1979 …2019

Research output per year

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Research Output

  • 104 Article
  • 3 Review article
  • 1 Conference contribution
2019

Insulin: still a miracle after all these years

Barbetti, F. & Taylor, S. I., Jul 2 2019, In : Journal of Clinical Investigation. 130

Research output: Contribution to journalArticle

2018

Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing?

Delvecchio, M., Salzano, G., Bonura, C., Cauvin, V., Cherubini, V., d'Annunzio, G., Franzese, A., Giglio, S., Grasso, V., Graziani, V., Iafusco, D., Iughetti, L., Lera, R., Maffeis, C., Maltoni, G., Mantovani, V., Menzaghi, C., Patera, P. I., Rabbone, I., Reindstadler, P. & 8 others, Scelfo, S., Tinto, N., Toni, S., Tumini, S., Lombardo, F., Nicolucci, A., Barbetti, F. & Pedi, D. S. G. I. S., Sep 1 2018, In : Acta Diabetologica. 55, 9, p. 981-983 3 p.

Research output: Contribution to journalArticle

Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing?

Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED), Sep 2018, In : Acta Diabetologica. 55, 9, p. 981-983 3 p.

Research output: Contribution to journalArticle

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

Neonatal Diabetes International Collaborative Group, Aug 2018, In : The Lancet Diabetes and Endocrinology. 6, 8, p. 637-646 10 p.

Research output: Contribution to journalArticle

Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation

Innaurato, S., Brierley, G. V., Grasso, V., Massimi, A., Gaudino, R., Sileno, S., Bernardini, S., Semple, R. & Barbetti, F., Jun 2018, In : Pediatric Diabetes. 19, 4, p. 670-674 5 p.

Research output: Contribution to journalArticle

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

Ma, S., Viola, R., Sui, L., Cherubini, V., Barbetti, F. & Egli, D., Nov 20 2018, In : Stem Cell Reports. 8 p.

Research output: Contribution to journalArticle

2017

Insulin therapy in neonatal diabetes mellitus: a review of the literature

Rabbone, I., Barbetti, F., Gentilella, R., Mossetto, G., Bonfanti, R., Maffeis, C., Iafusco, D. & Piccinno, E., Jul 1 2017, In : Diabetes Research and Clinical Practice. 129, p. 126-135 10 p.

Research output: Contribution to journalReview article

Insulin therapy in neonatal diabetes mellitus: a review of the literature

Rabbone, I., Barbetti, F., Gentilella, R., Mossetto, G., Bonfanti, R., Maffeis, C., Iafusco, D. & Piccinno, E., 2017, In : Diabetes Research and Clinical Practice. 129, 5, p. 126-135 10 p.

Research output: Contribution to journalArticle

Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012

Delvecchio, M., Mozzillo, E., Salzano, G., Iafusco, D., Frontino, G., Patera, P. I., Rabbone, I., Cherubini, V., Grasso, V., Tinto, N., Giglio, S., Contreas, G., Di Paola, R., Salina, A., Cauvin, V., Tumini, S., D'Annunzio, G., Iughetti, L., Mantovani, V., Maltoni, G. & 3 others, Toni, S., Marigliano, M. & Barbetti, F., Jun 1 2017, In : Journal of Clinical Endocrinology and Metabolism. 102, 6, p. 1826-1834 9 p.

Research output: Contribution to journalArticle

Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012

Delvecchio, M., Mozzillo, E., Salzano, G., Iafusco, D., Frontino, G., Patera, P. I., Rabbone, I., Cherubini, V., Grasso, V., Tinto, N., Giglio, S., Contreas, G., Di Paola, R., Salina, A., Cauvin, V., Tumini, S., D'Annunzio, G., Iughetti, L., Mantovani, V., Maltoni, G. & 3 others, Toni, S., Marigliano, M. & Barbetti, F., Jun 1 2017, In : Journal of Clinical Endocrinology and Metabolism. 102, 6, p. 1826-1834 9 p.

Research output: Contribution to journalArticle

2016

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

Ortolani, F., Piccinno, E., Grasso, V., Papadia, F., Panzeca, R., Cortese, C., Felappi, B., Tummolo, A., Vendemiale, M. & Barbetti, F., Jun 2016, In : Acta Diabetologica. 53, 3, p. 499-501 3 p.

Research output: Contribution to journalArticle

Prevalence of elevated 1-h plasma glucose and its associations in obese youth

Fintini, D., Cappa, M., Brufani, C., Bernardini, S. & Barbetti, F., Jun 1 2016, In : Diabetes Research and Clinical Practice. 116, p. 202-204 3 p.

Research output: Contribution to journalArticle

Quando l’iperglicemia non è né diabete di tipo 1 né di tipo 2: Il MODY nella pratica clinica

Translated title of the contribution: When hyperglycemia is neither diabetes type 1 nor 2: MODY in clinical practiceCostantini, S., Contreas, G., Barbetti, F. & Maffeis, C., Sep 1 2016, In : Giornale Italiano di Diabetologia e Metabolismo. 36, 3, p. 155-162 8 p.

Research output: Contribution to journalReview article

Successful treatment of young infants presenting neonatal diabetes mellitus with continuous subcutaneous insulin infusion before genetic diagnosis

Rabbone, I., Barbetti, F., Marigliano, M., Bonfanti, R., Piccinno, E., Ortolani, F., Ignaccolo, G., Maffeis, C., Confetto, S., Cerutti, F., Zanfardino, A. & Iafusco, D., Aug 1 2016, In : Acta Diabetologica. 53, 4, p. 559-565 7 p.

Research output: Contribution to journalArticle

Successful treatment of young infants presenting neonatal diabetes mellitus with continuous subcutaneous insulin infusion before genetic diagnosis

Rabbone, I., Barbetti, F., Marigliano, M., Bonfanti, R., Piccinno, E., Ortolani, F., Ignaccolo, G., Maffeis, C., Confetto, S., Cerutti, F., Zanfardino, A. & Iafusco, D., Aug 1 2016, In : Acta Diabetologica. 53, 4, p. 559-565 7 p.

Research output: Contribution to journalArticle

2015

Case report: When an induced illness looks like a rare disease

Rabbone, I., Galderisi, A., Tinti, D., Ignaccolo, M. G., Barbetti, F. & Cerutti, F., Nov 1 2015, In : Pediatrics. 136, 5, p. e1361-e1365

Research output: Contribution to journalArticle

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

Ortolani, F., Piccinno, E., Grasso, V., Papadia, F., Panzeca, R., Cortese, C., Felappi, B., Tummolo, A., Vendemiale, M. & Barbetti, F., Aug 4 2015, (Accepted/In press) In : Acta Diabetologica.

Research output: Contribution to journalArticle

INS-gene mutations: From genetics and beta cell biology to clinical disease

Liu, M., Sun, J., Cui, J., Chen, W., Guo, H., Barbetti, F. & Arvan, P., Apr 1 2015, In : Molecular Aspects of Medicine. 42, p. 3-18 16 p.

Research output: Contribution to journalArticle

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

Maiorana, A., Manganozzi, L., Barbetti, F., Bernabei, S., Gallo, G., Cusmai, R., Caviglia, S. & Dionisi-Vici, C., Sep 24 2015, In : Orphanet Journal of Rare Diseases. 10, 1, 120.

Research output: Contribution to journalArticle

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

Prudente, S., Jungtrakoon, P., Marucci, A., Ludovico, O., Buranasupkajorn, P., Mazza, T., Hastings, T., Milano, T., Morini, E., Mercuri, L., Bailetti, D., Mendonca, C., Alberico, F., Basile, G., Romani, M., Miccinilli, E., Pizzuti, A., Carella, M., Barbetti, F., Pascarella, S. & 4 others, Marchetti, P., Trischitta, V., Di Paola, R. & Doria, A., 2015, In : American Journal of Human Genetics. 97, 1, p. 177-185 9 p.

Research output: Contribution to journalArticle

Survey on etiological diagnosis of diabetes in 1244 Italian diabetic children and adolescents: Impact of access to genetic testing

Mozzillo, E., Salzano, G., Barbetti, F., Maffeis, C., Lombardo, F., Franzese, A., Delvecchio, M. & Marigliano, M., Mar 1 2015, In : Diabetes Research and Clinical Practice. 107, 3, p. e15-e18

Research output: Contribution to journalArticle

2014

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

Sileno, S., D'Oria, V., Stucchi, R., Massimo, A., Petrini, S., Bonetto, V., Maechler, P., Bertuzzi, F., Grasso, V., Paolella, K., Barbetti, F. & Massa, O., Jan 16 2014, In : Journal of Proteomics. 96, p. 314-327 14 p.

Research output: Contribution to journalArticle

Focal congenital hyperinsulinism managed by medical treatment: A diagnostic algorithm based on molecular genetic screening

Maiorana, A., Barbetti, F., Boiani, A., Rufini, V., Pizzoferro, M., Francalanci, P., Faletra, F., Nichols, C. G., Grimaldi, C., De Ville De Goyet, J., Rahier, J., Henquin, J. C. & Dionisi-Vici, C., Nov 1 2014, In : Clinical Endocrinology. 81, 5, p. 679-688 10 p.

Research output: Contribution to journalArticle

No sign of proliferative retinopathy in 15 patients with permanent neonatal diabetes with a median diabetes duration of 24 years

Iafusco, D., Salardi, S., Chiari, G., Toni, S., Rabbone, I., Pesavento, R., Pasquino, B., De Benedictis, A., Maltoni, G., Colombo, C., Russo, L., Massa, O., Sudano, M., Cadario, F., Porta, M. & Barbetti, F., 2014, In : Diabetes Care. 37, 8

Research output: Contribution to journalArticle

Síndrome de insulinorresistencia severa tipo A debido a mutación del gen del receptor de insulina

Translated title of the contribution: Severe type A insulin resistance syndrome due to a mutation in the insulin receptorgeneRos, P., Colino-Alcol, E., Grasso, V., Barbetti, F. & Argente, J., 2014, In : Anales de Pediatria. 82, 1, p. e30-e34

Research output: Contribution to journalArticle

2013

GCK mutation in a child with maturity onset diabetes of the young, type 2

Noorian, S., Sayarifard, F., Farhadi, E., Barbetti, F. & Rezaei, N., Apr 2013, In : Iranian Journal of Pediatrics. 23, 2, p. 226-228 3 p.

Research output: Contribution to journalArticle

Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: A seven-item clinical flowchart (7-iF)

Pinelli, M., Acquaviva, F., Barbetti, F., Caredda, E., Cocozza, S., Delvecchio, M., Mozzillo, E., Pirozzi, D., Prisco, F., Rabbone, I., Sacchetti, L., Tinto, N., Toni, S., Zucchini, S., Iafusco, D., Biagioni, M., Carloni, I., Cester, A. M., Cherubini, V., Giorgetti, C. & 79 others, Iannilli, A., Bruzzese, M., Mammì, F., Guasti, M., Lenzi, L., Pepe, R., Piccini, B., Benelli, M., Cadario, F., Calcaterra, V., Cerutti, F., Sicignano, S., Mammì, C., Lazzaro, N., Comberiati, P., Scaramuzza, A., Zuccotti, G., Redaelli, F., Gallo, F., Cappa, M., Patera, P., Schiaffini, R., Cardella, F., Salvo, C., De Marco, R., Chessa, M., Frongia, P., Ricciardi, M. R., Ripoli, C., Zedda, M. A., Citriniti, F., Chiarelli, F., Tumini, S., Coccioli, M. S., De Berardinis, F., Santoro, E., De Luca, F., Lombardo, F., Salzano, G., Felappi, B., Prandi, E., Frezza, E., Piccinno, E., Torelli, C., Zecchino, C., Galderisi, A., Monciotti, C., Ingletto, D., Kaufmann, P., Pasquino, B., Lera, R., Lucchesi, S., Perrotta, A., Salardi, S., Scipioni, M., Luceri, S., Stamati, F., Pianese, L., Tomaselli, L., Vergerio, A., Casaburo, F., Cocca, A., Confetto, S., Forgione, E., Pelliccia, C., Picariello, S., Pisani, F., Piscopo, A., Villano, P., Zanfardino, A., Buono, P., Franzese, A., Nugnes, R., Valerio, G., Maffeis, C., Marigliano, M., Chiari, G., Iovene, B. & Vanelli, M., Nov 11 2013, In : PLoS One. 8, 11, e79933.

Research output: Contribution to journalArticle

IGF2 methylation is associated with lipid profile in obese children

Deodati, A., Inzaghi, E., Liguori, A., Puglianiello, A., Germani, D., Brufani, C., Fintini, D., Cappa, M., Barbetti, F. & Cianfarani, S., Jul 2013, In : Hormone Research in Paediatrics. 79, 6, p. 361-367 7 p.

Research output: Contribution to journalArticle

Serological Proteome Analysis (SERPA) as a tool for the identification of new candidate autoantigens in type 1 diabetes

Massa, O., Alessio, M., Russo, L., Nardo, G., Bonetto, V., Bertuzzi, F., Paladini, A., Iafusco, D., Patera, P., Federici, G., Not, T., Tiberti, C., Bonfanti, R. & Barbetti, F., Apr 6 2013, In : Journal of Proteomics. 82, p. 263-273 11 p.

Research output: Contribution to journalArticle

Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

Grasso, V., Colombo, C., Favalli, V., Galderisi, A., Rabbone, I., Gombos, S., Bonora, E., Massa, O., Meschi, F., Cerutti, F., Iafusco, D., Bonfanti, R., Monciotti, C. & Barbetti, F., Dec 2013, In : Acta Diabetologica. 50, 6, p. 951-957 7 p.

Research output: Contribution to journalArticle

2012

Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation

Battaglia, D., Lin, Y. W., Brogna, C., Crinò, A., Grasso, V., Mozzi, A. F., Russo, L., Spera, S., Colombo, C., Ricci, S., Nichols, C. G., Mercuri, E. & Barbetti, F., Dec 2012, In : Pediatric Diabetes. 13, 8, p. 656-660 5 p.

Research output: Contribution to journalArticle

Impaired cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetes

Liu, M., Lara-Lemus, R., Shan, S. O., Wright, J., Haataja, L., Barbetti, F., Guo, H., Larkin, D. & Arvan, P., Apr 2012, In : Diabetes. 61, 4, p. 828-837 10 p.

Research output: Contribution to journalArticle

Minimal incidence of neonatal/infancy onset diabetes in Italy is 1: 90,000 live births

Iafusco, D., Massa, O., Pasquino, B., Colombo, C., Iughetti, L., Bizzarri, C., Mammì, C., Lo Presti, D., Suprani, T., Schiaffini, R., Nichols, C. G., Russo, L., Grasso, V., Meschi, F., Bonfanti, R., Brescianini, S. & Barbetti, F., Oct 2012, In : Acta Diabetologica. 49, 5, p. 405-408 4 p.

Research output: Contribution to journalArticle

Sulfonylurea-responsive neonatal diabetes mellitus diagnosed through molecular genetics in two children and in one adult after a long period of insulin treatment

Fanciullo, L., Iovane, B., Gkliati, D., Monti, G., Sponzilli, I., Cangelosi, A. M., Matrorilli, C., Chiari, G., Barbetti, F., Dall'Aglio, E. & Vanelli, M., 2012, In : Acta Biomedica. 83, 1, p. 56-61 6 p.

Research output: Contribution to journalArticle

2011

Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K ATP channel inactivation mechanism and clinical management

Loechner, K. J., Akrouh, A., Kurata, H. T., Dionisi-Vici, C., Maiorana, A., Pizzoferro, M., Rufini, V., De Ville De Goyet, J., Colombo, C., Barbetti, F., Koster, J. C. & Nichols, C. G., Jan 2011, In : Diabetes. 60, 1, p. 209-217 9 p.

Research output: Contribution to journalArticle

Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene

Colombo, C., Geraci, C., Suprani, T., Pocecco, M. & Barbetti, F., Mar 2011, In : Journal of Endocrinological Investigation. 34, 3, p. 252-253 2 p.

Research output: Contribution to journalArticle

No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes

Iafusco, D., Bizzarri, C., Cadario, F., Pesavento, R., Tonini, G., Tumini, S., Cauvin, V., Colombo, C., Bonfanti, R. & Barbetti, F., Oct 2011, In : Diabetologia. 54, 10, p. 2736-2738 3 p.

Research output: Contribution to journalArticle

Permanent diabetes during the first year of life: Multiple gene screening in 54 patients

Russo, L., Iafusco, D., Brescianini, S., Nocerino, V., Bizzarri, C., Toni, S., Cerutti, F., Monciotti, C., Pesavento, R., Iughetti, L., Bernardini, L., Bonfanti, R., Gargantini, L., Vanelli, M., Aguilar-Bryan, L., Stazi, M. A., Grasso, V., Colombo, C. & Barbetti, F., Jul 2011, In : Diabetologia. 54, 7, p. 1693-1701 9 p.

Research output: Contribution to journalArticle

Pre-diabetes in Italian obese children and youngsters

Brufani, C., Fintini, D., Ciampalini, P., Nocerino, V., Crea, F., Giannone, G., Patera, P. I., Valerio, G., Cappa, M. & Barbetti, F., Oct 2011, In : Journal of Endocrinological Investigation. 34, 9 SUPPL.

Research output: Contribution to journalArticle

2010

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)

Boesgaard, T. W., Pruhova, S., Andersson, E. A., Cinek, O., Obermannova, B., Lauenborg, J., Damm, P., Bergholdt, R., Pociot, F., Pisinger, C., Barbetti, F., Lebl, J., Pedersen, O. & Hansen, T., Mar 12 2010, In : BMC Medical Genetics. 11, 1, 42.

Research output: Contribution to journalArticle

Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy

Brufani, C., Ciampalini, P., Grossi, A., Fiori, R., Fintini, D., Tozzi, A., Cappa, M. & Barbetti, F., Feb 2010, In : Pediatric Diabetes. 11, 1, p. 47-54 8 p.

Research output: Contribution to journalArticle

Mutant INS-Gene induced diabetes of youth: Proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport

Liu, M., Haataja, L., Wright, J., Wickramasinghe, N. P., Hua, Q. X., Phillips, N. F., Barbetti, F., Weiss, M. A. & Arvan, P., 2010, In : PLoS One. 5, 10, e13333.

Research output: Contribution to journalArticle

TRIB3 R84 variant affects glucose homeostasis by altering the interplay between insulin sensitivity and secretion

Prudente, S., Baratta, R., Andreozzi, F., Morini, E., Farina, M. G., Nigro, A., Copetti, M., Pellegrini, F., Succurro, E., Di Pietrantonio, L., Brufani, C., Barbetti, F., Dallapiccola, B., Sesti, G., Trischitta, V. & Frittitta, L., Jul 2010, In : Diabetologia. 53, 7, p. 1354-1361 8 p.

Research output: Contribution to journalArticle

2009

Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies

Bonfanti, R., Colombo, C., Nocerino, V., Massa, O., Lampasona, V., Iafusco, D., Viscardi, M., Chiumello, G., Meschi, F. & Barbetti, F., Jan 2009, In : Diabetes Care. 32, 1, p. 123-125 3 p.

Research output: Contribution to journalArticle