IRIS
BARBETTI, FABRIZIO
 Distribuzione geografica
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Continente #
NA - Nord America 25.735
AS - Asia 3.376
EU - Europa 2.063
SA - Sud America 520
Continente sconosciuto - Info sul continente non disponibili 352
AF - Africa 70
OC - Oceania 12
Totale 32.128
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Nazione #
US - Stati Uniti d'America 25.576
SG - Singapore 1.395
CN - Cina 825
HK - Hong Kong 548
BR - Brasile 410
IT - Italia 394
RU - Federazione Russa 343
IE - Irlanda 331
UA - Ucraina 260
DE - Germania 224
VN - Vietnam 208
FI - Finlandia 107
GB - Regno Unito 104
BD - Bangladesh 101
FR - Francia 99
SE - Svezia 80
JP - Giappone 68
CA - Canada 67
KR - Corea 53
AR - Argentina 46
IN - India 34
ID - Indonesia 32
NL - Olanda 28
AT - Austria 20
EC - Ecuador 20
IQ - Iraq 19
MX - Messico 19
ZA - Sudafrica 19
ES - Italia 18
CO - Colombia 17
BE - Belgio 15
JM - Giamaica 15
TR - Turchia 15
CR - Costa Rica 13
MA - Marocco 12
PK - Pakistan 12
CL - Cile 11
PL - Polonia 11
AU - Australia 10
MY - Malesia 9
NP - Nepal 9
TN - Tunisia 9
KE - Kenya 8
TT - Trinidad e Tobago 7
VE - Venezuela 7
DO - Repubblica Dominicana 6
DZ - Algeria 6
HN - Honduras 6
NI - Nicaragua 6
AZ - Azerbaigian 5
GT - Guatemala 5
PT - Portogallo 5
AE - Emirati Arabi Uniti 4
CZ - Repubblica Ceca 4
HU - Ungheria 4
LB - Libano 4
SV - El Salvador 4
BG - Bulgaria 3
ET - Etiopia 3
IR - Iran 3
KG - Kirghizistan 3
PH - Filippine 3
PR - Porto Rico 3
PY - Paraguay 3
QA - Qatar 3
SA - Arabia Saudita 3
TH - Thailandia 3
UY - Uruguay 3
UZ - Uzbekistan 3
CH - Svizzera 2
EG - Egitto 2
EU - Europa 2
GR - Grecia 2
IL - Israele 2
KW - Kuwait 2
LT - Lituania 2
NG - Nigeria 2
PE - Perù 2
RO - Romania 2
SN - Senegal 2
VC - Saint Vincent e Grenadine 2
AG - Antigua e Barbuda 1
AL - Albania 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BS - Bahamas 1
BW - Botswana 1
BY - Bielorussia 1
DM - Dominica 1
EE - Estonia 1
GA - Gabon 1
GE - Georgia 1
GH - Ghana 1
JO - Giordania 1
KH - Cambogia 1
KI - Kiribati 1
KZ - Kazakistan 1
Totale 31.766
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Città #
Wilmington 6.666
Houston 6.257
Woodbridge 5.569
Fairfield 834
Singapore 675
San Jose 620
Ashburn 607
Hong Kong 547
Ann Arbor 479
Beijing 357
Seattle 343
Chandler 317
Dublin 293
Cambridge 282
Jacksonville 225
Medford 224
Council Bluffs 197
Santa Clara 153
Hangzhou 130
The Dalles 119
Lawrence 107
New York 94
Los Angeles 89
Dearborn 77
Buffalo 73
San Diego 67
Lauterbourg 65
Ho Chi Minh City 61
Menlo Park 60
Rome 59
Tokyo 57
Milan 51
Dallas 44
Helsinki 44
Moscow 41
Hanoi 40
São Paulo 39
Mülheim 33
Naples 28
Nuremberg 27
Atlanta 26
Redwood City 24
Redondo Beach 23
Munich 22
Phoenix 22
Jakarta 21
London 21
Chicago 20
Dong Ket 20
Hackensack 16
Toronto 16
Brooklyn 14
Brussels 14
Denver 14
Johannesburg 14
Rio de Janeiro 14
Frankfurt am Main 13
Guayaquil 13
Montreal 13
Chennai 12
Detroit 12
Hefei 12
Mountain View 12
Norwalk 12
Orem 12
San Mateo 12
Verona 12
Columbus 11
Falls Church 11
North Bergen 11
University Park 11
Zhengzhou 11
Saint Petersburg 10
Seoul 10
Shanghai 10
Belo Horizonte 9
Boardman 9
Kingston 9
Miami 9
Pescara 9
Turin 9
Washington 9
Curitiba 8
Las Vegas 8
Palermo 8
San José 8
Turku 8
Boydton 7
Charlotte 7
Da Nang 7
Haiphong 7
Kuala Lumpur 7
Manchester 7
Newark 7
Palo Alto 7
Philadelphia 7
Amsterdam 6
Franklin 6
Guangzhou 6
Kilburn 6
Totale 26.761
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Nome #
Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus 624
Impaired cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetes 494
Effects of somatostatin on established induced ketosis 483
A possible role of transglutaminase 2 in the nucleus of INS-1E and cells of human pancreatic islets. 474
Further evidence that mutations in INS can be a rare cause of Maturity Onset Diabetes of the Young (MODY). 463
Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient 460
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 457
Prevalence of elevated 1-h plasma glucose and its associations in obese youth. 453
Sexual dimorphism of body composition and insulin sensitivity across pubertal development in obese Caucasian subjects 452
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation. KATP channel inactivation mechanism and clinical management. 450
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flow-chart (7-iF) 450
Macrosomia, transient neonatal hypoglycemia and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene. 449
Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening 449
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction that is improved with sulfonylurea therapy. 446
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. 445
Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment 445
No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes 444
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families 443
Monogenic Diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes Centers during 2007-2012 441
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects 439
Prediabetes in Italian children and youngsters. 428
Opposite clinical phenotypes of “glucokinase disease”: description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. 426
Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy 426
INS-gene mutations: from genetics and beta cell biology and clinical disease 426
Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: Impact of low compliance to the gluten free diet 425
Hyperglucagonemia in an animal model of insulin-deficient diabetes: what therapies can improve it ? 421
Mutant INS-gene induced diabetes of youth:proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport 419
Serological proteome analysis (SERPA) as a tool for the identification of new candidate autoantigens in type 1 diabetes 418
Mutations in hIAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood onset diabetes. 415
Permanent diabetes during the first year of life: multiple gene screening in 54 patients 414
Diagnosis of neonatal and infancy-onset diabetes 414
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor. Is it a Barterr-like syndrome a feature of congenital SIR. 412
Minimal Incidence of Neonatal/Infancy Onset Diabetes in Italy is 1:90,000 live births 411
Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies 409
IGF2 methylation is associated with lipid profile in obese children 408
Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage 408
Successful treatment of young infants presenting Neonatal Diabetes Mellitus with continuous subcutaneous insulin infusion before genetic diagnosis. 405
Search for genetic variants in the p66 Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease. 398
b Cell Replacement after Gene Editing of a Neonatal Diabetes-Causing Mutation at the Insulin Locus 396
Role of the ENPP1 K121Q polymorphism on glucose homeostasis 395
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of DEND (Developmental Delay, Epilepsy, and Neonatal Diabetes) 389
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes 384
TRIB3 R84 variant affects glucose homeostasis by alterino the interplay between insulin sensitività and insulin secretion. 379
No sign of proliferatve retinopathy in 15 patients with Permanent Neonatal Diabetes Mellitus with a median diabetes duration of 24 years 376
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 375
Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation 373
When an induced illness looks like a rare disease. 371
Loss-of-function mutations in the APPL1 gene in familial diabetes mellitus. 357
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. 345
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 336
Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test 321
Genetic causes and treatment of neonatal diabetes and early childhood diabetes 321
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 271
Severe insulin resistance in disguise: a familiar case of reactive hypoglycemia associated with a novel heterozygous INSR mutation 251
The second activating glucokinase mutation (A456V): Implications for glucose homeostasis and diabetes therapy 224
Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1β gene: Description of a new family with associated liver involvement 220
Insulin resistance due to mutations of the insulin receptor gene: An overview 213
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 210
Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease 210
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young 205
Growth hormone does not inhibit its own secretion during prolonged hypoglycemia in man 203
Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice 203
Two mutations in a conserved structural motif in the insulin receptor inhibit normal folding and intracellular transport of the receptor 201
Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans 201
Deletion of exon 3 of the insulin receptor gene in a kindred with a familial form of insulin resistance 200
Increased OB gene expression leads to elevated plasma leptin concetrations in patients with chronic primary hyperinsulinemia 199
Genetic basis of endocrine disease 1 molecular genetics of insulin resistant diabetes mellitus 197
The human skeletal muscle glycogenin gene: cDNA, tissue expression, and chromosomal localization 197
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation 195
Pathophysiology of non-insulin-dependent diabetes and the search for candidate genes: Dangerous liaisons? 193
ISPAD Clinical Practice Consensus Guidelines 2022. The diagnosis and management of monogenic diabetes in children and adolescents. 192
Substitution of leu for pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance 192
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 192
Syndromes of autoimmunity and hypoglycemia. Autoantibodies directed against insulin and its receptor 189
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 188
Fecal Lactate and Ulcerative Colitis 187
MEHMO syndrome and the link between brain, pituitary and pancreas 185
Neonatal diabetes mellitus due to complete glucokinase deficiency 185
Amniotic membrane chambers for pancreatic islet transplantation: The diffusion patterns of glucose and insulin 184
Survey on etiological diagnosis of diabetes in 1244 Italian diabetic children and adolescents: Impact of access to genetic testing 183
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI 182
Permanent diabetes mellitus in the first year of life 180
Normal coding sequence of insulin gene in Pima Indians and Nauruans, two groups with highest prevalence of type II diabetes 178
Dose-response effect of somatostatin-14 on human basal pancreatic hormones 176
Insulin: Still a miracle after all these years 174
Neonatal Diabetes: permanent neonatal diabetes and transient neonatal diabetes 167
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 167
Quando l’iperglicemia non è diabete di tipo 1 né di tipo 2: il MODY nella pratica clinica. G Ital Diabetol Metab 166
Diabete tipo 1, tipo 2 e tipo X. Ipeglicemia in età pediatrica: quale diabete ? 164
Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis 161
Role of proline 193 in the insulin receptor post-translational processing 160
MUTATIONS IN THE INSULIN-RECEPTOR GENE 159
Long-term follow-up of glycemic and neurological outcomes in an international series of patients with sulfonylurea-treated ABCC8 permanent neonatal diabetes 159
MODY 2 presenting as neonatal hyperglycaemia: A need to reshape the definition of 'neonatal diabetes'? [2] 157
Effects of somatostatin on insulin and glucagon in patients with insulinoma 153
The genetic abnormality in the beta cell determines the response to an oral glucose load 150
Il MODY. Guida pratica alla diagnosi clinica e alla identificazione molecolare 150
Consulenza genetica e diabete 145
School and preschool children with type 1 diabetes during COVID-19 quarantine: the synergic effect of parental care and technology 140
High incidence of empty sella in long-term hypothyroidism|Elevata frequenza di sella vuota negli ipotiroidismi di lunga durata 138
Totale 30.758
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Categoria #
all - tutte 85.280
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 85.280
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022858 0 0 0 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
2025/20263.792 301 150 399 394 424 116 410 488 425 245 279 161
2026/20271.561 277 217 849 218 0 0 0 0 0 0 0 0
Totale 32.128