IRIS
BARBETTI, FABRIZIO
 Distribuzione geografica
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Continente #
NA - Nord America 22.805
EU - Europa 1.328
AS - Asia 1.084
SA - Sud America 20
OC - Oceania 9
AF - Africa 5
Continente sconosciuto - Info sul continente non disponibili 2
Totale 25.253
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Nazione #
US - Stati Uniti d'America 22.797
SG - Singapore 504
CN - Cina 435
IE - Irlanda 329
UA - Ucraina 252
IT - Italia 182
DE - Germania 161
RU - Federazione Russa 134
SE - Svezia 76
GB - Regno Unito 68
FI - Finlandia 58
KR - Corea 50
FR - Francia 23
HK - Hong Kong 21
VN - Vietnam 21
ID - Indonesia 20
BR - Brasile 18
BE - Belgio 14
JP - Giappone 10
NL - Olanda 10
AU - Australia 8
CA - Canada 8
ES - Italia 4
IN - India 4
PL - Polonia 4
BG - Bulgaria 3
IR - Iran 3
AE - Emirati Arabi Uniti 2
CZ - Repubblica Ceca 2
EU - Europa 2
HU - Ungheria 2
KW - Kuwait 2
PH - Filippine 2
PK - Pakistan 2
PT - Portogallo 2
QA - Qatar 2
RO - Romania 2
SA - Arabia Saudita 2
AR - Argentina 1
CH - Svizzera 1
CL - Cile 1
DZ - Algeria 1
EG - Egitto 1
IL - Israele 1
KG - Kirghizistan 1
MT - Malta 1
MY - Malesia 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
SD - Sudan 1
TN - Tunisia 1
TR - Turchia 1
Totale 25.253
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Città #
Wilmington 6.664
Houston 6.245
Woodbridge 5.569
Fairfield 834
Ann Arbor 479
Singapore 434
Ashburn 370
Seattle 341
Chandler 317
Dublin 292
Cambridge 282
Beijing 227
Jacksonville 224
Medford 223
Hangzhou 129
Santa Clara 125
Lawrence 107
Dearborn 77
San Diego 64
Menlo Park 60
New York 46
Rome 37
Mülheim 33
Redwood City 24
Moscow 22
Dong Ket 20
Hong Kong 20
Jakarta 20
Milan 19
Hackensack 16
Brussels 14
Naples 14
Hefei 12
London 12
Mountain View 12
San Mateo 12
Verona 12
Falls Church 11
Norwalk 11
Phoenix 11
University Park 11
Saint Petersburg 10
Detroit 9
Zhengzhou 9
Boardman 8
Seoul 8
Palo Alto 7
Kilburn 6
Nanjing 6
Brisbane 5
Hounslow 5
Lappeenranta 5
San Giovanni Rotondo 5
São Paulo 5
Toronto 5
Wuhan 5
Chengdu 4
Clifton 4
Guangzhou 4
Helsinki 4
Jinan 4
Kunming 4
Meppel 4
Prescot 4
Rio de Janeiro 4
Turin 4
Alcamo Marina 3
Ancona 3
Chiswick 3
Kraków 3
La Jolla 3
Los Angeles 3
Munich 3
Nanchang 3
Nuremberg 3
Padova 3
Roebling 3
San Francisco 3
Shanghai 3
Sofia 3
Stockholm 3
Tokyo 3
Ypsilanti 3
Bollate 2
Bolzano 2
Bucharest 2
Debrecen 2
Doha 2
Florence 2
Formia 2
Frankfurt am Main 2
Indiana 2
Islamabad 2
Kuwait City 2
La Canada Flintridge 2
Latham 2
Lisbon 2
Makkah 2
Manila 2
Marigliano 2
Totale 23.675
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Nome #
Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus 555
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 417
Prevalence of elevated 1-h plasma glucose and its associations in obese youth. 414
A possible role of transglutaminase 2 in the nucleus of INS-1E and cells of human pancreatic islets. 408
Sexual dimorphism of body composition and insulin sensitivity across pubertal development in obese Caucasian subjects 405
Effects of somatostatin on established induced ketosis 403
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flow-chart (7-iF) 403
Monogenic Diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes Centers during 2007-2012 399
Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening 395
Macrosomia, transient neonatal hypoglycemia and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene. 394
No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes 393
Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient 390
Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment 390
Impaired cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetes 389
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. 389
Further evidence that mutations in INS can be a rare cause of Maturity Onset Diabetes of the Young (MODY). 379
Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy 378
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation. KATP channel inactivation mechanism and clinical management. 377
Serological proteome analysis (SERPA) as a tool for the identification of new candidate autoantigens in type 1 diabetes 377
INS-gene mutations: from genetics and beta cell biology and clinical disease 377
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects 376
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction that is improved with sulfonylurea therapy. 375
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families 374
Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: Impact of low compliance to the gluten free diet 374
Hyperglucagonemia in an animal model of insulin-deficient diabetes: what therapies can improve it ? 374
Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies 372
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor. Is it a Barterr-like syndrome a feature of congenital SIR. 363
Prediabetes in Italian children and youngsters. 362
Successful treatment of young infants presenting Neonatal Diabetes Mellitus with continuous subcutaneous insulin infusion before genetic diagnosis. 361
Search for genetic variants in the p66 Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease. 357
Minimal Incidence of Neonatal/Infancy Onset Diabetes in Italy is 1:90,000 live births 354
Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage 354
Role of the ENPP1 K121Q polymorphism on glucose homeostasis 353
Mutant INS-gene induced diabetes of youth:proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport 352
Mutations in hIAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood onset diabetes. 352
Permanent diabetes during the first year of life: multiple gene screening in 54 patients 349
Opposite clinical phenotypes of “glucokinase disease”: description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. 344
Diagnosis of neonatal and infancy-onset diabetes 344
IGF2 methylation is associated with lipid profile in obese children 343
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes 341
No sign of proliferatve retinopathy in 15 patients with Permanent Neonatal Diabetes Mellitus with a median diabetes duration of 24 years 341
When an induced illness looks like a rare disease. 332
b Cell Replacement after Gene Editing of a Neonatal Diabetes-Causing Mutation at the Insulin Locus 331
TRIB3 R84 variant affects glucose homeostasis by alterino the interplay between insulin sensitività and insulin secretion. 330
Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation 329
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of DEND (Developmental Delay, Epilepsy, and Neonatal Diabetes) 322
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 312
Loss-of-function mutations in the APPL1 gene in familial diabetes mellitus. 306
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. 274
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 265
Genetic causes and treatment of neonatal diabetes and early childhood diabetes 262
Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test 252
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 223
Severe insulin resistance in disguise: a familiar case of reactive hypoglycemia associated with a novel heterozygous INSR mutation 181
Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease 167
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young 160
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation 156
The human skeletal muscle glycogenin gene: cDNA, tissue expression, and chromosomal localization 156
Insulin resistance due to mutations of the insulin receptor gene: An overview 155
Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans 151
Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice 151
Genetic basis of endocrine disease 1 molecular genetics of insulin resistant diabetes mellitus 150
The second activating glucokinase mutation (A456V): Implications for glucose homeostasis and diabetes therapy 149
Substitution of leu for pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance 149
Pathophysiology of non-insulin-dependent diabetes and the search for candidate genes: Dangerous liaisons? 149
Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1β gene: Description of a new family with associated liver involvement 147
Fecal Lactate and Ulcerative Colitis 146
Deletion of exon 3 of the insulin receptor gene in a kindred with a familial form of insulin resistance 145
Neonatal diabetes mellitus due to complete glucokinase deficiency 144
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 144
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 143
Increased OB gene expression leads to elevated plasma leptin concetrations in patients with chronic primary hyperinsulinemia 143
Syndromes of autoimmunity and hypoglycemia. Autoantibodies directed against insulin and its receptor 137
MEHMO syndrome and the link between brain, pituitary and pancreas 132
Two mutations in a conserved structural motif in the insulin receptor inhibit normal folding and intracellular transport of the receptor 131
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI 130
Growth hormone does not inhibit its own secretion during prolonged hypoglycemia in man 128
Dose-response effect of somatostatin-14 on human basal pancreatic hormones 128
Amniotic membrane chambers for pancreatic islet transplantation: The diffusion patterns of glucose and insulin 127
Permanent diabetes mellitus in the first year of life 125
Normal coding sequence of insulin gene in Pima Indians and Nauruans, two groups with highest prevalence of type II diabetes 123
Insulin: Still a miracle after all these years 122
Survey on etiological diagnosis of diabetes in 1244 Italian diabetic children and adolescents: Impact of access to genetic testing 122
Neonatal Diabetes: permanent neonatal diabetes and transient neonatal diabetes 121
Role of proline 193 in the insulin receptor post-translational processing 120
Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis 118
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 116
MODY 2 presenting as neonatal hyperglycaemia: A need to reshape the definition of 'neonatal diabetes'? [2] 112
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 103
MUTATIONS IN THE INSULIN-RECEPTOR GENE 102
Quando l’iperglicemia non è diabete di tipo 1 né di tipo 2: il MODY nella pratica clinica. G Ital Diabetol Metab 102
The genetic abnormality in the beta cell determines the response to an oral glucose load 94
Effects of somatostatin on insulin and glucagon in patients with insulinoma 92
The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity 91
School and preschool children with type 1 diabetes during COVID-19 quarantine: the synergic effect of parental care and technology 90
High incidence of empty sella in long-term hypothyroidism|Elevata frequenza di sella vuota negli ipotiroidismi di lunga durata 88
Il MODY. Guida pratica alla diagnosi clinica e alla identificazione molecolare 86
Long-term follow-up of glycemic and neurological outcomes in an international series of patients with sulfonylurea-treated ABCC8 permanent neonatal diabetes 86
Diabete tipo 1, tipo 2 e tipo X. Ipeglicemia in età pediatrica: quale diabete ? 84
ISPAD Clinical Practice Consensus Guidelines 2022. The diagnosis and management of monogenic diabetes in children and adolescents. 83
Totale 25.064
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Categoria #
all - tutte 58.603
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 58.603
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20205.252 0 0 0 0 0 585 682 840 1.009 759 708 669
2020/20215.498 624 696 556 691 702 534 723 511 80 129 134 118
2021/20221.057 42 132 25 27 48 61 69 40 83 70 65 395
2022/20231.056 131 69 25 142 86 273 106 48 74 6 78 18
2023/2024289 34 9 17 7 43 50 42 17 18 3 5 44
2024/20251.041 78 527 242 108 50 36 0 0 0 0 0 0
Totale 25.579