IRIS
VILLANI, GUGLIELMO ROSARIO DOMENICO
 Distribuzione geografica
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Continente #
EU - Europa 9.642
NA - Nord America 3.487
AS - Asia 3.437
SA - Sud America 485
Continente sconosciuto - Info sul continente non disponibili 185
AF - Africa 86
OC - Oceania 5
Totale 17.327
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Nazione #
IT - Italia 6.838
US - Stati Uniti d'America 3.369
SG - Singapore 1.407
RU - Federazione Russa 1.067
VN - Vietnam 816
CN - Cina 579
UA - Ucraina 417
BR - Brasile 393
FR - Francia 278
HK - Hong Kong 262
NL - Olanda 190
SE - Svezia 182
DE - Germania 176
FI - Finlandia 120
GB - Regno Unito 101
IE - Irlanda 78
JP - Giappone 70
IN - India 65
CA - Canada 63
PL - Polonia 49
BD - Bangladesh 43
BE - Belgio 39
AR - Argentina 36
MX - Messico 29
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
PK - Pakistan 15
PH - Filippine 14
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 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
ET - Etiopia 5
MA - Marocco 5
NP - Nepal 5
CR - Costa Rica 4
IR - Iran 4
JM - Giamaica 4
KE - Kenya 4
UY - Uruguay 4
AU - Australia 3
DZ - Algeria 3
GR - Grecia 3
IL - Israele 3
KW - Kuwait 3
LK - Sri Lanka 3
NG - Nigeria 3
PA - Panama 3
PE - Perù 3
TT - Trinidad e Tobago 3
AO - Angola 2
AZ - Azerbaigian 2
BB - Barbados 2
BZ - Belize 2
CY - Cipro 2
DK - Danimarca 2
KG - Kirghizistan 2
LB - Libano 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
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
JO - Giordania 1
KH - Cambogia 1
KY - Cayman, isole 1
LC - Santa Lucia 1
Totale 17.126
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Città #
Singapore 637
Chandler 379
Milan 378
Rome 378
Naples 369
San Jose 314
Jacksonville 268
Beijing 262
Hong Kong 243
Moscow 221
Ashburn 219
Ho Chi Minh City 214
Santa Clara 192
Palermo 171
Stockholm 158
Hanoi 142
Millbury 124
Napoli 110
Bologna 94
Princeton 91
Lauterbourg 89
The Dalles 80
Catania 79
Florence 72
Los Angeles 72
Turin 72
Tokyo 61
Wilmington 60
Bari 49
Council Bluffs 47
Nanjing 46
New York 45
Amsterdam 43
Buffalo 43
Dearborn 40
São Paulo 38
Dallas 32
Padova 32
Waanrode 31
Da Nang 30
Genoa 27
Houston 27
Boston 26
Redondo Beach 26
Haiphong 24
Kronberg 24
Salerno 23
Helsinki 21
Ottawa 21
Nuremberg 20
Pescara 20
Brescia 19
Latina 19
Reggio Calabria 19
Bergamo 18
Brooklyn 18
Nanchang 18
Verona 18
Caserta 17
Genova 17
Redwood City 17
Rio de Janeiro 17
Seattle 17
Afragola 16
Ancona 16
Ann Arbor 16
Munich 16
Orem 15
Tianjin 15
Torino 15
Warsaw 15
Changsha 14
Chennai 14
Denver 14
Hefei 14
Hải Dương 14
Senigallia 14
Shenyang 14
Toronto 14
Trieste 14
Chicago 13
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
Frankfurt am Main 11
Johannesburg 11
Reggio Emilia 11
Vicenza 11
Atlanta 10
Boardman 10
Castellammare di Stabia 10
Totale 6.987
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Nome #
Newborn screening: uno strumento per la diagnosi di difetti metabolici materni non diagnosticati 3.360
Deficit di vitamina B12 materna diagnosticati mediante screening neonatale allargato 2.708
Deficit di 3-Metilcrotonil-CoA Carbossilasi: identificazione di due nuove mutazioni 1.677
"Classical organic acidurias": diagnosis and pathogenesis. 553
Diagnosi di malattie metaboliche su sospetto clinico a confronto con dati di screening metabolico allargato 362
Mutations among Italian Mucopolysaccharidosis type I patients 170
Hypermethioninemia in Campania: Results from 10 years of newborn screening 159
A real benefit of an extended neonatal screening 147
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 144
Echistatin inhibits adhesion of murine melanoma cells to extracellular matrix components. 139
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency 134
Detection of four novel mutations in the iduronate-2-sulfatase gene 133
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 132
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA. 129
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients 128
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 128
Effect of rat liver cytosolic enzymes and cofactors on mutagenicity of 1-amino,8-nitropyrene 126
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations 125
A new case of M/SCHAD deficiency: The contribution of metabolic findings in directing the definitive genetic diagnosis for an optimal management 124
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease. 120
Extraneurologic symptoms as presenting signs of Sanfilippo Disease 119
Influence of conjugation reactions on mammalian metabolism and DNA covalent binding of dinitropyrenes 119
Mutazioni a differente esito nella metilmalonico acidemia di tipo mut0 ripropongono il problema del timing nello screening metabolico allargato 117
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl 117
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome) 116
Enhancement of tissue lipoperoxidation in propanil-treated rats 115
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease. 114
Heparan N-sulfatase gene: two novel mutations and transient expression of fifteen defects. 113
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II 112
Correction of mucopolysaccharidosis type IIIB fibroblasts by lentiviral vector-mediated gene transfer 110
Effect of avarol and avarone on in vitro-induced microsomal lipid peroxidation 110
Maroteaux-Lamy syndrome: five novel mutations and their structural localization 107
Analisi del covalent binding dei dinitropireni al DNA in cellule di epatoma umano in coltura HepG2 107
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 106
Expression of five iduronate-2-sulfatase site-directed mutations 106
Effetti delle disintegrine, proteine estratte dal veleno di vipere, sui meccanismi di adesione cellulare 106
Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector 103
Maternal VitaminB12 deficiency detected in expanded newborn screening 102
Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele 100
Effect of rat liver cytosolic enzymes and cofactors on mutagenicity of 1-amino,8-nitropyrene. 100
Mucopolysaccharidoses types I and IIIB: gene therapy by lentiviral vectors 100
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector 99
Detection of four novel mutations in the iduronate-2-sulphatase gene 98
Molecular defects in the alfa-N-acetylglucosaminidase gene in Italian Sanfilippo B patients 97
Identificazione e caratterizzazione di mutazioni sul gene per l'alfa-N-acetilglucosaminidasi 97
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome). 97
Large deletion involving exon 5 of the ARSB gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient 96
In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors 95
Gene therapy for mucopolysaccharidosis type I and type IIIB by lentiviral vectors 95
Trasferimento mediato da lentivirus del cDNA umano per l'enzima NAGLU in fibroblasti di pazienti con mucopolisaccaridosi IIIB 94
Treatment of mucopolysaccharidosis type I by lentiviral vector transducing the human alfa-L-iduronidase gene 94
Molecular analysis of DNA adducts and hprt mutations produced by 6-nitrosochrysene in Chinese hamster ovary cells 92
Expression studies of Sanfilippo A mutations 92
Molecular defects in the alfa-N-acetylglucosaminidase gene 92
Mucopolisaccaridosi tipo II (sindrome di Hunter): identificazione dello stato di portatrice della malattia mediante analisi delle mutazioni 91
Lentiviral vectors-mediated gene therapy for mucopolysaccharidosis type IIIB 91
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene 91
Unfolded Protein Response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated 91
Heparin sulfamidase S66W allele: the first early prenatal diagnosis of Sanfilippo type A syndrome 90
Mucopolysaccharidoses: from gene defect to protein expression 90
Characterization of five iduronate-2-sulfatase site-directed mutations 90
Two novel mutations of the arylsulfatase B gene in two Italian patients with the severe form of mucopolysaccharidosis VI 87
Analysis of Sanfilippo A gene mutations in a large pedigree. 86
Detection of four novel mutations in the iduronate-2-sulfatase gene. 85
Analisi di mutazioni in pazienti Hunter 84
Identification of molecular alterations in Sanfilippo B patients 84
Influence of Sex on Urinary Organic Acids: A Cross‐Sectional Study in Children 84
Lentiviral vector-mediated gene therapy for Sanfilippo B syndrome (MPS IIIB) 82
Vettori lentivirali come strumenti per la terapia genica delle mucopolisaccaridosi I e IIIB 77
Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. 77
Mucopolysaccharidosis type II: identification of six novel mutations in italian patients. 76
Mucopolisaccaridosi IIIA: espressione in vitro di 15 difetti molecolari 76
Mucopolysaccharidoses: from gene defect to protein expression 76
Coexistence of mutations R315X and g.99367-102002del both involving the exon 5 of ARSB gene caused a misdiagnosis for a MPS VI patient. 75
Gene therapy of Sanfilippo type B syndrome using a lentiviral vector 74
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease. 73
L'echistatina inibisce l'adesione di cellule di melanoma murino B16-BL6 ai componenti della matrice extracellulare 72
Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB. 72
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro 70
Bone Marrow transplantation in a Hunter patient with P266H mutation 69
“Analisi delle mutazioni nel gene dell'iduronato-2-solfatasi in pazienti Hunter” 69
Metabolic-activation of Dinitropyrenes By Human Liver Fractions 69
“Analisi delle mutazioni nel gene dell' IDS in pazienti Hunter” 68
Hurler disease bone marrow stromal cells exhibit altered ability to support osteoclast formation 67
Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis. 66
Studi di metabolismo della 3,4-dicloroanilina 64
“Mucopolisaccaridosi: studio del difetto molecolare in pazienti italiani e approccio di terapia genica” 62
Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis of mucopolysaccharidosis IIIB 61
Molecular pathology of mucopolysaccaridosis IIIB 60
“Identificazione di due nuove mutazioni in pazienti Maroteaux-Lamy italiani” 60
Fabry disease associated with G6PD definciency 60
Molecular pathology of the mucopolysaccaridoses 59
MPS VI disease: evaluation of molecular markers for the follow-up of enzyme replacement therapy 57
A novel splicing mutation in a MPS II (Hunter syndrome) patient. 55
Intracranial injections of lentiviral-NAGLU vector in MPS IIIB mice: effect of treatment on cytokines, neurotrophins and oxidative stress 53
In vivo gene transfer for mucopolysaccharidosis type I and type IIIB animal models 49
Totale 17.327
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Categoria #
all - tutte 41.064
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 41.064
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.134 0 69 66 103 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
2026/2027208 128 80 0 0 0 0 0 0 0 0 0 0
Totale 17.327