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Fabrizio Barbetti
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Meeting Abstracts

1264-P: Distinguishing between Obese Patients with Type 1 Diabetes (T1DMob) and Type 2 Diabetes in Adolescence (T2DMad) at Presentation

FABRIZIO BARBETTI, RICCARDO BONFANTI, MAURIZIO DELVECCHIO, DARIO IAFUSCO, DIABETES STUDY GROUP OF ISPED
Journal: Diabetes
Diabetes 2020;69(Supplement_1):1264-P
https://doi.org/10.2337/db20-1264-P
Published: 01 June 2020
View article titled, 1264-P: Distinguishing between Obese Patients with Type 1 Diabetes (T1DMob) and Type 2 Diabetes in Adolescence (T2DMad) at Presentation
Meeting Abstracts

1636-P: Transient Neonatal Diabetes: Clinical Differences between Patients Bearing KATP Mutations and 6q24 Defects May Guide Genetic Screening

FABRIZIO BARBETTI, RICCARDO BONFANTI, IVANA RABBONE, PETRA REINSTADLER, CARLA BIZZARRI, DARIO IAFUSCO
Journal: Diabetes
Diabetes 2020;69(Supplement_1):1636-P
https://doi.org/10.2337/db20-1636-P
Published: 01 June 2020
View article titled, 1636-P: Transient Neonatal Diabetes: Clinical Differences between Patients Bearing KATP Mutations and 6q24 Defects May Guide Genetic Screening
Meeting Abstracts

1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel

HAICHEN ZHANG, KRISTIN A. MALONEY, FABRIZIO BARBETTI, SIRI ATMA W. GREELEY, JARNO L.T. KETTUNEN, JOSÉ P. MIRANDA, UYENLINH L. MIRSHAHI, JANNE MOLNES, RINKI MURPHY, ROCHELLE N. NAYLOR, RUTH E. PAKYZ, LOUIS H. PHILIPSON, SABRINA PRUDENTE, TIINAMAIJA TUOMI, MIRIAM UDLER, KEVIN COLCLOUGH, LINDA JENG, TONI I. POLLIN
Journal: Diabetes
Diabetes 2020;69(Supplement_1):1453-P
https://doi.org/10.2337/db20-1453-P
Published: 01 June 2020
View article titled, 1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel
Journal Articles

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

Ming Liu, Roberto Lara-Lemus, Shu-ou Shan, Jordan Wright, Leena Haataja, Fabrizio Barbetti, Huan Guo, Dennis Larkin, Peter Arvan
Journal: Diabetes
Diabetes 2012;61(4):828–837
https://doi.org/10.2337/db11-0878
Published: 14 March 2012
View article titled, Impaired Cleavage of Preproinsulin Signal Peptide Linked to Autosomal-Dominant Diabetes
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Journal Articles

Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation: KATP Channel Inactivation Mechanism and Clinical Management

Karen J. Loechner, Alejandro Akrouh, Harley T. Kurata, Carlo Dionisi-Vici, Arianna Maiorana, Milena Pizzoferro, Vittoria Rufini, Jean de Ville de Goyet, Carlo Colombo, Fabrizio Barbetti, Joseph C. Koster, Colin G. Nichols
Journal: Diabetes
Diabetes 2011;60(1):209–217
https://doi.org/10.2337/db10-0731
Published: 27 October 2010
View article titled, Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (<em>KCNJ11</em>) Mutation V290M Mutation: <subtitle>K<sub>ATP</sub> Channel Inactivation Mechanism and Clinical Management</subtitle>
Open the PDF for Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (<em>KCNJ11</em>) Mutation V290M Mutation: <subtitle>K<sub>ATP</sub> Channel Inactivation Mechanism and Clinical Management</subtitle> in another window
Journal Articles

Role of the ENPP1 K121Q Polymorphism in Glucose Homeostasis

Roberto Baratta, Paola Rossetti, Sabrina Prudente, Fabrizio Barbetti, Dora Sudano, Angela Nigro, Maria Grazia Farina, Fabio Pellegrini, Vincenzo Trischitta, Lucia Frittitta
Journal: Diabetes
Diabetes 2008;57(12):3360–3364
https://doi.org/10.2337/db07-1830
Published: 01 December 2008
View article titled, Role of the <em>ENPP1</em> K121Q Polymorphism in Glucose Homeostasis
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Includes: Supplementary data
Journal Articles

An ATP-Binding Mutation (G334D) in KCNJ11 Is Associated With a Sulfonylurea-Insensitive Form of Developmental Delay, Epilepsy, and Neonatal Diabetes

Ricard Masia, Joseph C. Koster, Stefano Tumini, Francesco Chiarelli, Carlo Colombo, Colin G. Nichols, Fabrizio Barbetti
Journal: Diabetes
Diabetes 2007;56(2):328–336
https://doi.org/10.2337/db06-1275
Published: 01 February 2007
View article titled, An ATP-Binding Mutation (G334D) in <em>KCNJ11</em> Is Associated With a Sulfonylurea-Insensitive Form of Developmental Delay, Epilepsy, and Neonatal Diabetes
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Journal Articles

Mutations at the Same Residue (R50) of Kir6.2 (KCNJ11) That Cause Neonatal Diabetes Produce Different Functional Effects

Kenju Shimomura, Christophe A.J. Girard, Peter Proks, Joanna Nazim, Jonathan D. Lippiat, Franco Cerutti, Renata Lorini, Sian Ellard, Andrew T. Hattersley, Fabrizio Barbetti, Frances M. Ashcroft
Journal: Diabetes
Diabetes 2006;55(6):1705–1712
https://doi.org/10.2337/db05-1640
Published: 01 June 2006
View article titled, Mutations at the Same Residue (R50) of Kir6.2 (<em>KCNJ11</em>) That Cause Neonatal Diabetes Produce Different Functional Effects
Open the PDF for Mutations at the Same Residue (R50) of Kir6.2 (<em>KCNJ11</em>) That Cause Neonatal Diabetes Produce Different Functional Effects in another window
Journal Articles

The Second Activating Glucokinase Mutation (A456V): Implications for Glucose Homeostasis and Diabetes Therapy

Henrik B.T. Christesen, Bendt B. Jacobsen, Stella Odili, Carol Buettger, Antonio Cuesta-Munoz, Torben Hansen, Klaus Brusgaard, Ornella Massa, Mark A. Magnuson, Chiyo Shiota, Franz M. Matschinsky, Fabrizio Barbetti
Journal: Diabetes
Diabetes 2002;51(4):1240–1246
https://doi.org/10.2337/diabetes.51.4.1240
Published: 01 April 2002
View article titled, The Second Activating Glucokinase Mutation (A456V): <subtitle>Implications for Glucose Homeostasis and Diabetes Therapy </subtitle>
Open the PDF for The Second Activating Glucokinase Mutation (A456V): <subtitle>Implications for Glucose Homeostasis and Diabetes Therapy </subtitle> in another window
Journal Articles

Detection of Mutations in Insulin Receptor Gene by Denaturing Gradient Gel Electrophoresis

Fabrizio Barbetti, Pablo V Gejman, Simeon I Taylor, Nina Raben, Alessandro Cama, Enzo Bonora, Paolo Pizzo, Paolo Moghetti, Michele Muggeo, Jesse Roth
Journal: Diabetes
Diabetes 1992;41(4):408–415
https://doi.org/10.2337/diab.41.4.408
Published: 01 April 1992
View article titled, Detection of Mutations in Insulin Receptor Gene by Denaturing Gradient Gel Electrophoresis
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Journal Articles

Normal Coding Sequence of Insulin Gene in Pima Indians and Nauruans, Two Groups With Highest Prevalence of Type II Diabetes

Nina Raben, Fabrizio Barbetti, Alessandro Cama, Maxine A Lesniak, Stephen Lillioja, Paul Zimmet, Sue W Serjeantson, Simeon I Taylor, Jesse Roth
Journal: Diabetes
Diabetes 1991;40(1):118–122
https://doi.org/10.2337/diab.40.1.118
Published: 01 January 1991
View article titled, Normal Coding Sequence of Insulin Gene in Pima Indians and Nauruans, Two Groups With Highest Prevalence of Type II Diabetes
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