Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?
Medda, Emanuela, Vigone, Maria Cristina, Cassio, Alessandra, Calaciura, Francesca, Costa, Pietro, Weber, Giovanna, de Filippis, Tiziana, Gelmini, Giulia, Di Frenna, Marianna, Caiulo, Silvana, Ortolano, Rita, Rotondi, Daniela, Bartolucci, Monica, Gelsomino, Rossella, De Angelis, Simona, Gabbianelli, Marco, Persani, Luca, Olivieri, Antonella
Published in The journal of clinical endocrinology and metabolism (01.12.2019)
Published in The journal of clinical endocrinology and metabolism (01.12.2019)
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Journal Article
New genetics in congenital hypothyroidism
Stoupa, Athanasia, Kariyawasam, Dulanjalee, Muzza, Marina, de Filippis, Tiziana, Fugazzola, Laura, Polak, Michel, Persani, Luca, Carré, Aurore
Published in Endocrine (01.03.2021)
Published in Endocrine (01.03.2021)
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Journal Article
Newborn Screening for Congenital Hypothyroidism: the Benefit of Using Differential TSH Cutoffs in a 2-Screen Program
Caiulo, Silvana, Corbetta, Carlo, Di Frenna, Marianna, Medda, Emanuela, De Angelis, Simona, Rotondi, Daniela, Vincenzi, Gaia, de Filippis, Tiziana, Patricelli, Maria Grazia, Persani, Luca, Barera, Graziano, Weber, Giovanna, Olivieri, Antonella, Vigone, Maria Cristina
Published in The journal of clinical endocrinology and metabolism (01.01.2021)
Published in The journal of clinical endocrinology and metabolism (01.01.2021)
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Journal Article
JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects
de Filippis, Tiziana, Marelli, Federica, Nebbia, Gabriella, Porazzi, Patrizia, Corbetta, Sabrina, Fugazzola, Laura, Gastaldi, Roberto, Vigone, Maria Cristina, Biffanti, Roberta, Frizziero, Daniela, Mandarà, Luana, Prontera, Paolo, Salerno, Mariacarolina, Maghnie, Mohamad, Tiso, Natascia, Radetti, Giorgio, Weber, Giovanna, Persani, Luca
Published in The journal of clinical endocrinology and metabolism (01.03.2016)
Published in The journal of clinical endocrinology and metabolism (01.03.2016)
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Journal Article
Genetics and phenomics of hypothyroidism due to TSH resistance
Persani, Luca, Calebiro, Davide, Cordella, Daniela, Weber, Giovanna, Gelmini, Giulia, Libri, Domenico, de Filippis, Tiziana, Bonomi, Marco
Published in Molecular and cellular endocrinology (30.06.2010)
Published in Molecular and cellular endocrinology (30.06.2010)
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Journal Article
The length of FOXE1 polyalanine tract in congenital hypothyroidism: Evidence for a pathogenic role from familial, molecular and cohort studies
Grassi, Elisa Stellaria, Rurale, Giuditta, de Filippis, Tiziana, Gentilini, Davide, Carbone, Erika, Coscia, Francesca, Uraghi, Sarah, Bullock, Martyn, Clifton-Bligh, Roderick J, Gupta, Abhinav K, Persani, Luca
Published in Frontiers in endocrinology (Lausanne) (16.03.2023)
Published in Frontiers in endocrinology (Lausanne) (16.03.2023)
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Journal Article
Hydrological Web Services for Operational Flood Risk Monitoring and Forecasting at Local Scale in Niger
De Filippis, Tiziana, Rocchi, Leandro, Massazza, Giovanni, Pezzoli, Alessandro, Rosso, Maurizio, Housseini Ibrahim, Mohamed, Tarchiani, Vieri
Published in ISPRS international journal of geo-information (01.04.2022)
Published in ISPRS international journal of geo-information (01.04.2022)
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Journal Article
Recent Changes in Hydroclimatic Patterns over Medium Niger River Basins at the Origin of the 2020 Flood in Niamey (Niger)
Massazza, Giovanni, Bacci, Maurizio, Descroix, Luc, Ibrahim, Mohamed Housseini, Fiorillo, Edoardo, Katiellou, Gaptia Lawan, Panthou, Geremy, Pezzoli, Alessandro, Rosso, Maurizio, Sauzedde, Elisa, Terenziani, Andrea, De Filippis, Tiziana, Rocchi, Leandro, Burrone, Sara, Tiepolo, Maurizio, Vischel, Théo, Tarchiani, Vieri
Published in Water (Basel) (01.06.2021)
Published in Water (Basel) (01.06.2021)
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Journal Article
Persistent cAMP-signals triggered by internalized G-protein-coupled receptors
Calebiro, Davide, Nikolaev, Viacheslav O, Gagliani, Maria Cristina, de Filippis, Tiziana, Dees, Christian, Tacchetti, Carlo, Persani, Luca, Lohse, Martin J
Published in PLoS biology (18.08.2009)
Published in PLoS biology (18.08.2009)
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Downscaling Regional Hydrological Forecast for Operational Use in Local Early Warning: HYPE Models in the Sirba River
Massazza, Giovanni, Tarchiani, Vieri, Andersson, Jafet C. M., Ali, Abdou, Ibrahim, Mohamed Housseini, Pezzoli, Alessandro, De Filippis, Tiziana, Rocchi, Leandro, Minoungou, Bernard, Gustafsson, David, Rosso, Maurizio
Published in Water (Basel) (01.12.2020)
Published in Water (Basel) (01.12.2020)
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Journal Article
Tissue sensitivity to thyroid hormones may change over time
Radetti, Giorgio, Rigon, Franco, Salvatoni, Alessandro, Campi, Irene, De Filippis, Tiziana, Cirello, Valentina, Longhi, Silvia, Guizzardi, Fabiana, Bonomi, Marco, Persani, Luca
Published in European thyroid journal (16.02.2022)
Published in European thyroid journal (16.02.2022)
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Journal Article
8-Chloro-cyclic AMP and protein kinase A I-selective cyclic AMP analogs inhibit cancer cell growth through different mechanisms
Lucchi, Simona, Calebiro, Davide, de Filippis, Tiziana, Grassi, Elisa S, Borghi, Maria Orietta, Persani, Luca
Published in PloS one (10.06.2011)
Published in PloS one (10.06.2011)
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Journal Article
Selective Modulation of Protein Kinase A I and II Reveals Distinct Roles in Thyroid Cell Gene Expression and Growth
Calebiro, Davide, de Filippis, Tiziana, Lucchi, Simona, Martinez, Fernando, Porazzi, Patrizia, Trivellato, Roberta, Locati, Massimo, Beck-Peccoz, Paolo, Persani, Luca
Published in Molecular endocrinology (Baltimore, Md.) (01.12.2006)
Published in Molecular endocrinology (Baltimore, Md.) (01.12.2006)
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SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case
Frigerio, Marcello, Passeri, Elena, de Filippis, Tiziana, Rusconi, Daniela, Valaperta, Rea, Carminati, Mario, Donnangelo, Anita, Costa, Elena, Persani, Luca, Finelli, Palma, Corbetta, Sabrina
Published in BMC genetics (05.05.2011)
Published in BMC genetics (05.05.2011)
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Journal Article
Absence of sonic hedgehog (Shh) germline mutations in patients with thyroid dysgenesis
Muzza, Marina, Persani, Luca, Filippis, Tiziana de, Gastaldi, Roberto, Vigone, Maria Cristina, Sala, Davide, Weber, Giovanna, Lorini, Renata, Beck-Peccoz, Paolo, Fugazzola, Laura
Published in Clinical endocrinology (Oxford) (01.11.2008)
Published in Clinical endocrinology (Oxford) (01.11.2008)
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Journal Article
A frequent oligogenic involvement in congenital hypothyroidism
de Filippis, Tiziana, Gelmini, Giulia, Paraboschi, Elvezia, Vigone, Maria Cristina, Di Frenna, Marianna, Marelli, Federica, Bonomi, Marco, Cassio, Alessandra, Larizza, Daniela, Moro, Mirella, Radetti, Giorgio, Salerno, Mariacarolina, Ardissino, Diego, Weber, Giovanna, Gentilini, Davide, Guizzardi, Fabiana, Duga, Stefano, Persani, Luca
Published in Human molecular genetics (01.07.2017)
Published in Human molecular genetics (01.07.2017)
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Journal Article
Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas
Calebiro, Davide, Grassi, Elisa S, Eszlinger, Markus, Ronchi, Cristina L, Godbole, Amod, Bathon, Kerstin, Guizzardi, Fabiana, de Filippis, Tiziana, Krohn, Knut, Jaeschke, Holger, Schwarzmayr, Thomas, Bircan, Rifat, Gozu, Hulya Iliksu, Sancak, Seda, Niedziela, Marek, Strom, Tim M, Fassnacht, Martin, Persani, Luca, Paschke, Ralf
Published in The Journal of clinical investigation (01.09.2016)
Published in The Journal of clinical investigation (01.09.2016)
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