernan, R. El-Khairi, N. Abid, G. Lyons, D. Halsall, M. Bonomi, L. Persani, M.T. Dattani, M. Gurnell, D.J. Bernard, N. Schoenmakers
A novel mutation in the BMP15 gene causing defective protein secretion is associated with both increased ovulation rate and sterility in Lacaune sheep
2007 L. Bodin, E. Di Pasquale, S. Fabre, M. Bontoux, P. Monget, L. Persani, P. Mulsant
A novel splice variant involving the 5’ untranslated region of thyroid hormone receptor beta1 (TRbeta1)
2004 D. Mannavola, L.C. Moeller, P. Beck-Peccoz, L. Persani, R.E. Weiss, S. Refetoff
A novel splice variant involving the 5’ untranslated region of thyroid hormone receptor β1 (TRβ1)
2004 D. Mannavola, L..C. Moeller, P. Beck-Peccoz, L. Persani, R..E. Weiss, S. Refetoff
A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup
2012 G. Francescato, A. Salvatoni, L. Persani, M. Agosti