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Fabrizio Barbetti

Showing results (71-80 of 88) with videos related to

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Hormone Research in Paediatrics|January 9, 2022
Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2Conor McClenaghan, Novella Rapini, Domenico Umberto De Rose, et al.
Diabetes Care|July 26, 2014
No sign of proliferative retinopathy in 15 patients with permanent neonatal diabetes with a median diabetes duration of 24 yearsDario Iafusco, Silvana Salardi, Giovanni Chiari, et al.
Acta Diabetologica|April 28, 2022
Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patientsSabrina Prudente, Francesco Andreozzi, Luana Mercuri, et al.
Human Mutation|December 8, 2004
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetesOrnella Massa, Dario Iafusco, Elena D'Amato, et al.
JCI Insight|June 9, 2025
Neonatal diabetes-associated missense PDX1 variant disrupts chromatin association and protein-protein interactionXiaodun Yang, Angela Zanfardino, Riccardo Schiaffini, et al.
The Journal of Clinical Investigation|May 3, 2008
Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitusCarlo Colombo, Ottavia Porzio, Ming Liu, et al.
Diabetes Care|November 22, 2014
Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospitalMaurizio Delvecchio, Ornella Ludovico, Claudia Menzaghi, et al.
JCI Insight|February 2, 2021
Reduced replication fork speed promotes pancreatic endocrine differentiation and controls graft sizeLina Sui, Yurong Xin, Qian Du, et al.
Diabetes Care|November 13, 2020
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated <i>ABCC8</i> Permanent Neonatal DiabetesPamela Bowman, Frances Mathews, Fabrizio Barbetti, et al.
Molecular Endocrinology (Baltimore, Md.)|November 4, 2009
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) geneFabrizio Barbetti, Nadia Cobo-Vuilleumier, Carlo Dionisi-Vici, et al.
Pageof 9

Showing results (71-80 of 88) with videos related to

Sort By:
Pageof 9
Hormone Research in Paediatrics|January 9, 2022
Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2Conor McClenaghan, Novella Rapini, Domenico Umberto De Rose, et al.
Diabetes Care|July 26, 2014
No sign of proliferative retinopathy in 15 patients with permanent neonatal diabetes with a median diabetes duration of 24 yearsDario Iafusco, Silvana Salardi, Giovanni Chiari, et al.
Acta Diabetologica|April 28, 2022
Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patientsSabrina Prudente, Francesco Andreozzi, Luana Mercuri, et al.
Human Mutation|December 8, 2004
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetesOrnella Massa, Dario Iafusco, Elena D'Amato, et al.
JCI Insight|June 9, 2025
Neonatal diabetes-associated missense PDX1 variant disrupts chromatin association and protein-protein interactionXiaodun Yang, Angela Zanfardino, Riccardo Schiaffini, et al.
The Journal of Clinical Investigation|May 3, 2008
Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitusCarlo Colombo, Ottavia Porzio, Ming Liu, et al.
Diabetes Care|November 22, 2014
Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospitalMaurizio Delvecchio, Ornella Ludovico, Claudia Menzaghi, et al.
JCI Insight|February 2, 2021
Reduced replication fork speed promotes pancreatic endocrine differentiation and controls graft sizeLina Sui, Yurong Xin, Qian Du, et al.
Diabetes Care|November 13, 2020
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated <i>ABCC8</i> Permanent Neonatal DiabetesPamela Bowman, Frances Mathews, Fabrizio Barbetti, et al.
Molecular Endocrinology (Baltimore, Md.)|November 4, 2009
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) geneFabrizio Barbetti, Nadia Cobo-Vuilleumier, Carlo Dionisi-Vici, et al.
Pageof 9