MEHMO syndrome and the link between brain, pituitary and pancreas

por Maghnie, Mohamad, Barbetti, Fabrizio
Publicado 2019

Editorial: Monogenic diabetes: from genetics and cell biology to clinical practice

por Ding, Li, Barbetti, Fabrizio, Liu, Ming
Publicado 2022

GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2

por Noorian, Shahab, Sayarifard, Fatemeh, Farhadi, Elham, Barbetti, Fabrizio, Rezaei, Nima
Publicado 2013

β Cell Replacement after Gene Editing of a Neonatal Diabetes-Causing Mutation at the Insulin Locus

por Ma, Shuangyu, Viola, Ryan, Sui, Lina, Cherubini, Valentino, Barbetti, Fabrizio, Egli, Dieter
Publicado 2018

Metabolic Syndrome in Italian Obese Children and Adolescents: Stronger Association with Central Fat Depot than with Insulin Sensitivity and Birth Weight

por Brufani, Claudia, Fintini, Danilo, Giordano, Ugo, Tozzi, Alberto Enrico, Barbetti, Fabrizio, Cappa, Marco
Publicado 2011

Hyperglucagonemia in an animal model of insulin- deficient diabetes: what therapy can improve it?

por Barbetti, Fabrizio, Colombo, Carlo, Haataja, Leena, Cras-Méneur, Corentin, Bernardini, Sergio, Arvan, Peter
Publicado 2016

Search for genetic variants in the p66(Shc )longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease

por Sentinelli, Federica, Romeo, Stefano, Barbetti, Fabrizio, Berni, Andrea, Filippi, Emanuela, Fanelli, Marzia, Fallarino, Mara, Baroni, Marco G
Publicado 2006

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage

por Maiorana, Arianna, Manganozzi, Lucilla, Barbetti, Fabrizio, Bernabei, Silvia, Gallo, Giorgia, Cusmai, Raffaella, Caviglia, Stefania, Dionisi-Vici, Carlo
Publicado 2015

Case report: Better late than never, but sooner is better: switch from CSII to sulfonylureas in two patients with neonatal diabetes due to KCNJ11 variants

por Mancioppi, Valentina, Pozzi, Erica, Zanetta, Sara, Missineo, Anna, Savastio, Silvia, Barbetti, Fabrizio, Mellone, Simona, Giordano, Mara, Rabbone, Ivana
Publicado 2023

Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between K(ATP) Gain o...

por Lin, Yu-Wen, Li, Anlong, Grasso, Valeria, Battaglia, Domenica, Crinò, Antonino, Colombo, Carlo, Barbetti, Fabrizio, Nichols, Colin G.
Publicado 2013

Insulin Gene Mutations as Cause of Diabetes in Children Negative for Five Type 1 Diabetes Autoantibodies

por Bonfanti, Riccardo, Colombo, Carlo, Nocerino, Valentina, Massa, Ornella, Lampasona, Vito, Iafusco, Dario, Viscardi, Matteo, Chiumello, Giuseppe, Meschi, Franco, Barbetti, Fabrizio
Publicado 2009

Impaired Cleavage of Preproinsulin Signal Peptide Linked to Autosomal-Dominant Diabetes

por Liu, Ming, Lara-Lemus, Roberto, Shan, Shu-ou, Wright, Jordan, Haataja, Leena, Barbetti, Fabrizio, Guo, Huan, Larkin, Dennis, Arvan, Peter
Publicado 2012

Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment

por Ortolani, Federica, Piccinno, Elvira, Grasso, Valeria, Papadia, Francesco, Panzeca, Rossana, Cortese, Claudio, Felappi, Barbara, Tummolo, Albina, Vendemiale, Marcella, Barbetti, Fabrizio
Publicado 2015

Role of the ENPP1 K121Q Polymorphism in Glucose Homeostasis

por Baratta, Roberto, Rossetti, Paola, Prudente, Sabrina, Barbetti, Fabrizio, Sudano, Dora, Nigro, Angela, Farina, Maria Grazia, Pellegrini, Fabio, Trischitta, Vincenzo, Frittitta, Lucia
Publicado 2008

Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation

por Fredheim, Siri, Svensson, Jannet, Pørksen, Sven, Hansen, Lars, Hansen, Torben, Pedersen, Oluf Borbye, Mortensen, Henrik Bindesbøl, Barbetti, Fabrizio, Nielsen, Lotte Brøndum
Publicado 2011

Mutant INS-Gene Induced Diabetes of Youth: Proinsulin Cysteine Residues Impose Dominant-Negative Inhibition on Wild-Type Proinsulin Transport

por Liu, Ming, Haataja, Leena, Wright, Jordan, Wickramasinghe, Nalinda P., Hua, Qing-Xin, Phillips, Nelson F., Barbetti, Fabrizio, Weiss, Michael A., Arvan, Peter
Publicado 2010

Correction: Mutant INS-Gene Induced Diabetes of Youth: Proinsulin Cysteine Residues Impose Dominant-Negative Inhibition on Wild-Type Proinsulin Transport

por Liu, Ming, Haataja, Leena, Wright, Jordan, Wickramasinghe, Nalinda P., Hua, Qing-Xin, Phillips, Nelson F., Barbetti, Fabrizio, Weiss, Michael A., Arvan, Peter
Publicado 2010

Case report: coeliac disease as a cause of secondary failure of glibenclamide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation

por Iafusco, Dario, Zanfardino, Angela, Piscopo, Alessia, Casaburo, Francesca, De Nigris, Angelica, Alfiero, Salvatore, Russo, Giuseppina, Arenella, Mattia, Russo, Maria Cecilia, Barbetti, Fabrizio
Publicado 2021

A possible role of transglutaminase 2 in the nucleus of INS-1E and of cells of human pancreatic islets

por Sileno, Sara, D'Oria, Valentina, Stucchi, Riccardo, Alessio, Massimo, Petrini, Stefania, Bonetto, Valentina, Maechler, Pierre, Bertuzzi, Federico, Grasso, Valeria, Paolella, Katia, Barbetti, Fabrizio, Massa, Ornella
Publicado 2014

ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

por Greeley, Siri Atma W., Polak, Michel, Njølstad, Pål R., Barbetti, Fabrizio, Williams, Rachel, Castano, Luis, Raile, Klemens, Chi, Dung Vu, Habeb, Abdelhadi, Hattersley, Andrew T., Codner, Ethel
Publicado 2022