檢索結果 - Fabrizio Barbetti
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An ATP-Binding Mutation (G334D) in <i>KCNJ11</i> Is Associated With a Sulfonylurea-Insensitive Form of Developmental Delay, Epilepsy, and Neonatal Diabetes 由 Ricard Masia, Joseph C. Koster, Stefano Tumini, Francesco Chiarelli, Carlo Colombo, Colin G. Nichols, Fabrizio Barbetti
出版 2007Artigo -
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Mutant INS-Gene Induced Diabetes of Youth: Proinsulin Cysteine Residues Impose Dominant-Negative Inhibition on Wild-Type Proinsulin Transport 由 Ming Liu, Leena Haataja, J. J. Wright, Nalinda P. Wickramasinghe, Qing‐xin Hua, Nelson F. B. Phillips, Fabrizio Barbetti, Michael A. Weiss, Peter Arvan
出版 2010Artigo -
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School and pre-school children with type 1 diabetes during Covid-19 quarantine: The synergic effect of parental care and technology 由 Riccardo Schiaffini, Fabrizio Barbetti, Novella Rapini, Elena Inzaghi, Annalisa Deodati, Ippolita Patrizia Patera, Maria Cristina Matteoli, Paolo Ciampalini, Chiara Carducci, Antonella Lorubbio, Gabriele Schiaffini, Stefano Cianfarani
出版 2020Artigo -
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Permanent neonatal diabetes-causing insulin mutations have dominant negative effects on beta cell identity 由 Yuwei Zhang, Lina Sui, Qian Du, Leena Haataja, Yishu Yin, Ryan Viola, Shuangyi Xu, Christian Ulrik Nielsson, Rudolph L. Leibel, Fabrizio Barbetti, Peter Arvan, Dieter Egli
出版 2024Artigo -
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Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia: 由 Renata Lorini, Catherine Klersy, Giuseppe d’Annunzio, Ornella Massa, Nicola Minuto, Dario Iafusco, Christine Bellanné‐Chantelot, Anna Paola Frongia, Sonia Toni, Franco Meschi, Fránco Cerutti, Fabrizio Barbetti
出版 2009Artigo -
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ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents 由 Siri Atma W. Greeley, Michel Polak, Pål R. Njølstad, Fabrizio Barbetti, Rachel M. Williams, Luís Castaño, Klemens Raile, Dũng Chí Vũ, Abdelhadi Habeb, Andrew T. Hattersley, Ethel Codner
出版 2022Artigo -
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High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI 由 Antonio L. Cuesta‐Muñoz, Andrea Caumo, F Cerutti, Sonia Toni, N. Sulli, Franz M. Matschinsky, Fabrizio Barbetti, Valentino Cherubini, Laura Guazzarotti, Ornella Massa, Franco Meschi, Renata Lorini, Dario Iafusco
出版 2001Artigo -
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Further evidence that mutations in INScan be a rare cause of Maturity-Onset Diabetes of the Young (MODY) 由 Trine Welløv Boesgaard, Štěpánka Průhová, Ehm A. Andersson, Ondřej Cinek, Barbora Obermannová, Jeannet Lauenborg, Peter Damm, Regine Bergholdt, Flemming Pociot, Charlotta Pisinger, Fabrizio Barbetti, Jan Lebl, Oluf Pedersen, Torben Hansen
出版 2010Artigo -
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The genetic abnormality in the beta cell determines the response to an oral glucose load 由 Amanda Stride, Martine Vaxillaire, Jaakko Tuomilehto, Fabrizio Barbetti, Pål R. Njølstad, Torben Hansen, Andréa Miúra da Costa, Ignacio Conget, Oluf Pedersen, O. Søvik, Renata Lorini, Leif Groop, Philippe Froguel, Andrew T. Hattersley
出版 2002Artigo -
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Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births 由 Dario Iafusco, Ornella Massa, B Pasquino, Carlo Colombo, Lorenzo Iughetti, Carla Bizzarri, Corrado Mammì, D. Lo Presti, Tosca Suprani, Riccardo Schiaffini, Colin G. Nichols, L. Russo, V. Grasso, Franco Meschi, Riccardo Bonfanti, Sonia Brescianini, Fabrizio Barbetti
出版 2011Artigo -
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<i>KCNJ11</i>activating mutations in Italian patients with permanent neonatal diabetes 由 Ornella Massa, Dario Iafusco, Elena D’Amato, Anna L. Gloyn, Andrew T. Hattersley, B Pasquino, Giuseppe Tonini, Francesco Dammacco, Giorgio Zanette, Franco Meschi, Ottavia Porzio, GianFranco Bottazzo, Antonino Crinò, Renata Lorini, Fránco Cerutti, Maurizio Vanelli, Fabrizio Barbetti
出版 2004Artigo
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Maturity onset diabetes of the young
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