IRIS
BARBETTI, FABRIZIO
 Distribuzione geografica
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Continente #
NA - Nord America 24.455
AS - Asia 3.336
EU - Europa 1.980
SA - Sud America 502
AF - Africa 67
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 2
Totale 30.354
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Nazione #
US - Stati Uniti d'America 24.360
SG - Singapore 1.389
CN - Cina 820
HK - Hong Kong 548
BR - Brasile 405
RU - Federazione Russa 343
IE - Irlanda 330
IT - Italia 330
UA - Ucraina 260
DE - Germania 219
VN - Vietnam 204
FI - Finlandia 107
FR - Francia 98
GB - Regno Unito 94
BD - Bangladesh 85
SE - Svezia 79
JP - Giappone 68
KR - Corea 53
CA - Canada 45
AR - Argentina 44
IN - India 34
ID - Indonesia 29
NL - Olanda 28
AT - Austria 20
IQ - Iraq 19
ZA - Sudafrica 19
ES - Italia 18
MX - Messico 18
EC - Ecuador 17
BE - Belgio 15
TR - Turchia 14
MA - Marocco 12
CL - Cile 11
CO - Colombia 11
PK - Pakistan 11
PL - Polonia 11
AU - Australia 10
CR - Costa Rica 9
TN - Tunisia 9
MY - Malesia 8
NP - Nepal 7
DO - Repubblica Dominicana 6
DZ - Algeria 6
JM - Giamaica 6
KE - Kenya 6
AZ - Azerbaigian 5
PT - Portogallo 5
VE - Venezuela 5
AE - Emirati Arabi Uniti 4
HU - Ungheria 4
LB - Libano 4
BG - Bulgaria 3
CZ - Repubblica Ceca 3
ET - Etiopia 3
IR - Iran 3
KG - Kirghizistan 3
PH - Filippine 3
PY - Paraguay 3
QA - Qatar 3
SA - Arabia Saudita 3
TT - Trinidad e Tobago 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
NI - Nicaragua 2
PE - Perù 2
PR - Porto Rico 2
RO - Romania 2
SN - Senegal 2
TH - Thailandia 2
AL - Albania 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BS - Bahamas 1
BW - Botswana 1
BY - Bielorussia 1
EE - Estonia 1
GA - Gabon 1
GE - Georgia 1
GH - Ghana 1
GT - Guatemala 1
HN - Honduras 1
JO - Giordania 1
KH - Cambogia 1
KI - Kiribati 1
KZ - Kazakistan 1
LK - Sri Lanka 1
LS - Lesotho 1
MT - Malta 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
OM - Oman 1
Totale 30.348
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Città #
Wilmington 6.666
Houston 6.255
Woodbridge 5.569
Fairfield 834
Singapore 671
Hong Kong 547
Ashburn 480
Ann Arbor 479
San Jose 476
Beijing 353
Seattle 342
Chandler 317
Dublin 293
Cambridge 282
Jacksonville 224
Medford 224
Santa Clara 144
Hangzhou 130
The Dalles 119
Lawrence 107
Council Bluffs 105
New York 87
Dearborn 77
Los Angeles 71
Lauterbourg 65
Buffalo 64
San Diego 64
Ho Chi Minh City 60
Menlo Park 60
Tokyo 57
Rome 52
Helsinki 44
Moscow 41
Dallas 39
São Paulo 39
Hanoi 38
Mülheim 33
Milan 27
Nuremberg 24
Redwood City 24
Redondo Beach 23
Munich 22
Naples 22
Jakarta 21
Dong Ket 20
London 20
Atlanta 17
Hackensack 16
Phoenix 16
Brussels 14
Chicago 14
Johannesburg 14
Rio de Janeiro 14
Frankfurt am Main 13
Toronto 13
Chennai 12
Hefei 12
Mountain View 12
Orem 12
San Mateo 12
Verona 12
Falls Church 11
Norwalk 11
University Park 11
Zhengzhou 11
Detroit 10
Guayaquil 10
Montreal 10
Saint Petersburg 10
Seoul 10
Shanghai 10
Belo Horizonte 9
Boardman 9
Columbus 9
Denver 9
North Bergen 9
Pescara 9
Curitiba 8
Palermo 8
Turku 8
Da Nang 7
Haiphong 7
Kuala Lumpur 7
Miami 7
Palo Alto 7
Amsterdam 6
Brooklyn 6
Guangzhou 6
Kilburn 6
Lappeenranta 6
Las Vegas 6
Manchester 6
Nanjing 6
San José 6
Stockholm 6
Suzhou 6
Turin 6
Warsaw 6
Baku 5
Brisbane 5
Totale 26.219
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Nome #
Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus 606
Impaired cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetes 475
Effects of somatostatin on established induced ketosis 467
A possible role of transglutaminase 2 in the nucleus of INS-1E and cells of human pancreatic islets. 460
Further evidence that mutations in INS can be a rare cause of Maturity Onset Diabetes of the Young (MODY). 453
Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient 448
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 447
Prevalence of elevated 1-h plasma glucose and its associations in obese youth. 444
Macrosomia, transient neonatal hypoglycemia and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene. 442
Sexual dimorphism of body composition and insulin sensitivity across pubertal development in obese Caucasian subjects 440
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flow-chart (7-iF) 439
No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes 438
Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening 435
Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment 435
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation. KATP channel inactivation mechanism and clinical management. 434
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. 432
Monogenic Diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes Centers during 2007-2012 432
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction that is improved with sulfonylurea therapy. 430
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects 426
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families 425
Opposite clinical phenotypes of “glucokinase disease”: description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. 415
Hyperglucagonemia in an animal model of insulin-deficient diabetes: what therapies can improve it ? 413
INS-gene mutations: from genetics and beta cell biology and clinical disease 411
Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: Impact of low compliance to the gluten free diet 410
Prediabetes in Italian children and youngsters. 410
Serological proteome analysis (SERPA) as a tool for the identification of new candidate autoantigens in type 1 diabetes 410
Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy 407
Diagnosis of neonatal and infancy-onset diabetes 406
Permanent diabetes during the first year of life: multiple gene screening in 54 patients 405
Mutations in hIAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood onset diabetes. 405
Mutant INS-gene induced diabetes of youth:proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport 404
Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage 400
Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies 399
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor. Is it a Barterr-like syndrome a feature of congenital SIR. 399
Successful treatment of young infants presenting Neonatal Diabetes Mellitus with continuous subcutaneous insulin infusion before genetic diagnosis. 395
IGF2 methylation is associated with lipid profile in obese children 394
Minimal Incidence of Neonatal/Infancy Onset Diabetes in Italy is 1:90,000 live births 393
Search for genetic variants in the p66 Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease. 390
b Cell Replacement after Gene Editing of a Neonatal Diabetes-Causing Mutation at the Insulin Locus 388
Role of the ENPP1 K121Q polymorphism on glucose homeostasis 387
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of DEND (Developmental Delay, Epilepsy, and Neonatal Diabetes) 376
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes 373
No sign of proliferatve retinopathy in 15 patients with Permanent Neonatal Diabetes Mellitus with a median diabetes duration of 24 years 370
TRIB3 R84 variant affects glucose homeostasis by alterino the interplay between insulin sensitività and insulin secretion. 367
Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation 366
When an induced illness looks like a rare disease. 365
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 353
Loss-of-function mutations in the APPL1 gene in familial diabetes mellitus. 349
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. 334
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 325
Genetic causes and treatment of neonatal diabetes and early childhood diabetes 308
Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test 307
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 263
Severe insulin resistance in disguise: a familiar case of reactive hypoglycemia associated with a novel heterozygous INSR mutation 220
The second activating glucokinase mutation (A456V): Implications for glucose homeostasis and diabetes therapy 208
Insulin resistance due to mutations of the insulin receptor gene: An overview 203
Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease 202
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 195
Growth hormone does not inhibit its own secretion during prolonged hypoglycemia in man 194
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young 193
Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans 192
Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice 192
Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1β gene: Description of a new family with associated liver involvement 191
Genetic basis of endocrine disease 1 molecular genetics of insulin resistant diabetes mellitus 189
Deletion of exon 3 of the insulin receptor gene in a kindred with a familial form of insulin resistance 188
The human skeletal muscle glycogenin gene: cDNA, tissue expression, and chromosomal localization 187
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation 186
Substitution of leu for pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance 186
Two mutations in a conserved structural motif in the insulin receptor inhibit normal folding and intracellular transport of the receptor 185
Pathophysiology of non-insulin-dependent diabetes and the search for candidate genes: Dangerous liaisons? 185
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 184
Fecal Lactate and Ulcerative Colitis 181
Increased OB gene expression leads to elevated plasma leptin concetrations in patients with chronic primary hyperinsulinemia 180
ISPAD Clinical Practice Consensus Guidelines 2022. The diagnosis and management of monogenic diabetes in children and adolescents. 178
Neonatal diabetes mellitus due to complete glucokinase deficiency 177
Amniotic membrane chambers for pancreatic islet transplantation: The diffusion patterns of glucose and insulin 176
MEHMO syndrome and the link between brain, pituitary and pancreas 175
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI 173
Syndromes of autoimmunity and hypoglycemia. Autoantibodies directed against insulin and its receptor 172
Survey on etiological diagnosis of diabetes in 1244 Italian diabetic children and adolescents: Impact of access to genetic testing 171
Permanent diabetes mellitus in the first year of life 166
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 165
Normal coding sequence of insulin gene in Pima Indians and Nauruans, two groups with highest prevalence of type II diabetes 164
Dose-response effect of somatostatin-14 on human basal pancreatic hormones 163
Neonatal Diabetes: permanent neonatal diabetes and transient neonatal diabetes 159
Quando l’iperglicemia non è diabete di tipo 1 né di tipo 2: il MODY nella pratica clinica. G Ital Diabetol Metab 157
Insulin: Still a miracle after all these years 156
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 156
Diabete tipo 1, tipo 2 e tipo X. Ipeglicemia in età pediatrica: quale diabete ? 155
Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis 153
Role of proline 193 in the insulin receptor post-translational processing 152
MUTATIONS IN THE INSULIN-RECEPTOR GENE 149
MODY 2 presenting as neonatal hyperglycaemia: A need to reshape the definition of 'neonatal diabetes'? [2] 145
The genetic abnormality in the beta cell determines the response to an oral glucose load 144
Effects of somatostatin on insulin and glucagon in patients with insulinoma 144
Long-term follow-up of glycemic and neurological outcomes in an international series of patients with sulfonylurea-treated ABCC8 permanent neonatal diabetes 141
Il MODY. Guida pratica alla diagnosi clinica e alla identificazione molecolare 137
Consulenza genetica e diabete 136
High incidence of empty sella in long-term hypothyroidism|Elevata frequenza di sella vuota negli ipotiroidismi di lunga durata 127
The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity 127
Totale 29.564
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Categoria #
all - tutte 80.078
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 80.078
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20263.792 301 150 399 394 424 116 410 488 425 245 279 161
2026/2027116 116 0 0 0 0 0 0 0 0 0 0 0
Totale 30.683