FABRIZIO BARBETTI

Associate professor


email: fabrizio.barbetti@uniroma2.it
phone: 200101




Fabrizio Barbetti is an Associate Professor of Clinical Biochemistry and Molecular Biology, Department of Experimental Medicine, University Tor Vergata, Rome, Italy and also a Senior Investigator at Bambino Gesù Pediatric Hospital, IRCCS, Rome. His research is on the monogenic forms of diabetes and hyperinsulinemic hypoglycemia pancreatic beta cell biology, focusing on neonatal and infant diabetics. He is a member of American Diabetes Association, amongst others. He has held several positions since his MD in 1977 and PhD in 1988, both obtained from the University La Sapienza, Rome. In 2009-2010, he was a visiting Associate Professor at Division of Endocrinology, Columbia University, New York, USA. Over 60 publications.


Research products

2108/307396 - 2023 - Monogenic diabetes clinic (MDC): 3-year experience
Rapini, Novella; Pampanini, Valentina; Deodati, Annalisa; Porzio, Ottavia; Cianfarani, Stefano; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: ACTA DIABETOLOGICA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 61-70 - issn: 0940-5429 - wos: WOS:000862189600001 (4) - scopus: 2-s2.0-85139230627 (3)

2108/291815 - 2022 - Sulfonylurea-insensitive permanent neonatal diabetes caused by a severe gain-of-function Tyr330His substitution in Kir6.2
Barbetti, Fabrizio; Cianfarani, Stefano - 01 - Articolo su rivista
paper: HORMONE RESEARCH IN PAEDIATRICS (Basel [etc.] : S. Karger, 2010-) pp. 215-223 - issn: 1663-2818 - wos: WOS:000868315100002 (3) - scopus: 2-s2.0-85135597369 (2)

2108/294797 - 2022 - Sulfonylurea-insensitive permanent neonatal diabetes caused by a severe gain-of-function Tyr330His substitution in Kir6.2
Rapini, Novella; Deodati, Annalisa; Barbetti, Fabrizio; Cianfarani, Stefano - 01 - Articolo su rivista
paper: HORMONE RESEARCH IN PAEDIATRICS (Basel [etc.]: S. Karger) pp. -215 - issn: 1663-2826 - wos: WOS:000868315100002 (2) - scopus: 2-s2.0-85135597369 (2)

2108/307642 - 2022 - ISPAD Clinical Practice Consensus Guidelines 2022. The diagnosis and management of monogenic diabetes in children and adolescents.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: PEDIATRIC DIABETES ([Copenhagen] : Blackwell Munksgaard, 2000-) pp. - - issn: 1399-543X - wos: WOS:000911258700005 (45) - scopus: 2-s2.0-85144293477 (50)

2108/291820 - 2022 - The application of precision medicine in monogenic diabetes
Barbetti, Fabrizio; Cianfarani, Stefano - 01 - Articolo su rivista
paper: EXPERT REVIEW OF ENDOCRINOLOGY & METABOLISM (--London, United Kingdom: Expert Reviews Ltd -London : Future Drugs, 2006-) pp. 111-129 - issn: 1744-6651 - wos: WOS:000762619400001 (8) - scopus: 2-s2.0-85126012365 (8)

2108/307398 - 2022 - Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patients
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: ACTA DIABETOLOGICA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 1113-1116 - issn: 0940-5429 - wos: WOS:000788422100001 (5) - scopus: 2-s2.0-85128916133 (4)

2108/307397 - 2022 - SGLT2i improve glycemic control in patients with congenital severe insulin resistance
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: PEDIATRICS (American Academy of Pediatrics:141 Northwest Point Boulevard:Elk Grove Village, IL 60007:(800)433-9016, (847)434-4000, EMAIL: journals@aap.org, INTERNET: http://www.aap.org, Fax: (847)434-8000) pp. - - issn: 0031-4005 - wos: WOS:000918236400024 (7) - scopus: 2-s2.0-85133980712 (10)

2108/255066 - 2021 - Long-term follow-up of glycemic and neurological outcomes in an international series of patients with sulfonylurea-treated ABCC8 permanent neonatal diabetes
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES CARE (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 35-42 - issn: 0149-5992 - wos: WOS:000600653200015 (21) - scopus: 2-s2.0-85100070636 (28)

2108/284869 - 2021 - Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy
Russo, Lucia; Grasso, Valeria; Rapini, Novella; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: EUROPEAN JOURNAL OF ENDOCRINOLOGY (Bristol: BioScientifica Oslo: Scandinavian University Press, 1994-) pp. - - issn: 0804-4643 - wos: (0) - scopus: 2-s2.0-85103228960 (14)

2108/284877 - 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
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETOLOGIA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 1703-1706 - issn: 0012-186X - wos: WOS:000650115800002 (1) - scopus: 2-s2.0-85105865704 (2)

2108/265592 - 2021 - Reduced replication fork speed promotes pancreatic endocrine differentiation and controls graft size
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: JCI INSIGHT (Ann Arbor, Michigan : American Society for Clinical Investigation, [2016]-) pp. - - issn: 2379-3708 - wos: WOS:000627368800012 (20) - scopus: 2-s2.0-85102434806 (21)

2108/254314 - 2020 - School and preschool children with type 1 diabetes during COVID-19 quarantine: the synergic effect of parental care and technology
Barbetti, Fabrizio; Deodati, Annalisa; Cianfarani, Stefano - 01 - Articolo su rivista
paper: DIABETES RESEARCH AND CLINICAL PRACTICE (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. - - issn: 0168-8227 - wos: WOS:000572845000020 (50) - scopus: 2-s2.0-85087792125 (54)

2108/258095 - 2020 - Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE JOURNAL OF MOLECULAR DIAGNOSTICS (Bethesda, MD : American Society for Investigative Pathology and the Association for Molecular Pathology, 1999-) pp. 1205-1215 - issn: 1525-1578 - wos: WOS:000569911300011 (14) - scopus: 2-s2.0-85087791154 (16)

2108/237046 - 2019 - The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: SCIENTIFIC REPORTS (London: Springer Nature London: Nature Publishing Group) pp. 14188- - issn: 2045-2322 - wos: WOS:000488481500051 (10) - scopus: 2-s2.0-85072935487 (11)

2108/237043 - 2019 - Insulin: Still a miracle after all these years
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE JOURNAL OF CLINICAL INVESTIGATION (New York, N.Y. : American Society for Clinical Investigation, 1924-) pp. 3045-3047 - issn: 1558-8238 - wos: WOS:000478076500011 (4) - scopus: 2-s2.0-85069262780 (6)

2108/237038 - 2019 - MEHMO syndrome and the link between brain, pituitary and pancreas
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: EBIOMEDICINE (Amsterdam : Elsevier) pp. 26-27 - issn: 2352-3964 - wos: WOS:000466175100013 (1) - scopus: 2-s2.0-85063745507 (2)

2108/208516 - 2018 - Genetic causes and treatment of neonatal diabetes and early childhood diabetes
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: BAILLIERE'S BEST PRACTICE & RESEARCH. CLINICAL ENDOCRINOLOGY & METABOLISM (pubblicata da: BAILLIERE TINDALL, 24-28 OVAL RD, LONDON, ENGLAND, NW1 7DX) pp. 575-591 - issn: 1521-690X - wos: WOS:000445166200015 (34) - scopus: 2-s2.0-85049340626 (35)

2108/208514 - 2018 - Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE LANCET DIABETES & ENDOCRINOLOGY (Amsterdam : Elsevier) pp. 637-646 - issn: 2213-8587 - wos: WOS:000439813900019 (103) - scopus: 2-s2.0-85047846854 (125)

2108/208512 - 2018 - b Cell Replacement after Gene Editing of a Neonatal Diabetes-Causing Mutation at the Insulin Locus
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: STEM CELL REPORTS (Amsterdam : Elsevier) pp. - - issn: 2213-6711 - wos: WOS:000452898300013 (58) - scopus: 2-s2.0-85058603177 (62)

2108/208583 - 2018 - Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing?
Grasso, Valeria; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: ACTA DIABETOLOGICA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 981-983 - issn: 0940-5429 - wos: WOS:000441445300013 (14) - scopus: 2-s2.0-85048478544 (15)

2108/208518 - 2018 - Severe insulin resistance in disguise: a familiar case of reactive hypoglycemia associated with a novel heterozygous INSR mutation
Grasso, Valeria; Sileno, Sara; Bernardini, Sergio; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: PEDIATRIC DIABETES ([Copenhagen] : Blackwell Munksgaard, 2000-) pp. 670-674 - issn: 1399-543X - wos: WOS:000432027100011 (7) - scopus: 2-s2.0-85041629666 (12)

2108/173261 - 2017 - Monogenic Diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes Centers during 2007-2012
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (-Springfield, Ill. : Charles C. Thomas -Philadelphia : J.B. Lippincott Co. -Baltimore, Md. : Issued for the Endocrine Society by the Williams & Wilkins Co. -Bethesda, MD : Endocrine Society -Chevy Chase, MD : Endocrine Society) pp. 1826-1834 - issn: 0021-972X - wos: WOS:000403139100006 (81) - scopus: 2-s2.0-85020427838 (91)

2108/237665 - 2017 - Neonatal Diabetes: permanent neonatal diabetes and transient neonatal diabetes
Barbetti, Fabrizio; Grasso, Valeria - 03 - Contributo in libro
book: Diabetes associated with single gene defects and chromosomal abnormalities - ()

2108/237711 - 2016 - Consulenza genetica e diabete
Barbetti, Fabrizio - 03 - Contributo in libro
book: Il diabete in Italia - (978-88-6923-146-9)

2108/237718 - 2016 - Non autoimmune diabetes mellitus in pediatrics
Barbetti, Fabrizio - 03 - Contributo in libro
book: Research into childhood-onset diabetes. From study design to improved management - (978-3-319-40242-0)

2108/237730 - 2016 - Quando l’iperglicemia non è diabete di tipo 1 né di tipo 2: il MODY nella pratica clinica. G Ital Diabetol Metab
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: GIDM. GIORNALE ITALIANO DI DIABETOLOGIA E METABOLISMO (Utet Periodici Scientifici, Milano) pp. - - issn: 1593-6104 - wos: (0) - scopus: (0)

2108/173259 - 2016 - Prevalence of elevated 1-h plasma glucose and its associations in obese youth.
Bernardini, Sergio; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES RESEARCH AND CLINICAL PRACTICE (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. 202-204 - issn: 0168-8227 - wos: WOS:000378073400028 (9) - scopus: 2-s2.0-84965071415 (9)

2108/173254 - 2016 - Successful treatment of young infants presenting Neonatal Diabetes Mellitus with continuous subcutaneous insulin infusion before genetic diagnosis.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: ACTA DIABETOLOGICA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 559-565 - issn: 0940-5429 - wos: WOS:000380134100006 (26) - scopus: 2-s2.0-84978920134 (28)

2108/173257 - 2016 - Hyperglucagonemia in an animal model of insulin-deficient diabetes: what therapies can improve it ?
Barbetti, Fabrizio; Bernardini, Sergio - 01 - Articolo su rivista
paper: CLINICAL DIABETES AND ENDOCRINOLOGY (London : BioMed Central, 2015-) pp. - - issn: 2055-8260 - wos: (0) - scopus: 2-s2.0-85043634065 (9)

2108/173250 - 2016 - Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: ACTA DIABETOLOGICA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 499-501 - issn: 0940-5429 - wos: WOS:000376657300018 (21) - scopus: 2-s2.0-84938632995 (25)

2108/173012 - 2015 - INS-gene mutations: from genetics and beta cell biology and clinical disease
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: MOLECULAR ASPECTS OF MEDICINE (Oxford: Elsevier Science Limited Oxford; New York: Pergamon Press 1976-) pp. 3-18 - issn: 0098-2997 - wos: WOS:000354144700002 (95) - scopus: 2-s2.0-84940009221 (109)

2108/173010 - 2015 - Loss-of-function mutations in the APPL1 gene in familial diabetes mellitus.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 177-185 - issn: 0002-9297 - wos: WOS:000358189500016 (102) - scopus: 2-s2.0-84937522764 (117)

2108/173240 - 2015 - Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: ORPHANET JOURNAL OF RARE DISEASES (London : BioMed Central) pp. 120- - issn: 1750-1172 - wos: WOS:000361721900001 (15) - scopus: 2-s2.0-84960198645 (16)

2108/173246 - 2015 - When an induced illness looks like a rare disease.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: PEDIATRICS (American Academy of Pediatrics:141 Northwest Point Boulevard:Elk Grove Village, IL 60007:(800)433-9016, (847)434-4000, EMAIL: journals@aap.org, INTERNET: http://www.aap.org, Fax: (847)434-8000) pp. 1361-1365 - issn: 0031-4005 - wos: WOS:000363969600023 (6) - scopus: 2-s2.0-84947291156 (9)

2108/237722 - 2015 - Diabete tipo 1, tipo 2 e tipo X. Ipeglicemia in età pediatrica: quale diabete ?
Barbetti, Fabrizio; Grasso, Valeria; Russo, Lucia - 01 - Articolo su rivista
paper: AREA PEDIATRICA (Roma : Il pensiero scientifico ; Milano : Società italiana di pediatria, 2013-) pp. - - issn: 2385-0736 - wos: (0) - scopus: (0)

2108/237728 - 2015 - Il MODY. Guida pratica alla diagnosi clinica e alla identificazione molecolare
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: IL DIABETE (Bologna : Bononia university press, 2014- Genova : Forum Service Editore, 2006-u013 Kurtis Editrice, Milano) pp. - - issn: 0394-901X - wos: (0) - scopus: (0)

2108/237633 - 2015 - Survey on etiological diagnosis of diabetes in 1244 Italian diabetic children and adolescents: Impact of access to genetic testing
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES RESEARCH AND CLINICAL PRACTICE (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. e15-e18 - issn: 0168-8227 - wos: WOS:000349959600002 (26) - scopus: 2-s2.0-84924119028 (27)

2108/95226 - 2014 - Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening
Barbetti, Fabrizio; De Ville De Goyet, Jean - 01 - Articolo su rivista
paper: CLINICAL ENDOCRINOLOGY (MALDEN, USA, MA: WILEY-BLACKWELL United Kingdom: Blackwell Science Limited) pp. 679-688 - issn: 0300-0664 - wos: WOS:000344176900007 (21) - scopus: 2-s2.0-84912116073 (22)

2108/95237 - 2014 - No sign of proliferatve retinopathy in 15 patients with Permanent Neonatal Diabetes Mellitus with a median diabetes duration of 24 years
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES CARE (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. - - issn: 0149-5992 - wos: WOS:000340491800007 (4) - scopus: 2-s2.0-84904972993 (6)

2108/95191 - 2014 - A possible role of transglutaminase 2 in the nucleus of INS-1E and cells of human pancreatic islets.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: JOURNAL OF PROTEOMICS () pp. - - issn: 1874-3919 - wos: WOS:000331916300025 (11) - scopus: 2-s2.0-84890317322 (13)

2108/95349 - 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
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES CARE (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. - - issn: 0149-5992 - wos: WOS:000345335200004 (34) - scopus: 2-s2.0-84911942143 (37)

2108/79807 - 2013 - Serological proteome analysis (SERPA) as a tool for the identification of new candidate autoantigens in type 1 diabetes
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: JOURNAL OF PROTEOMICS () pp. 263-273 - issn: 1874-3919 - wos: WOS:000319643300018 (23) - scopus: 2-s2.0-84877822119 (26)

2108/79810 - 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.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: PLOS ONE (San Francisco, CA : Public Library of Science) pp. - - issn: 1932-6203 - wos: WOS:000319654700185 (12) - scopus: 2-s2.0-84877157563 (13)

2108/99599 - 2013 - IGF2 methylation is associated with lipid profile in obese children
Deodati, Annalisa; Puglianiello, Antonella; Germani, Daniela; Barbetti, Fabrizio; Cianfarani, Stefano - 01 - Articolo su rivista
paper: HORMONE RESEARCH IN PAEDIATRICS (Basel [etc.] : S. Karger, 2010-) pp. 361-367 - issn: 1663-2818 - wos: WOS:000324547100006 (26) - scopus: 2-s2.0-84878929919 (27)

2108/95189 - 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.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: ACTA DIABETOLOGICA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. - - issn: 0940-5429 - wos: WOS:000327535500017 (32) - scopus: 2-s2.0-84890566933 (37)

2108/95190 - 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)
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: PLOS ONE (San Francisco, CA : Public Library of Science) pp. - - issn: 1932-6203 - wos: (0) - scopus: 2-s2.0-84893167071 (44)

2108/77711 - 2012 - Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: PEDIATRIC DIABETES ([Copenhagen] : Blackwell Munksgaard, 2000-) pp. 656-660 - issn: 1399-543X - wos: WOS:000311418600011 (25) - scopus: 2-s2.0-84870051901 (27)

2108/55348 - 2012 - Minimal Incidence of Neonatal/Infancy Onset Diabetes in Italy is 1:90,000 live births
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: ACTA DIABETOLOGICA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. - - issn: 0940-5429 - wos: WOS:000309545800012 (105) - scopus: 2-s2.0-84867988456 (124)

2108/55345 - 2012 - Impaired cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetes
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. - - issn: 0012-1797 - wos: WOS:000301959800011 (56) - scopus: 2-s2.0-84859550168 (59)

2108/55343 - 2011 - No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETOLOGIA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 2736-2738 - issn: 0012-186X - wos: WOS:000294683000029 (29) - scopus: 2-s2.0-80054097981 (30)

2108/55350 - 2011 - Prediabetes in Italian children and youngsters.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (Springer Milano: Editrice Kurtis Srl) pp. 275-280 - issn: 0391-4097 - wos: WOS:000299404800022 (3) - scopus: 2-s2.0-84856238736 (3)

2108/55341 - 2011 - Permanent diabetes during the first year of life: multiple gene screening in 54 patients
Colombo, Claudio; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETOLOGIA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 1693-1701 - issn: 0012-186X - wos: WOS:000291392000015 (49) - scopus: 2-s2.0-79959716801 (62)

2108/55342 - 2011 - Macrosomia, transient neonatal hypoglycemia and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (Springer Milano: Editrice Kurtis Srl) pp. 252-253 - issn: 0391-4097 - wos: WOS:000290823200014 (3) - scopus: 2-s2.0-79957888468 (5)

2108/55344 - 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.
De Ville De Goyet, Jean; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 209-217 - issn: 0012-1797 - wos: WOS:000286017300026 (15) - scopus: 2-s2.0-78751472528 (19)

2108/44768 - 2010 - Further evidence that mutations in INS can be a rare cause of Maturity Onset Diabetes of the Young (MODY).
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: BMC MEDICAL GENETICS (London: BioMed Central, 2000-) pp. -42 - issn: 1471-2350 - wos: WOS:000276394100001 (58) - scopus: 2-s2.0-77949449300 (71)

2108/44769 - 2010 - TRIB3 R84 variant affects glucose homeostasis by alterino the interplay between insulin sensitività and insulin secretion.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETOLOGIA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 1354-1361 - issn: 0012-186X - wos: WOS:000278118700014 (16) - scopus: 2-s2.0-77955657265 (16)

2108/44767 - 2010 - Mutant INS-gene induced diabetes of youth:proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: PLOS ONE (San Francisco, CA : Public Library of Science) pp. e13333- - issn: 1932-6203 - wos: WOS:000282748100032 (91) - scopus: 2-s2.0-78149445119 (106)

2108/45069 - 2010 - Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: PEDIATRIC DIABETES ([Copenhagen] : Blackwell Munksgaard, 2000-) pp. 47-54 - issn: 1399-543X - wos: WOS:000274188900009 (47) - scopus: 2-s2.0-77954440644 (52)

2108/44817 - 2009 - Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: Impact of low compliance to the gluten free diet
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES RESEARCH AND CLINICAL PRACTICE (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. 332-334 - issn: 0168-8227 - wos: WOS:000266763000021 (3) - scopus: 2-s2.0-67349171387 (4)

2108/44771 - 2009 - Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test
Porzio, Ottavia; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (-Springfield, Ill. : Charles C. Thomas -Philadelphia : J.B. Lippincott Co. -Baltimore, Md. : Issued for the Endocrine Society by the Williams & Wilkins Co. -Bethesda, MD : Endocrine Society -Chevy Chase, MD : Endocrine Society) pp. 4448-4452 - issn: 0021-972X - wos: WOS:000271470800042 (29) - scopus: 2-s2.0-70449116153 (32)

2108/44931 - 2009 - Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES CARE (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 123-125 - issn: 0149-5992 - wos: WOS:000262188000026 (69) - scopus: 2-s2.0-64549146740 (76)

2108/44772 - 2009 - Opposite clinical phenotypes of “glucokinase disease”: description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: MOLECULAR ENDOCRINOLOGY (Endocrine Society / Maryland:8401 Connecticut Avenue, Suite 900:Chevy Chase, MD 20815:(301)941-0200, (301)941-0200, (301)941-0232, EMAIL: journals@endo-society.org, INTERNET: http://www.endo.society.org, Fax: (301)941-0259) pp. 1983-1989 - issn: 0888-8809 - wos: WOS:000272137500006 (29) - scopus: 2-s2.0-73249114979 (28)

2108/44773 - 2009 - Mutations in hIAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood onset diabetes.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETIC MEDICINE (Blackwell Science Limited:PO Box 88, Oxford OX2 0NE United Kingdom:011 44 1865 776868, 011 44 1865 206038, EMAIL: journals.cs@blacksci.co.uk, INTERNET: http://www.blackwell-science.com, Fax: 011 44 1865 721205) pp. 660-661 - issn: 0742-3071 - wos: WOS:000266596600016 (4) - scopus: 2-s2.0-66449133539 (5)

2108/44930 - 2009 - Sexual dimorphism of body composition and insulin sensitivity across pubertal development in obese Caucasian subjects
Porzio, Ottavia; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: EUROPEAN JOURNAL OF ENDOCRINOLOGY (Bristol: BioScientifica Oslo: Scandinavian University Press, 1994-) pp. 769-775 - issn: 0804-4643 - wos: WOS:000272934500007 (53) - scopus: 2-s2.0-65549091789 (52)

2108/44770 - 2009 - Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES CARE (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 1864-1866 - issn: 0149-5992 - wos: WOS:000271004900018 (89) - scopus: 2-s2.0-70349658847 (103)

2108/45786 - 2008 - Role of the ENPP1 K121Q polymorphism on glucose homeostasis
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 3360-3364 - issn: 0012-1797 - wos: WOS:000261312800026 (31) - scopus: 2-s2.0-58149354288 (32)

2108/44775 - 2008 - The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction that is improved with sulfonylurea therapy.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (-Springfield, Ill. : Charles C. Thomas -Philadelphia : J.B. Lippincott Co. -Baltimore, Md. : Issued for the Endocrine Society by the Williams & Wilkins Co. -Bethesda, MD : Endocrine Society -Chevy Chase, MD : Endocrine Society) pp. 1054-1061 - issn: 0021-972X - wos: WOS:000253822700060 (80) - scopus: 2-s2.0-40849139200 (93)

2108/44776 - 2008 - Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus
Porzio, Ottavia; Federici, Giorgio; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE JOURNAL OF CLINICAL INVESTIGATION (American Society for Clinical Investigation:PO Box 7226:Ann Arbor, MI 48107:(734)222-6050, EMAIL: rhickman@the-jci.org, INTERNET: http://www.jci.org, Fax: (734)222-6058) pp. 2148-2156 - issn: 0021-9738 - wos: WOS:000256445100019 (182) - scopus: 2-s2.0-45749104374 (203)

2108/30425 - 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
Porzio, Ottavia; Colombo, Claudio; Terrinoni, Alessandro; Melino, Gennaro; Federici, Massimo; Federici, Giorgio; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 1150-1150 - issn: 1059-7794 - wos: (0) - scopus: 2-s2.0-36048940286 (38)

2108/44777 - 2007 - An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of DEND (Developmental Delay, Epilepsy, and Neonatal Diabetes)
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 328-336 - issn: 0012-1797 - wos: WOS:000243989600006 (76) - scopus: 2-s2.0-33847025257 (76)

2108/45335 - 2007 - Diagnosis of neonatal and infancy-onset diabetes
Barbetti, Fabrizio - 03 - Contributo in libro
book: Congenital endocrinopathies: new insights into endocrine diseases and diabetes: Workshop, Genova, January 2007 - (978-3-8055-8347-3)

2108/46229 - 2006 - Search for genetic variants in the p66 Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease.
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: BMC GENETICS (London: BioMed Central, 2000-2020) pp. 14- - issn: 1471-2156 - wos: WOS:000236374200001 (7) - scopus: 2-s2.0-33645358644 (8)

2108/46228 - 2006 - Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 1705-1712 - issn: 0012-1797 - wos: WOS:000238053400019 (52) - scopus: 2-s2.0-33748288147 (56)

2108/46227 - 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
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETOLOGIA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 2210-2213 - issn: 0012-186X - wos: WOS:000239548800029 (53) - scopus: 2-s2.0-33746738864 (62)

2108/49208 - 2005 - KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
Porzio, Ottavia; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 22-27 - issn: 1059-7794 - wos: WOS:000226018800004 (124) - scopus: 2-s2.0-19944427182 (138)

2108/228335 - 2005 - Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: NATURE MEDICINE (Nature America Incorporated:345 Park Avenue South, 6th Floor:New York, NY 10010:(888)331-6288, EMAIL: institutions@natureny.com, INTERNET: http://www.nature.com, Fax: (212)689-9108) pp. 765-773 - issn: 1078-8956 - wos: WOS:000230304200033 (180) - scopus: 2-s2.0-22544482628 (179)

2108/228339 - 2005 - Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE JOURNAL OF BIOLOGICAL CHEMISTRY (American Society for Biochemistry and Molecular Biology:9650 Rockville Pike:Bethesda, MD 20814:(301)530-7145, EMAIL: asbmb@asbmb.faseb.org, INTERNET: http://www.faseb.org/asbmb, Fax: (301)571-1824) pp. 14105-14113 - issn: 0021-9258 - wos: WOS:000228095500113 (83) - scopus: 2-s2.0-20244377376 (89)

2108/228337 - 2005 - Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation
Colombo, Carlo; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETOLOGIA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 2439-2441 - issn: 0012-186X - wos: WOS:000233248200034 (36) - scopus: 2-s2.0-27744546143 (39)

2108/228329 - 2002 - The second activating glucokinase mutation (A456V): Implications for glucose homeostasis and diabetes therapy
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 1240-1246 - issn: 0012-1797 - wos: WOS:000174737500048 (140) - scopus: 2-s2.0-0036227541 (147)

2108/228331 - 2002 - Permanent diabetes mellitus in the first year of life
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETOLOGIA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 798-804 - issn: 0012-186X - wos: WOS:000177731400006 (111) - scopus: 2-s2.0-3042637568 (143)

2108/228333 - 2002 - The genetic abnormality in the beta cell determines the response to an oral glucose load
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETOLOGIA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 427-435 - issn: 0012-186X - wos: WOS:000174805300015 (190) - scopus: 2-s2.0-0036210337 (229)

2108/50079 - 2002 - Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient
Bernassola, Francesca; Federici, Massimo; Corazzari, Marco; Terrinoni, Alessandro; Hribal, Marta Letizia; Ranalli, Marco; Barbetti, Fabrizio; Melino, Gennaro - 01 - Articolo su rivista
paper: THE FASEB JOURNAL (Federation of American Societies for Experimental Biology (FASEB):9650 Rockville Pike, Room L-2310:Bethesda, MD 20814:(800)433-2732, (301)530-7027, EMAIL: staff@dues.faseb.org, INTERNET: http://www.faseb.org, Fax: (301)571-5728, (301)530-7001) pp. 1371-1378 - issn: 0892-6638 - wos: WOS:000178441800011 (94) - scopus: 2-s2.0-0036720319 (102)

2108/228327 - 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
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: AMERICAN JOURNAL OF KIDNEY DISEASES (New York N.Y.: Grune & Stratton, ©1981-) pp. 397-402 - issn: 0272-6386 - wos: WOS:000177129800022 (50) - scopus: 2-s2.0-0036329071 (65)

2108/228322 - 2001 - Neonatal diabetes mellitus due to complete glucokinase deficiency
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE NEW ENGLAND JOURNAL OF MEDICINE (Boston: Massachusetts Medical Society) pp. 1588-1592 - issn: 0028-4793 - wos: WOS:000168829700004 (313) - scopus: 2-s2.0-0342902204 (368)

2108/228325 - 2001 - High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETOLOGIA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 898-905 - issn: 0012-186X - wos: WOS:000169748800014 (110) - scopus: 2-s2.0-0034947265 (124)

2108/228320 - 2000 - MODY 2 presenting as neonatal hyperglycaemia: A need to reshape the definition of 'neonatal diabetes'? [2]
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETOLOGIA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 1331-1332 - issn: 0012-186X - wos: WOS:000089927800017 (44) - scopus: 2-s2.0-0033791170 (45)

2108/228317 - 2000 - Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in caucasians
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (-Springfield, Ill. : Charles C. Thomas -Philadelphia : J.B. Lippincott Co. -Baltimore, Md. : Issued for the Endocrine Society by the Williams & Wilkins Co. -Bethesda, MD : Endocrine Society -Chevy Chase, MD : Endocrine Society) pp. 1323-1326 - issn: 0021-972X - wos: WOS:000088387000070 (41) - scopus: 2-s2.0-0034454416 (55)

2108/228313 - 1999 - Mutational analysis of the coding regions of the genes encoding protein kinase B-α and -β, phosphoinositide-dependent protein kinase-1, phosphatase targeting to glycogen, protein phosphatase inhibitor-1, and glycogenin: Lessons from a search for genetic variability of the insulin-stimulated glycogen synthesis pathway of skeletal muscle in NIDDM patients
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 403-407 - issn: 0012-1797 - wos: WOS:000078253600025 (10) - scopus: 2-s2.0-0032896978 (14)

2108/228315 - 1999 - Role of proline 193 in the insulin receptor post-translational processing
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETOLOGIA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 435-442 - issn: 0012-186X - wos: WOS:000079427100006 (4) - scopus: 2-s2.0-0033054610 (5)

2108/228309 - 1998 - Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 136- - issn: 1059-7794 - wos: (0) - scopus: 2-s2.0-0032222726 (25)

2108/228311 - 1998 - Increased OB gene expression leads to elevated plasma leptin concetrations in patients with chronic primary hyperinsulinemia
D'adamo, Monica; Barbetti, Fabrizio; Sbraccia, Paolo - 01 - Articolo su rivista
paper: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. - - issn: 0012-1797 - wos: (0) - scopus: 2-s2.0-0031665979 (28)

2108/228305 - 1996 - Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. 197-200 - issn: 0141-8955 - wos: WOS:A1996UJ35400025 (0) - scopus: 2-s2.0-0029871394 (0)

2108/228303 - 1996 - Pathophysiology of non-insulin-dependent diabetes and the search for candidate genes: Dangerous liaisons?
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: ACTA DIABETOLOGICA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 257-262 - issn: 0940-5429 - wos: WOS:A1996WH41200004 (2) - scopus: 2-s2.0-0030447576 (2)

2108/228307 - 1996 - The human skeletal muscle glycogenin gene: cDNA, tissue expression, and chromosomal localization
Barbetti, Fabrizio; Sbraccia, Paolo - 01 - Articolo su rivista
paper: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (San Diego [etc.]: Elsevier [etc.]) pp. 72-77 - issn: 0006-291X - wos: WOS:A1996UA75700014 (20) - scopus: 2-s2.0-0029984663 (17)

2108/228297 - 1994 - Deletion of exon 3 of the insulin receptor gene in a kindred with a familial form of insulin resistance
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (-Springfield, Ill. : Charles C. Thomas -Philadelphia : J.B. Lippincott Co. -Baltimore, Md. : Issued for the Endocrine Society by the Williams & Wilkins Co. -Bethesda, MD : Endocrine Society -Chevy Chase, MD : Endocrine Society) pp. 1153-1158 - issn: 0021-972X - wos: WOS:A1994NK24100029 (14) - scopus: 2-s2.0-84995816115 (18)

2108/228301 - 1994 - Two mutations in a conserved structural motif in the insulin receptor inhibit normal folding and intracellular transport of the receptor
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE JOURNAL OF BIOLOGICAL CHEMISTRY (American Society for Biochemistry and Molecular Biology:9650 Rockville Pike:Bethesda, MD 20814:(301)530-7145, EMAIL: asbmb@asbmb.faseb.org, INTERNET: http://www.faseb.org/asbmb, Fax: (301)571-1824) pp. 7587-7592 - issn: 0021-9258 - wos: WOS:A1994NA03200087 (21) - scopus: 2-s2.0-0028308567 (20)

2108/228260 - 1993 - Substitution of leu for pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: HUMAN MOLECULAR GENETICS (Oxford University Press:Journals Department, Great Clarendon Street, Oxford OX2 6DP United Kingdom:011 44 1865 556767, EMAIL: jnlorders@oup.co.uk, INTERNET: http://www.oup.co.uk, Fax: 011 44 1865 267485) pp. 1437-1441 - issn: 0964-6906 - wos: WOS:A1993LX49700015 (20) - scopus: 2-s2.0-0027304532 (21)

2108/228279 - 1992 - Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 408-415 - issn: 0012-1797 - wos: WOS:A1992HK69200002 (44) - scopus: 2-s2.0-0026755127 (49)

2108/228283 - 1992 - MUTATIONS IN THE INSULIN-RECEPTOR GENE
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: ENDOCRINE REVIEWS (Endocrine Society / Maryland:8401 Connecticut Avenue, Suite 900:Chevy Chase, MD 20815:(301)941-0200, (301)941-0200, (301)941-0232, EMAIL: journals@endo-society.org, INTERNET: http://www.endo.society.org, Fax: (301)941-0259) pp. 566-595 - issn: 0163-769X - wos: WOS:A1992JK74200010 (260) - scopus: 2-s2.0-0026761432 (293)

2108/228295 - 1992 - Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: JOURNAL OF INVESTIGATIVE DERMATOLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 77S-81S-S81 - issn: 0022-202X - wos: WOS:A1992HX76400015 (16) - scopus: 2-s2.0-0026578917 (23)

2108/228281 - 1992 - Insulin resistance due to mutations of the insulin receptor gene: An overview
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (Springer Milano: Editrice Kurtis Srl) pp. 857-864 - issn: 0391-4097 - wos: WOS:A1992KG65800013 (27) - scopus: 2-s2.0-0027095849 (32)

2108/228275 - 1991 - Normal coding sequence of insulin gene in Pima Indians and Nauruans, two groups with highest prevalence of type II diabetes
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 118-122 - issn: 0012-1797 - wos: WOS:A1991EN92900017 (23) - scopus: 2-s2.0-0025970666 (22)

2108/228273 - 1991 - Genetic basis of endocrine disease 1 molecular genetics of insulin resistant diabetes mellitus
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (-Springfield, Ill. : Charles C. Thomas -Philadelphia : J.B. Lippincott Co. -Baltimore, Md. : Issued for the Endocrine Society by the Williams & Wilkins Co. -Bethesda, MD : Endocrine Society -Chevy Chase, MD : Endocrine Society) pp. 1158-1163 - issn: 0021-972X - wos: WOS:A1991GW87900002 (58) - scopus: 2-s2.0-0025791997 (60)

2108/228269 - 1990 - Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: Identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (Baltimore, MD : Endocrine Society) pp. 164-169 - issn: 1945-7197 - wos: WOS:A1990DP37000028 (33) - scopus: 2-s2.0-0025314601 (35)

2108/228271 - 1990 - Growth hormone does not inhibit its own secretion during prolonged hypoglycemia in man
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (-Springfield, Ill. : Charles C. Thomas -Philadelphia : J.B. Lippincott Co. -Baltimore, Md. : Issued for the Endocrine Society by the Williams & Wilkins Co. -Bethesda, MD : Endocrine Society -Chevy Chase, MD : Endocrine Society) pp. 1371-1374 - issn: 0021-972X - wos: WOS:A1990DC73800023 (10) - scopus: 2-s2.0-0025274392 (8)

2108/228267 - 1989 - Syndromes of autoimmunity and hypoglycemia. Autoantibodies directed against insulin and its receptor
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA (Elsevier B.V. Philadelphia: W.B. Saunders, ©1987-) pp. 123-143 - issn: 0889-8529 - wos: (0) - scopus: 2-s2.0-0024577159 (87)

2108/228265 - 1988 - Fecal Lactate and Ulcerative Colitis
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: GASTROENTEROLOGY (USA: Elsevier Philadelphia, PA: W B Saunders Company) pp. 1564-1568 - issn: 0016-5085 - wos: (0) - scopus: 2-s2.0-0024211668 (215)

2108/228263 - 1987 - Dose-response effect of somatostatin-14 on human basal pancreatic hormones
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: PANCREAS (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 551-556 - issn: 0885-3177 - wos: (0) - scopus: 2-s2.0-0023481672 (8)

2108/237622 - 1987 - High incidence of empty sella in long-term hypothyroidism|Elevata frequenza di sella vuota negli ipotiroidismi di lunga durata
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: MINERVA ENDOCRINOLOGICA (Torino: Minerva Medica) pp. 273-280 - issn: 0391-1977 - wos: (0) - scopus: 2-s2.0-0023425643 (1)

2108/237620 - 1985 - Amniotic membrane chambers for pancreatic islet transplantation: The diffusion patterns of glucose and insulin
Barbetti, Fabrizio - 01 - Articolo su rivista
paper: TRANSPLANTATION PROCEEDINGS (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 146-147 - issn: 0041-1345 - wos: (0) - scopus: 2-s2.0-0022358749 (0)

2108/95218 - 1982 - Effects of somatostatin on established induced ketosis
Barbetti, Fabrizio; Spallone, Vincenza; Gambardella, Sergio - 01 - Articolo su rivista
paper: HORMONE AND METABOLIC RESEARCH (Stuttgart Germany: Georg Thieme Verlag Stuttgart) pp. 512-515 - issn: 0018-5043 - wos: (0) - scopus: 2-s2.0-0019944148 (3)

2108/237618 - 1979 - Effects of somatostatin on insulin and glucagon in patients with insulinoma
Gambardella, Sergio; Barbetti, Fabrizio - 01 - Articolo su rivista
paper: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (Springer Milano: Editrice Kurtis Srl) pp. 257-260 - issn: 0391-4097 - wos: (0) - scopus: 2-s2.0-0018715745 (7)

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