IRIS
VILLANI, GUGLIELMO ROSARIO DOMENICO
 Distribuzione geografica
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Continente #
EU - Europa 9.702
NA - Nord America 3.964
AS - Asia 3.446
SA - Sud America 497
Continente sconosciuto - Info sul continente non disponibili 185
AF - Africa 86
OC - Oceania 5
Totale 17.885
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Nazione #
IT - Italia 6.885
US - Stati Uniti d'America 3.821
SG - Singapore 1.407
RU - Federazione Russa 1.073
VN - Vietnam 816
CN - Cina 580
UA - Ucraina 418
BR - Brasile 404
FR - Francia 278
HK - Hong Kong 262
NL - Olanda 191
SE - Svezia 182
DE - Germania 176
FI - Finlandia 120
GB - Regno Unito 106
CA - Canada 79
IE - Irlanda 78
JP - Giappone 72
IN - India 65
PL - Polonia 49
BD - Bangladesh 43
BE - Belgio 39
AR - Argentina 36
MX - Messico 30
CI - Costa d'Avorio 26
ID - Indonesia 23
CH - Svizzera 22
ES - Italia 21
TH - Thailandia 20
TR - Turchia 20
ZA - Sudafrica 19
IQ - Iraq 18
RO - Romania 17
PH - Filippine 15
PK - Pakistan 15
AT - Austria 12
EC - Ecuador 12
CL - Cile 11
KR - Corea 11
CO - Colombia 10
SA - Arabia Saudita 10
EG - Egitto 9
TW - Taiwan 9
VE - Venezuela 9
IL - Israele 8
LT - Lituania 7
PY - Paraguay 7
AE - Emirati Arabi Uniti 6
AL - Albania 6
KZ - Kazakistan 6
UZ - Uzbekistan 6
BA - Bosnia-Erzegovina 5
CR - Costa Rica 5
ET - Etiopia 5
JM - Giamaica 5
MA - Marocco 5
NP - Nepal 5
IR - Iran 4
KE - Kenya 4
TT - Trinidad e Tobago 4
UY - Uruguay 4
AU - Australia 3
DZ - Algeria 3
GR - Grecia 3
HN - Honduras 3
KW - Kuwait 3
LK - Sri Lanka 3
NG - Nigeria 3
PA - Panama 3
PE - Perù 3
AO - Angola 2
AZ - Azerbaigian 2
BB - Barbados 2
BZ - Belize 2
CY - Cipro 2
DK - Danimarca 2
GT - Guatemala 2
KG - Kirghizistan 2
LB - Libano 2
NI - Nicaragua 2
PR - Porto Rico 2
PT - Portogallo 2
RS - Serbia 2
SN - Senegal 2
TN - Tunisia 2
AM - Armenia 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BS - Bahamas 1
BY - Bielorussia 1
CZ - Repubblica Ceca 1
GA - Gabon 1
GE - Georgia 1
GM - Gambi 1
HR - Croazia 1
HU - Ungheria 1
JO - Giordania 1
KH - Cambogia 1
KY - Cayman, isole 1
Totale 17.683
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Città #
Singapore 637
Rome 387
Milan 383
Chandler 379
Naples 371
San Jose 358
Ashburn 320
Jacksonville 268
Beijing 262
Hong Kong 243
Moscow 221
Ho Chi Minh City 214
Santa Clara 196
Council Bluffs 186
Palermo 172
Stockholm 158
Hanoi 142
Millbury 124
Napoli 110
Bologna 102
Princeton 93
Lauterbourg 89
The Dalles 80
Catania 79
Florence 74
Los Angeles 74
Turin 72
Tokyo 61
Wilmington 61
Bari 49
São Paulo 48
Nanjing 46
New York 46
Amsterdam 43
Buffalo 43
Dearborn 40
Dallas 38
Padova 32
Waanrode 31
Da Nang 30
Genoa 27
Houston 27
Boston 26
Redondo Beach 26
Haiphong 24
Kronberg 24
Phoenix 24
Salerno 23
Helsinki 21
Ottawa 21
Nuremberg 20
Pescara 20
Brescia 19
Latina 19
Reggio Calabria 19
Bergamo 18
Brooklyn 18
Nanchang 18
Seattle 18
Toronto 18
Verona 18
Caserta 17
Chicago 17
Genova 17
Redwood City 17
Rio de Janeiro 17
Afragola 16
Ancona 16
Ann Arbor 16
Munich 16
Orem 16
Tianjin 15
Torino 15
Warsaw 15
Changsha 14
Chennai 14
Denver 14
Hefei 14
Hải Dương 14
Senigallia 14
Shenyang 14
Trieste 14
Des Moines 13
Hebei 13
Messina 13
Mexico City 13
Mumbai 13
Parma 13
Taranto 13
Venice 13
Augusta 12
Capaccio 12
London 12
Norwalk 12
Atlanta 11
Frankfurt am Main 11
Johannesburg 11
Montreal 11
Reggio Emilia 11
San Francisco 11
Totale 7.350
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Nome #
Newborn screening: uno strumento per la diagnosi di difetti metabolici materni non diagnosticati 3.415
Deficit di vitamina B12 materna diagnosticati mediante screening neonatale allargato 2.751
Deficit di 3-Metilcrotonil-CoA Carbossilasi: identificazione di due nuove mutazioni 1.719
"Classical organic acidurias": diagnosis and pathogenesis. 559
Diagnosi di malattie metaboliche su sospetto clinico a confronto con dati di screening metabolico allargato 367
Mutations among Italian Mucopolysaccharidosis type I patients 174
Hypermethioninemia in Campania: Results from 10 years of newborn screening 169
A real benefit of an extended neonatal screening 154
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 153
Echistatin inhibits adhesion of murine melanoma cells to extracellular matrix components. 144
Detection of four novel mutations in the iduronate-2-sulfatase gene 142
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency 138
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 138
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients 135
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA. 134
Effect of rat liver cytosolic enzymes and cofactors on mutagenicity of 1-amino,8-nitropyrene 130
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 130
A new case of M/SCHAD deficiency: The contribution of metabolic findings in directing the definitive genetic diagnosis for an optimal management 129
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease. 128
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations 128
Influence of conjugation reactions on mammalian metabolism and DNA covalent binding of dinitropyrenes 126
Extraneurologic symptoms as presenting signs of Sanfilippo Disease 121
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome) 121
Mutazioni a differente esito nella metilmalonico acidemia di tipo mut0 ripropongono il problema del timing nello screening metabolico allargato 121
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl 120
Enhancement of tissue lipoperoxidation in propanil-treated rats 119
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease. 119
Heparan N-sulfatase gene: two novel mutations and transient expression of fifteen defects. 117
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II 117
Effect of avarol and avarone on in vitro-induced microsomal lipid peroxidation 114
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 113
Correction of mucopolysaccharidosis type IIIB fibroblasts by lentiviral vector-mediated gene transfer 113
Maroteaux-Lamy syndrome: five novel mutations and their structural localization 112
Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector 110
Analisi del covalent binding dei dinitropireni al DNA in cellule di epatoma umano in coltura HepG2 109
Expression of five iduronate-2-sulfatase site-directed mutations 108
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene 108
Effetti delle disintegrine, proteine estratte dal veleno di vipere, sui meccanismi di adesione cellulare 108
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector 107
Maternal VitaminB12 deficiency detected in expanded newborn screening 107
Molecular defects in the alfa-N-acetylglucosaminidase gene in Italian Sanfilippo B patients 105
Effect of rat liver cytosolic enzymes and cofactors on mutagenicity of 1-amino,8-nitropyrene. 105
Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele 103
Large deletion involving exon 5 of the ARSB gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient 103
Detection of four novel mutations in the iduronate-2-sulphatase gene 102
Mucopolysaccharidoses types I and IIIB: gene therapy by lentiviral vectors 102
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome). 101
In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors 99
Identificazione e caratterizzazione di mutazioni sul gene per l'alfa-N-acetilglucosaminidasi 99
Molecular analysis of DNA adducts and hprt mutations produced by 6-nitrosochrysene in Chinese hamster ovary cells 97
Trasferimento mediato da lentivirus del cDNA umano per l'enzima NAGLU in fibroblasti di pazienti con mucopolisaccaridosi IIIB 97
Gene therapy for mucopolysaccharidosis type I and type IIIB by lentiviral vectors 97
Treatment of mucopolysaccharidosis type I by lentiviral vector transducing the human alfa-L-iduronidase gene 97
Unfolded Protein Response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated 97
Mucopolisaccaridosi tipo II (sindrome di Hunter): identificazione dello stato di portatrice della malattia mediante analisi delle mutazioni 96
Expression studies of Sanfilippo A mutations 94
Molecular defects in the alfa-N-acetylglucosaminidase gene 94
Two novel mutations of the arylsulfatase B gene in two Italian patients with the severe form of mucopolysaccharidosis VI 93
Lentiviral vectors-mediated gene therapy for mucopolysaccharidosis type IIIB 93
Analysis of Sanfilippo A gene mutations in a large pedigree. 92
Heparin sulfamidase S66W allele: the first early prenatal diagnosis of Sanfilippo type A syndrome 92
Mucopolysaccharidoses: from gene defect to protein expression 92
Characterization of five iduronate-2-sulfatase site-directed mutations 92
Detection of four novel mutations in the iduronate-2-sulfatase gene. 91
Analisi di mutazioni in pazienti Hunter 88
Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. 88
Influence of Sex on Urinary Organic Acids: A Cross‐Sectional Study in Children 88
Identification of molecular alterations in Sanfilippo B patients 86
Coexistence of mutations R315X and g.99367-102002del both involving the exon 5 of ARSB gene caused a misdiagnosis for a MPS VI patient. 85
Lentiviral vector-mediated gene therapy for Sanfilippo B syndrome (MPS IIIB) 84
Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB. 82
Mucopolysaccharidosis type II: identification of six novel mutations in italian patients. 79
Vettori lentivirali come strumenti per la terapia genica delle mucopolisaccaridosi I e IIIB 79
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease. 78
Mucopolisaccaridosi IIIA: espressione in vitro di 15 difetti molecolari 78
Mucopolysaccharidoses: from gene defect to protein expression 78
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro 77
Gene therapy of Sanfilippo type B syndrome using a lentiviral vector 77
L'echistatina inibisce l'adesione di cellule di melanoma murino B16-BL6 ai componenti della matrice extracellulare 75
Bone Marrow transplantation in a Hunter patient with P266H mutation 74
Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis. 73
“Analisi delle mutazioni nel gene dell'iduronato-2-solfatasi in pazienti Hunter” 72
Metabolic-activation of Dinitropyrenes By Human Liver Fractions 71
Hurler disease bone marrow stromal cells exhibit altered ability to support osteoclast formation 71
“Analisi delle mutazioni nel gene dell' IDS in pazienti Hunter” 70
Studi di metabolismo della 3,4-dicloroanilina 66
Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis of mucopolysaccharidosis IIIB 65
“Mucopolisaccaridosi: studio del difetto molecolare in pazienti italiani e approccio di terapia genica” 64
“Identificazione di due nuove mutazioni in pazienti Maroteaux-Lamy italiani” 63
Molecular pathology of mucopolysaccaridosis IIIB 62
Fabry disease associated with G6PD definciency 62
MPS VI disease: evaluation of molecular markers for the follow-up of enzyme replacement therapy 62
Molecular pathology of the mucopolysaccaridoses 61
Intracranial injections of lentiviral-NAGLU vector in MPS IIIB mice: effect of treatment on cytokines, neurotrophins and oxidative stress 58
A novel splicing mutation in a MPS II (Hunter syndrome) patient. 58
In vivo gene transfer for mucopolysaccharidosis type I and type IIIB animal models 51
Totale 17.885
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Categoria #
all - tutte 43.301
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 43.301
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022999 0 0 0 103 66 72 40 55 135 86 166 276
2022/20231.608 157 143 89 133 172 143 103 171 212 103 102 80
2023/20241.849 108 146 163 140 133 150 163 174 88 222 196 166
2024/20253.808 269 230 116 122 157 288 372 176 312 797 774 195
2025/20264.613 501 399 430 483 758 182 377 314 610 345 125 89
2026/2027766 128 152 142 344 0 0 0 0 0 0 0 0
Totale 17.885