Fabrizio Barbetti

Qualifica
ASSOCIATO CONFERMATO
Fonte dei dati: Archivio della Ricerca http://art.torvergata.it
  1. Sui, L., Xin, Y., Du, Q., Georgieva, D., Diedenhofen, G., Haataja, L., et al. (2021). Reduced replication fork speed promotes pancreatic endocrine differentiation and controls graft size. JCI INSIGHT. Dettagli
  2. Bowman, P., Mathews, F., Barbetti, F., Sheperd, M., Sanchez, J., Piccini, B., et al. (2021). Long-term follow-up of glycemic and neurological outcomes in an international series of patients with sulfonylurea-treated ABCC8 permanent neonatal diabetes. DIABETES CARE, 44(1), 35-42. Dettagli
  3. Bonfanti, R., Iafusco, D., Rabbone, I., Diedenhofen, G., Bizzarri, C., Patera, P., et al. (2021). Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy. EUROPEAN JOURNAL OF ENDOCRINOLOGY. Dettagli
  4. Iafusco, D., Zanfardino, A., Piscopo, A., Casaburo, F., De Nigris, A., Alfiero, S., et al. (2021). Case report: coeliac disease as a cause of secondary failure of glyburide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation. DIABETOLOGIA, 64(7), 1703-1706. Dettagli
  5. L, M., S, L., A, P., D, P., E, M., G, B., et al. (2020). Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity. THE JOURNAL OF MOLECULAR DIAGNOSTICS, 22(9), 1205-1215. Dettagli
  6. Schiaffini, R., Barbetti, F., Rapini, N., Inzaghi, E., Deodati, A., Patera, I., et al. (2020). School and preschool children with type 1 diabetes during COVID-19 quarantine: the synergic effect of parental care and technology. DIABETES RESEARCH AND CLINICAL PRACTICE, 166. Dettagli
  7. Barbetti, F., & Taylor, S.I. (2019). Insulin: Still a miracle after all these years. THE JOURNAL OF CLINICAL INVESTIGATION, 129(8), 3045-3047. Dettagli
  8. Maghnie, M., & Barbetti, F. (2019). MEHMO syndrome and the link between brain, pituitary and pancreas. EBIOMEDICINE, 42, 26-27 [10.1016/j.ebiom.2019.03.086]. Dettagli
  9. Mascolo, E., Barile, A., Mecarelli, L.S., Amoroso, N., Merigliano, C., Massimi, A., et al. (2019). The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity. SCIENTIFIC REPORTS, 9(1), 14188 [10.1038/s41598-019-50673-4]. Dettagli
  10. Ma, S., Viola, R., Sui, L., Cherubini, V., Barbetti, F., & Egli, D. (2018). b Cell Replacement after Gene Editing of a Neonatal Diabetes-Causing Mutation at the Insulin Locus. STEM CELL REPORTS [10.1016/j.stemcr.2018.11.006]. Dettagli
  11. Delvecchio, M., Salzano, G., Bonura, C., Cauvin, V., Cherubini, V., D’Annunzio, G., et al. (2018). Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing?. ACTA DIABETOLOGICA, 55(9), 981-983 [10.1007/s00592-018-1179-y]. Dettagli
  12. Barbetti, F., & D'Annunzio, G. (2018). Genetic causes and treatment of neonatal diabetes and early childhood diabetes. BAILLIERE'S BEST PRACTICE & RESEARCH. CLINICAL ENDOCRINOLOGY & METABOLISM, 32(4), 575-591. Dettagli
  13. Bowman, P., Sulen, A., Barbetti, F., Beltrand, J., Svalastoga, P., Codner, E., et al. (2018). Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. THE LANCET DIABETES & ENDOCRINOLOGY, 6, 637-646 [10.1016/S2213-8587(18)30106-2]. Dettagli
  14. Innaurato, S., Brierley, G., Grasso, V., Massimi, A., Gaudino, R., Sileno, S., et al. (2018). Severe insulin resistance in disguise: a familiar case of reactive hypoglycemia associated with a novel heterozygous INSR mutation. PEDIATRIC DIABETES, 19(4), 670-674. Dettagli
  15. Barbetti, F., Mammì, C., Liu, M., Grasso, V., Arvan, P., Remedi, M., et al. (2017). Neonatal Diabetes: permanent neonatal diabetes and transient neonatal diabetes. In L.G. F. Barbetti (a cura di), Diabetes associated with single gene defects and chromosomal abnormalities. S Karger AG, Basel, Switzerland. Dettagli
  16. Delvecchio, M., Mozzillo, E., Salzano, G., Iafusco, D., Frontino, G., Patera, P., et al. (2017). Monogenic Diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes Centers during 2007-2012. THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM, 102(6), 1826-1834. Dettagli
  17. Barbetti, F., Buzzetti, R., Cerutti, F., Copetti, M., Dauriz, M., Penno, G., et al. (2016). Consulenza genetica e diabete. In Il diabete in Italia (pp. 135-142). Bononia University Press. Dettagli
  18. Barbetti, F., Colombo, C., Hataaja, L., Bernardini, S., & Arvan, P. (2016). Hyperglucagonemia in an animal model of insulin-deficient diabetes: what therapies can improve it ?. CLINICAL DIABETES AND ENDOCRINOLOGY [10.1186/s40842-016-0029-5]. Dettagli
  19. Costantini, S., Contreas, G., Barbetti, F., & Maffeis, C. (2016). Quando l’iperglicemia non è diabete di tipo 1 né di tipo 2: il MODY nella pratica clinica. G Ital Diabetol Metab. GIDM. GIORNALE ITALIANO DI DIABETOLOGIA E METABOLISMO. Dettagli
  20. Fintini, D., Cappa, M., Brufani, C., Bernardini, S., & Barbetti, F. (2016). Prevalence of elevated 1-h plasma glucose and its associations in obese youth. DIABETES RESEARCH AND CLINICAL PRACTICE, 116, 202-204 [10.1016/j.diabres.2016.04.045]. Dettagli
  21. Iafusco, D., Confetto, S., Zanfardino, A., Piscopo, A., Casaburo, F., Cocca, A., et al. (2016). Non autoimmune diabetes mellitus in pediatrics. In Research into childhood-onset diabetes. From study design to improved management (pp. 137-146). Springer eBook. Dettagli
  22. Ortolani, F., Piccinno, E., Grasso, V., Papadia, F., Panzeca, R., Cortese, C., et al. (2016). Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment. ACTA DIABETOLOGICA, 53(3), 499-501. Dettagli
  23. Rabbone, I., Barbetti, F., Marigliano, M., Bonfanti, R., Piccinno, E., Ortoloani, F., et al. (2016). Successful treatment of young infants presenting Neonatal Diabetes Mellitus with continuous subcutaneous insulin infusion before genetic diagnosis. ACTA DIABETOLOGICA, 53(4), 559-565 [10.1007/s00592-015-0828-7]. Dettagli
  24. Barbetti, F. (2015). Il MODY. Guida pratica alla diagnosi clinica e alla identificazione molecolare. IL DIABETE. Dettagli
  25. Iafusco, D., Barbetti, F., Massimi, A., Grasso, V., Rabbone, I., Casaburo, F., et al. (2015). Diabete tipo 1, tipo 2 e tipo X. Ipeglicemia in età pediatrica: quale diabete ?. AREA PEDIATRICA. Dettagli
  26. Liu, M., Sun, J., Cui, J., Chen, W., Guo, H., BARBETTI, F., et al. (2015). INS-gene mutations: from genetics and beta cell biology and clinical disease. MOLECULAR ASPECTS OF MEDICINE, 42, 3-18 [10.1016/j.mam.2014.12.001]. Dettagli
  27. Maiorana, A., Manganozzi, L., BARBETTI, F., Bernabei, S., Gallo, G., Cusmai, R., et al. (2015). Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage. ORPHANET JOURNAL OF RARE DISEASES, 10, 120 [10.1186/s13023-015-0342-6]. Dettagli
  28. Mozzillo, E., Salzano, G., Barbetti, F., Maffeis, C., Lombardo, F., Franzese, A., et al. (2015). Survey on etiological diagnosis of diabetes in 1244 Italian diabetic children and adolescents: Impact of access to genetic testing. DIABETES RESEARCH AND CLINICAL PRACTICE, 107(3), e15-e18 [10.1016/j.diabres.2015.01.003]. Dettagli
  29. Prudente, S., Jungtrakoon, P., Marucci, A., Ludovico, O., Buranasupkajorn, P., Mazza, T., et al. (2015). Loss-of-function mutations in the APPL1 gene in familial diabetes mellitus. AMERICAN JOURNAL OF HUMAN GENETICS, 97, 177-185 [10.1016/j.ajhg.2015.05.011]. Dettagli
  30. Rabbone, I., Galderisi, A., Tinti, D., Ignaccolo, M., BARBETTI, F., & Cerutti, F. (2015). When an induced illness looks like a rare disease. PEDIATRICS, 136(5), 1361-1365 [10.1542/peds.2014-4165]. Dettagli
  31. Maiorana, A., BARBETTI, F., Boiani, A., Rufini, V., Pizzoferro, M., Francalanci, P., et al. (2014). Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening. CLINICAL ENDOCRINOLOGY, 81(5), 679-688. Dettagli
  32. Iafusco, D., Salardi, S., Chiari, G., Toni, S., Rabbone, I., Pesavento, R., et al. (2014). No sign of proliferatve retinopathy in 15 patients with Permanent Neonatal Diabetes Mellitus with a median diabetes duration of 24 years. DIABETES CARE. Dettagli
  33. Sileno, S., D’Oria, V., Stucchi, R., Alessio, M., Petrini, S., Bonetto, V., et al. (2014). A possible role of transglutaminase 2 in the nucleus of INS-1E and cells of human pancreatic islets. JOURNAL OF PROTEOMICS. Dettagli
  34. Delvecchio, M., Ludovico, O., Menzaghi, C., Di Paola, R., Zelante, L., Marucci, A., et al. (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 hospital. DIABETES CARE. Dettagli
  35. Grasso, V., Colombo, C., Favalli, V., Galderisi, A., Rabbone, I., Gombos, S., et al. (2013). Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor. Is it a Barterr-like syndrome a feature of congenital SIR. ACTA DIABETOLOGICA. Dettagli
  36. Pinelli, M., Acquaviva, F., Barbetti, F., Caredda, E., Cocozza, S., Delvecchio, M., et al. (2013). Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flow-chart (7-iF). PLOS ONE. Dettagli
  37. Deodati, A., Inzaghi, E., Liguori, A., Puglianiello, A., Germani, D., Brufani, C., et al. (2013). IGF2 methylation is associated with lipid profile in obese children. HORMONE RESEARCH IN PAEDIATRICS, 79(6), 361-367 [10.1159/000351707]. Dettagli
  38. Lin, Y., Li, A., Grasso, V., Battaglia, D., Crinò, A., Colombo, C., et al. (2013). Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with early onset diabetes and a mild form of intermediate DEND: a battle between KATP gain of channel activity and loss of channel expression. PLOS ONE, 8(5) [10.1371/journal.pone.0063758]. Dettagli
  39. Massa, O., Alessio, M., Russo, L., Nardo, G., Bonetto, V., Bertuzzi, F., et al. (2013). Serological proteome analysis (SERPA) as a tool for the identification of new candidate autoantigens in type 1 diabetes. JOURNAL OF PROTEOMICS, 82, 263-273 [10.1016/j.jprot.2013.02.030]. Dettagli
  40. Battaglia, D., Lin, Y., Brogna, C., Crinò, A., Grasso, V., Mozzi, A.F., et al. (2012). Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation. PEDIATRIC DIABETES, 13, 656-660 [10.1111/j.1399-5448.2012.00874.x]. Dettagli
  41. Iafusco D, M.O. (2012). Minimal Incidence of Neonatal/Infancy Onset Diabetes in Italy is 1:90,000 live births. ACTA DIABETOLOGICA. Dettagli
  42. Liu M, L.R. (2012). Impaired cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetes. DIABETES. Dettagli
  43. Brufani C, F.D. (2011). Prediabetes in Italian children and youngsters. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 34, 275-280. Dettagli
  44. Colombo, C., Geraci, C., Suprani, T., Pocecco, M., & Barbetti F (2011). Macrosomia, transient neonatal hypoglycemia and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 34, 252-253. Dettagli
  45. Iafusco D, B.C. (2011). No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes. DIABETOLOGIA, 54(10), 2736-2738. Dettagli
  46. Loechner, K.J., Akrouh, A., Kurata, H.T., Dionisi-Vici, C., Maiorana, A., Pizzoferro, M., et al. (2011). Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation. KATP channel inactivation mechanism and clinical management. DIABETES, 60, 209-217. Dettagli
  47. Russo, L., Iafusco, D., Brescianini, S., Nocerino, V., Bizzarri, C., Toni, S., et al. (2011). Permanent diabetes during the first year of life: multiple gene screening in 54 patients. DIABETOLOGIA, 54(7), 1693-1701 [10.1007/s00125-011-2094-8]. Dettagli
  48. Boesgaard, T.W., Pruhova, S., Andersson, E.A., Cinek, O., Obermannova, B., Lauenborg, J., et al. (2010). Further evidence that mutations in INS can be a rare cause of Maturity Onset Diabetes of the Young (MODY). BMC MEDICAL GENETICS, 42. Dettagli
  49. Brufani C, C.P. (2010). Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy. PEDIATRIC DIABETES, 11, 47-54. Dettagli
  50. Liu, M., Haataja, L., Wright, J., Wickramasinghe, D.N., Hua, Q., Phillips, N.F., et al. (2010). Mutant INS-gene induced diabetes of youth:proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport. PLOS ONE, 5, e13333. Dettagli
  51. Prudente, S., Baratta, R., Andreozzi, F., Morini, E., Farina, M.G., Nigro, A., et al. (2010). TRIB3 R84 variant affects glucose homeostasis by alterino the interplay between insulin sensitività and insulin secretion. DIABETOLOGIA, 53, 1354-1361. Dettagli
  52. Barbetti, F., Cobo-Vuilleumier, N., Dionisi-Vici, C., Toni, S., Ciampalini, P., Massa, O., et al. (2009). Opposite clinical phenotypes of “glucokinase disease”: description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. MOLECULAR ENDOCRINOLOGY, 23, 1983-1989. Dettagli
  53. Bonfanti R, C.C. (2009). Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies. DIABETES CARE, 32, 123-125. Dettagli
  54. Brufani C, T.A. (2009). Sexual dimorphism of body composition and insulin sensitivity across pubertal development in obese Caucasian subjects. EUROPEAN JOURNAL OF ENDOCRINOLOGY, 160, 769-775. Dettagli
  55. Brufani, C., Grossi, A., Fintini, D., Tozzi, A., Nocerino, V., Patera, P.I., et al. (2009). Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test. THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM, 94, 4448-4452. Dettagli
  56. Delvecchio M., Z.C. (2009). Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: Impact of low compliance to the gluten free diet. DIABETES RESEARCH AND CLINICAL PRACTICE, 84(3), 332-334 [10.1016/j.diabres.2009.02.024]. Dettagli
  57. Lorini, R., Klersy, C., D'Annunzio, G., Massa, O., Minuto, N., Iafusco, D., et al. (2009). Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. DIABETES CARE, 32(10), 1864-1866 [10.2337/dc08-2018]. Dettagli
  58. Nocerino, V., Colombo, C., Bonfanti, R., Iafusco, D., & Barbetti, F. (2009). Mutations in hIAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood onset diabetes. DIABETIC MEDICINE, 26, 660-661. Dettagli
  59. Baratta R, R.P. (2008). Role of the ENPP1 K121Q polymorphism on glucose homeostasis. DIABETES(57), 3360-3364. Dettagli
  60. Colombo, C., PORZIO, O., Liu, M., Massa, O., Vasta, M., Salardi, S., et al. (2008). Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. THE JOURNAL OF CLINICAL INVESTIGATION, 118, 2148-2156 [10.1172/JCI33777]. Dettagli
  61. Koster, J.C., Cadario, F., Peruzzi, C., Colombo, C., Nichols, C.G., & Barbetti, F. (2008). The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction that is improved with sulfonylurea therapy. THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM, 93, 1054-1061 [10.1210/jc.2007-1826]. Dettagli
  62. Porzio, O., Massa, O., Cunsolo, V., Colombo, C., Malaponti, M., Bertuzzi, F., et al. (2007). Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. Mutation in brief no. 982. Online. HUMAN MUTATION, 28(11), 1150-1150 [10.1002/humu.9511]. Dettagli
  63. Barbetti, F. (2007). Diagnosis of neonatal and infancy-onset diabetes, 11, 83-93. Dettagli
  64. Masia, R., Koster, J.C., Tumini, S., Chiarelli, F., Colombo, C., Nichols, C.G., et al. (2007). An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of DEND (Developmental Delay, Epilepsy, and Neonatal Diabetes). DIABETES, 56, 328-336. Dettagli
  65. Sentinelli F, R.S. (2006). Search for genetic variants in the p66 Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease. BMC GENETICS, 7, 14. Dettagli
  66. Shimomura K, G.C. (2006). Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. DIABETES, 55, 1705-1712. Dettagli
  67. Tonini G., B.C. (2006). Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene. DIABETOLOGIA, 49(9), 2210-2213 [10.1007/s00125-006-0329-x]. Dettagli
  68. Colombo, C., Delvecchio, M., Zecchino, C., Faienza, M.f., Cavallo, L., & Barbetti, F. (2005). Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. DIABETOLOGIA, 48(11), 2439-2441 [10.1007/s00125-005-1958-1]. Dettagli
  69. Foti, D., Chiefari, E., Fedele, M., Iuliano, R., Brunetti, L., Paonessa, F., et al. (2005). Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice. NATURE MEDICINE, 11(7), 765-773 [10.1038/nm1254]. Dettagli
  70. Gloyn, A.l., Odili, S., Zelent, D., Buettger, C., Castleden, H., Steele, A.m., et al. (2005). Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young. THE JOURNAL OF BIOLOGICAL CHEMISTRY, 280(14), 14105-14113 [10.1074/jbc.M413146200]. Dettagli
  71. Massa O., I.D. (2005). KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. HUMAN MUTATION, 25(1), 22-27. Dettagli
  72. Bernassola, F., Federici, M., Corazzari, M., Terrinoni, A., Hribal, M.l., De Laurenzi, V., et al. (2002). Role of transglutaminase 2 in glucose tolerance: Knockout mice studies and a putative mutation in a MODY patient, 16(11), 1371-1378 [10.1096/fj.01-0689com]. Dettagli
  73. Christesen, H., Jacobsen, B.b., Odili, S., Buettger, C., Cuesta-Munoz, A., Hansen, T., et al. (2002). The second activating glucokinase mutation (A456V): Implications for glucose homeostasis and diabetes therapy. DIABETES, 51(4), 1240-1246 [10.2337/diabetes.51.4.1240]. Dettagli
  74. Iafusco, D., Stazi, M., Cotichini, R., Cotellessa, M., Martinucci, M., Mazzella, M., et al. (2002). Permanent diabetes mellitus in the first year of life. DIABETOLOGIA, 45(6), 798-804 [10.1007/s00125-002-0837-2]. Dettagli
  75. Montoli, A., Colussi, G., Massa, O., Caccia, R., Rizzoni, G., Civati, G., et al. (2002). Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1β gene: Description of a new family with associated liver involvement. AMERICAN JOURNAL OF KIDNEY DISEASES, 40(2), 397-402 [10.1053/ajkd.2002.34538]. Dettagli
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  78. Njolstad, P.r., Sovik, O., Cuesta-Munoz, A., Bjorkhaug, L., Massa, O., Barbetti, F., et al. (2001). Neonatal diabetes mellitus due to complete glucokinase deficiency. NEW ENGLAND JOURNAL OF MEDICINE, 344(21), 1588-1592 [10.1056/NEJM200105243442104]. Dettagli
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  83. D'Adamo, M., Buongiorno, A., Maroccia, E., Leonetti, F., Barbetti, F., Giaccari, A., et al. (1998). Increased OB gene expression leads to elevated plasma leptin concetrations in patients with chronic primary hyperinsulinemia. DIABETES. Dettagli
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