IRIS
BARBETTI, FABRIZIO
 Distribuzione geografica
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Continente #
NA - Nord America 23.356
AS - Asia 2.797
EU - Europa 1.524
SA - Sud America 455
AF - Africa 50
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 2
Totale 28.195
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Nazione #
US - Stati Uniti d'America 23.312
SG - Singapore 1.265
CN - Cina 674
HK - Hong Kong 535
BR - Brasile 376
IE - Irlanda 329
UA - Ucraina 257
IT - Italia 238
DE - Germania 207
RU - Federazione Russa 142
VN - Vietnam 119
GB - Regno Unito 88
SE - Svezia 77
FI - Finlandia 66
KR - Corea 51
AR - Argentina 36
ID - Indonesia 26
FR - Francia 24
NL - Olanda 22
CA - Canada 21
JP - Giappone 21
AT - Austria 20
IN - India 20
EC - Ecuador 17
ZA - Sudafrica 16
IQ - Iraq 15
BE - Belgio 14
MX - Messico 12
BD - Bangladesh 11
CO - Colombia 11
TR - Turchia 11
ES - Italia 10
PL - Polonia 10
AU - Australia 9
MA - Marocco 8
PK - Pakistan 8
TN - Tunisia 8
KE - Kenya 6
CL - Cile 4
DO - Repubblica Dominicana 4
LB - Libano 4
MY - Malesia 4
VE - Venezuela 4
AZ - Azerbaigian 3
BG - Bulgaria 3
DZ - Algeria 3
HU - Ungheria 3
IR - Iran 3
NP - Nepal 3
QA - Qatar 3
SA - Arabia Saudita 3
AE - Emirati Arabi Uniti 2
CH - Svizzera 2
CR - Costa Rica 2
CZ - Repubblica Ceca 2
EG - Egitto 2
ET - Etiopia 2
EU - Europa 2
JM - Giamaica 2
KG - Kirghizistan 2
KW - Kuwait 2
LT - Lituania 2
PE - Perù 2
PH - Filippine 2
PT - Portogallo 2
PY - Paraguay 2
RO - Romania 2
UY - Uruguay 2
UZ - Uzbekistan 2
AL - Albania 1
BA - Bosnia-Erzegovina 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BW - Botswana 1
EE - Estonia 1
GA - Gabon 1
GE - Georgia 1
HN - Honduras 1
IL - Israele 1
KH - Cambogia 1
KI - Kiribati 1
LK - Sri Lanka 1
MT - Malta 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
OM - Oman 1
PA - Panama 1
PS - Palestinian Territory 1
SD - Sudan 1
SN - Senegal 1
SY - Repubblica araba siriana 1
TT - Trinidad e Tobago 1
Totale 28.195
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Città #
Wilmington 6.666
Houston 6.249
Woodbridge 5.569
Fairfield 834
Singapore 561
Hong Kong 534
Ann Arbor 479
Ashburn 413
Beijing 344
Seattle 342
Chandler 317
Dublin 292
Cambridge 282
Jacksonville 224
Medford 224
Santa Clara 130
Hangzhou 129
Lawrence 107
Dearborn 77
The Dalles 72
San Diego 64
New York 61
Menlo Park 60
Buffalo 59
Los Angeles 59
Rome 41
Ho Chi Minh City 37
Dallas 36
Mülheim 33
São Paulo 33
Council Bluffs 28
Nuremberg 24
Redwood City 24
Redondo Beach 23
Milan 22
Moscow 22
Munich 22
Jakarta 21
Dong Ket 20
Hanoi 18
Naples 17
Hackensack 16
London 16
Brussels 14
Tokyo 14
Johannesburg 13
Rio de Janeiro 13
Hefei 12
Mountain View 12
Phoenix 12
San Mateo 12
Verona 12
Falls Church 11
Norwalk 11
University Park 11
Guayaquil 10
Saint Petersburg 10
Zhengzhou 10
Atlanta 9
Belo Horizonte 9
Boardman 9
Chennai 9
Denver 9
Detroit 9
Seoul 9
Toronto 9
Curitiba 8
Turku 8
Chicago 7
Montreal 7
Palo Alto 7
Shanghai 7
Kilburn 6
Nanjing 6
Suzhou 6
Warsaw 6
Amsterdam 5
Brisbane 5
Columbus 5
Guangzhou 5
Haiphong 5
Hounslow 5
Lappeenranta 5
Manchester 5
Mascalucia 5
Pescara 5
San Giovanni Rotondo 5
San Jose 5
Wuhan 5
Barranquilla 4
Betim 4
Brooklyn 4
Buenos Aires 4
Campinas 4
Chengdu 4
Clifton 4
Helsinki 4
Jinan 4
Kunming 4
Meppel 4
Totale 25.027
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Nome #
Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus 584
Effects of somatostatin on established induced ketosis 450
A possible role of transglutaminase 2 in the nucleus of INS-1E and cells of human pancreatic islets. 444
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 433
Prevalence of elevated 1-h plasma glucose and its associations in obese youth. 432
Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening 426
Sexual dimorphism of body composition and insulin sensitivity across pubertal development in obese Caucasian subjects 425
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flow-chart (7-iF) 425
Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient 423
Macrosomia, transient neonatal hypoglycemia and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene. 419
Impaired cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetes 419
Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment 419
No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes 418
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. 417
Monogenic Diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes Centers during 2007-2012 416
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation. KATP channel inactivation mechanism and clinical management. 410
Further evidence that mutations in INS can be a rare cause of Maturity Onset Diabetes of the Young (MODY). 410
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction that is improved with sulfonylurea therapy. 405
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects 402
Serological proteome analysis (SERPA) as a tool for the identification of new candidate autoantigens in type 1 diabetes 402
Hyperglucagonemia in an animal model of insulin-deficient diabetes: what therapies can improve it ? 398
Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy 396
INS-gene mutations: from genetics and beta cell biology and clinical disease 396
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families 395
Prediabetes in Italian children and youngsters. 392
Opposite clinical phenotypes of “glucokinase disease”: description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. 390
Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: Impact of low compliance to the gluten free diet 388
Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies 387
Mutant INS-gene induced diabetes of youth:proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport 385
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor. Is it a Barterr-like syndrome a feature of congenital SIR. 385
Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage 382
Mutations in hIAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood onset diabetes. 379
IGF2 methylation is associated with lipid profile in obese children 379
Minimal Incidence of Neonatal/Infancy Onset Diabetes in Italy is 1:90,000 live births 378
Permanent diabetes during the first year of life: multiple gene screening in 54 patients 377
Search for genetic variants in the p66 Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease. 377
Successful treatment of young infants presenting Neonatal Diabetes Mellitus with continuous subcutaneous insulin infusion before genetic diagnosis. 376
Role of the ENPP1 K121Q polymorphism on glucose homeostasis 373
Diagnosis of neonatal and infancy-onset diabetes 371
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes 358
No sign of proliferatve retinopathy in 15 patients with Permanent Neonatal Diabetes Mellitus with a median diabetes duration of 24 years 356
When an induced illness looks like a rare disease. 355
b Cell Replacement after Gene Editing of a Neonatal Diabetes-Causing Mutation at the Insulin Locus 355
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of DEND (Developmental Delay, Epilepsy, and Neonatal Diabetes) 350
Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation 350
TRIB3 R84 variant affects glucose homeostasis by alterino the interplay between insulin sensitività and insulin secretion. 347
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 328
Loss-of-function mutations in the APPL1 gene in familial diabetes mellitus. 326
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. 308
Genetic causes and treatment of neonatal diabetes and early childhood diabetes 294
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 291
Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test 284
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 250
Severe insulin resistance in disguise: a familiar case of reactive hypoglycemia associated with a novel heterozygous INSR mutation 200
Insulin resistance due to mutations of the insulin receptor gene: An overview 195
Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease 190
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 184
Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1β gene: Description of a new family with associated liver involvement 182
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young 181
Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans 180
Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice 177
Substitution of leu for pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance 175
Deletion of exon 3 of the insulin receptor gene in a kindred with a familial form of insulin resistance 175
The human skeletal muscle glycogenin gene: cDNA, tissue expression, and chromosomal localization 175
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation 174
Genetic basis of endocrine disease 1 molecular genetics of insulin resistant diabetes mellitus 172
Pathophysiology of non-insulin-dependent diabetes and the search for candidate genes: Dangerous liaisons? 172
The second activating glucokinase mutation (A456V): Implications for glucose homeostasis and diabetes therapy 171
Neonatal diabetes mellitus due to complete glucokinase deficiency 169
Fecal Lactate and Ulcerative Colitis 167
Increased OB gene expression leads to elevated plasma leptin concetrations in patients with chronic primary hyperinsulinemia 166
MEHMO syndrome and the link between brain, pituitary and pancreas 165
Two mutations in a conserved structural motif in the insulin receptor inhibit normal folding and intracellular transport of the receptor 165
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 163
Syndromes of autoimmunity and hypoglycemia. Autoantibodies directed against insulin and its receptor 160
Growth hormone does not inhibit its own secretion during prolonged hypoglycemia in man 159
Amniotic membrane chambers for pancreatic islet transplantation: The diffusion patterns of glucose and insulin 158
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI 157
Survey on etiological diagnosis of diabetes in 1244 Italian diabetic children and adolescents: Impact of access to genetic testing 153
Normal coding sequence of insulin gene in Pima Indians and Nauruans, two groups with highest prevalence of type II diabetes 152
Dose-response effect of somatostatin-14 on human basal pancreatic hormones 151
Permanent diabetes mellitus in the first year of life 150
Neonatal Diabetes: permanent neonatal diabetes and transient neonatal diabetes 143
Role of proline 193 in the insulin receptor post-translational processing 141
Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis 140
Insulin: Still a miracle after all these years 140
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 139
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 137
MUTATIONS IN THE INSULIN-RECEPTOR GENE 135
ISPAD Clinical Practice Consensus Guidelines 2022. The diagnosis and management of monogenic diabetes in children and adolescents. 131
MODY 2 presenting as neonatal hyperglycaemia: A need to reshape the definition of 'neonatal diabetes'? [2] 130
The genetic abnormality in the beta cell determines the response to an oral glucose load 129
Quando l’iperglicemia non è diabete di tipo 1 né di tipo 2: il MODY nella pratica clinica. G Ital Diabetol Metab 126
Effects of somatostatin on insulin and glucagon in patients with insulinoma 123
Diabete tipo 1, tipo 2 e tipo X. Ipeglicemia in età pediatrica: quale diabete ? 120
Long-term follow-up of glycemic and neurological outcomes in an international series of patients with sulfonylurea-treated ABCC8 permanent neonatal diabetes 119
High incidence of empty sella in long-term hypothyroidism|Elevata frequenza di sella vuota negli ipotiroidismi di lunga durata 115
The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity 111
School and preschool children with type 1 diabetes during COVID-19 quarantine: the synergic effect of parental care and technology 110
Il MODY. Guida pratica alla diagnosi clinica e alla identificazione molecolare 107
Totale 27.669
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Categoria #
all - tutte 73.018
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 73.018
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20212.229 0 0 0 0 0 534 723 511 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
2024/20252.237 78 527 242 108 50 205 164 67 205 277 169 145
2025/20261.746 301 150 399 394 424 78 0 0 0 0 0 0
Totale 28.521