2108/389654 - 2024 -
A rare cause of transient neonatal diabetes mellitus: Spontaneous HNF1B splice variant Rapini, Novella; Cianfarani, Stefano; Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: DIABETIC MEDICINE (Oxford] : Blackwell Science.) pp. - - issn: 1464-5491 - wos: WOS:001070782400001 (2) - scopus: 2-s2.0-85171426106 (2)
2108/389662 - 2024 -
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022 Rapini, Novella; Cherubini, Valeria; Cianfarani, Stefano; Bizzarri, Claudia; Giordano, Mariano; Grasso, Valeria; Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (Baltimore, MD : Endocrine Society) pp. 2349-2357 - issn: 1945-7197 - wos: WOS:001180652800001 (4) - scopus: 2-s2.0-85197737590 (4)
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
rivista: 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 (5) - scopus: 2-s2.0-85139230627 (4)
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
rivista: HORMONE RESEARCH IN PAEDIATRICS (Basel [etc.]: S. Karger) pp. 215-223 - issn: 1663-2826 - wos: WOS:000868315100002 (3) - scopus: 2-s2.0-85135597369 (3)
2108/307398 - 2022 -
Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patients Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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
rivista: 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)
2108/307642 - 2022 -
ISPAD Clinical Practice Consensus Guidelines 2022. The diagnosis and management of monogenic diabetes in children and adolescents. Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: PEDIATRIC DIABETES ([Copenhagen] : Blackwell Munksgaard, 2000-) pp. - - issn: 1399-543X - wos: WOS:000911258700005 (45) - scopus: 2-s2.0-85144293477 (52)
2108/291820 - 2022 -
The application of precision medicine in monogenic diabetes Barbetti, Fabrizio; Cianfarani, Stefano - 01 - Articolo su rivista
rivista: 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)
2108/265592 - 2021 -
Reduced replication fork speed promotes pancreatic endocrine differentiation and controls graft size Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: JCI INSIGHT (Ann Arbor, Michigan : American Society for Clinical Investigation, [2016]-) pp. - - issn: 2379-3708 - wos: WOS:000627368800012 (21) - scopus: 2-s2.0-85102434806 (22)
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
rivista: 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 (23) - scopus: 2-s2.0-85100070636 (32)
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
rivista: EUROPEAN JOURNAL OF ENDOCRINOLOGY (Bristol: BioScientifica
Oslo: Scandinavian University Press, 1994-) pp. - - issn: 0804-4643 - wos: (0) - scopus: 2-s2.0-85103228960 (15)
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
rivista: 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)
2108/254314 - 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
rivista: 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
rivista: 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
rivista: SCIENTIFIC REPORTS (London: Springer Nature
London: Nature Publishing Group) pp. 14188- - issn: 2045-2322 - wos: WOS:000488481500051 (10) - scopus: 2-s2.0-85072935487 (12)
2108/237043 - 2019 -
Insulin: Still a miracle after all these years Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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
rivista: EBIOMEDICINE (Amsterdam : Elsevier) pp. 26-27 - issn: 2352-3964 - wos: WOS:000466175100013 (1) - scopus: 2-s2.0-85063745507 (3)
2108/208516 - 2018 -
Genetic causes and treatment of neonatal diabetes and early childhood diabetes Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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
rivista: THE LANCET DIABETES & ENDOCRINOLOGY (Amsterdam : Elsevier) pp. 637-646 - issn: 2213-8587 - wos: WOS:000439813900019 (108) - scopus: 2-s2.0-85047846854 (132)
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
rivista: STEM CELL REPORTS (Amsterdam : Elsevier) pp. - - issn: 2213-6711 - wos: WOS:000452898300013 (58) - scopus: 2-s2.0-85058603177 (65)
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
rivista: 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
rivista: PEDIATRIC DIABETES ([Copenhagen] : Blackwell Munksgaard, 2000-) pp. 670-674 - issn: 1399-543X - wos: WOS:000432027100011 (7) - scopus: 2-s2.0-85041629666 (13)
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
rivista: 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 (93)
2108/237665 - 2017 -
Neonatal Diabetes: permanent neonatal diabetes and transient neonatal diabetes Barbetti, Fabrizio; Grasso, Valeria - 03 - Contributo in libro
libro: Diabetes associated with single gene defects and chromosomal abnormalities - ()
Barbetti, Fabrizio - 03 - Contributo in libro
libro: Il diabete in Italia - (978-88-6923-146-9)
2108/237718 - 2016 -
Non autoimmune diabetes mellitus in pediatrics Barbetti, Fabrizio - 03 - Contributo in libro
libro: 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
rivista: 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
rivista: 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
rivista: 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 (31)
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
rivista: 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
rivista: 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
rivista: 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 (110)
2108/173010 - 2015 -
Loss-of-function mutations in the APPL1 gene in familial diabetes mellitus. Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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 (105) - scopus: 2-s2.0-84937522764 (118)
2108/173240 - 2015 -
Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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
rivista: 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 (7) - 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
rivista: 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
rivista: 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
rivista: 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
rivista: 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
rivista: 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 (7)
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
rivista: 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
rivista: 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
rivista: 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
rivista: 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
rivista: 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
rivista: 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
rivista: 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
rivista: PEDIATRIC DIABETES ([Copenhagen] : Blackwell Munksgaard, 2000-) pp. 656-660 - issn: 1399-543X - wos: WOS:000311418600011 (25) - scopus: 2-s2.0-84870051901 (28)
2108/55348 - 2012 -
Minimal Incidence of Neonatal/Infancy Onset Diabetes in Italy is 1:90,000 live births Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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 (125)
2108/55345 - 2012 -
Impaired cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetes Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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
rivista: 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
rivista: 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
rivista: 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)
2108/55344 - 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
rivista: 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 (20)
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
rivista: 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)
2108/44768 - 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
rivista: BMC MEDICAL GENETICS (London: BioMed Central, 2000-) pp. -42 - issn: 1471-2350 - wos: WOS:000276394100001 (58) - scopus: 2-s2.0-77949449300 (71)
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
rivista: PLOS ONE (San Francisco, CA : Public Library of Science) pp. e13333- - issn: 1932-6203 - wos: WOS:000282748100032 (92) - scopus: 2-s2.0-78149445119 (106)
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
rivista: 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)
2108/45069 - 2010 -
Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: PEDIATRIC DIABETES ([Copenhagen] : Blackwell Munksgaard, 2000-) pp. 47-54 - issn: 1399-543X - wos: WOS:000274188900009 (47) - scopus: 2-s2.0-77954440644 (52)
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
rivista: 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)
2108/44817 - 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
rivista: 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)
2108/44931 - 2009 -
Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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 (70) - 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
rivista: 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
rivista: 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)
2108/44770 - 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
rivista: 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 (104)
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
rivista: 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)
2108/45786 - 2008 -
Role of the ENPP1 K121Q polymorphism on glucose homeostasis Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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
rivista: 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 (81) - scopus: 2-s2.0-40849139200 (94)
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
rivista: 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
rivista: 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
rivista: 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
libro: 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
rivista: 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
rivista: 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
rivista: 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
rivista: 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 (139)
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
rivista: 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
rivista: 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)
2108/228335 - 2005 -
Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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)
2108/228329 - 2002 -
The second activating glucokinase mutation (A456V): Implications for glucose homeostasis and diabetes therapy Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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
rivista: 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 (147)
2108/228333 - 2002 -
The genetic abnormality in the beta cell determines the response to an oral glucose load Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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 (193) - 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
rivista: 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 (95) - 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
rivista: 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)
2108/228325 - 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
rivista: 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)
2108/228322 - 2001 -
Neonatal diabetes mellitus due to complete glucokinase deficiency Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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 (371)
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
rivista: 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
rivista: 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
rivista: 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
rivista: 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
rivista: 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
rivista: 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
rivista: 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
rivista: 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
rivista: 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)
2108/228301 - 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
rivista: 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)
2108/228297 - 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
rivista: 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)
2108/228260 - 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
rivista: 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)
2108/228283 - 1992 -
MUTATIONS IN THE INSULIN-RECEPTOR GENE Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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
rivista: 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
rivista: 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)
2108/228279 - 1992 -
Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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)
2108/228273 - 1991 -
Genetic basis of endocrine disease 1 molecular genetics of insulin resistant diabetes mellitus Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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)
2108/228275 - 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
rivista: 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)
2108/228269 - 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
rivista: 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 (36)
2108/228271 - 1990 -
Growth hormone does not inhibit its own secretion during prolonged hypoglycemia in man Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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
rivista: 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
rivista: GASTROENTEROLOGY (USA: Elsevier
Philadelphia, PA: W B Saunders Company) pp. 1564-1568 - issn: 0016-5085 - wos: (0) - scopus: 2-s2.0-0024211668 (217)
2108/228263 - 1987 -
Dose-response effect of somatostatin-14 on human basal pancreatic hormones Barbetti, Fabrizio - 01 - Articolo su rivista
rivista: 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
rivista: 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
rivista: 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
rivista: 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
rivista: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (Springer
Milano: Editrice Kurtis Srl) pp. 257-260 - issn: 0391-4097 - wos: (0) - scopus: 2-s2.0-0018715745 (7)