IRIS
VILLANI, GUGLIELMO ROSARIO DOMENICO
 Distribuzione geografica
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Continente #
EU - Europa 9.227
NA - Nord America 2.764
AS - Asia 2.592
SA - Sud America 449
AF - Africa 70
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 1
Totale 15.108
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Nazione #
IT - Italia 6.594
US - Stati Uniti d'America 2.687
SG - Singapore 1.354
RU - Federazione Russa 1.067
CN - Cina 509
UA - Ucraina 413
BR - Brasile 372
VN - Vietnam 314
HK - Hong Kong 234
SE - Svezia 182
NL - Olanda 169
DE - Germania 167
FR - Francia 160
FI - Finlandia 119
GB - Regno Unito 90
IE - Irlanda 78
CA - Canada 50
PL - Polonia 49
IN - India 45
BE - Belgio 39
AR - Argentina 31
CI - Costa d'Avorio 26
CH - Svizzera 22
MX - Messico 21
BD - Bangladesh 19
ES - Italia 19
RO - Romania 17
ID - Indonesia 16
TR - Turchia 16
ZA - Sudafrica 16
PK - Pakistan 12
AT - Austria 11
EC - Ecuador 11
JP - Giappone 10
CO - Colombia 8
CL - Cile 7
IQ - Iraq 7
LT - Lituania 7
PY - Paraguay 7
SA - Arabia Saudita 7
AE - Emirati Arabi Uniti 6
AL - Albania 6
VE - Venezuela 6
EG - Egitto 5
IR - Iran 4
KZ - Kazakistan 4
MA - Marocco 4
TW - Taiwan 4
AU - Australia 3
GR - Grecia 3
IL - Israele 3
LK - Sri Lanka 3
PE - Perù 3
UY - Uruguay 3
UZ - Uzbekistan 3
AO - Angola 2
AZ - Azerbaigian 2
BZ - Belize 2
CY - Cipro 2
DK - Danimarca 2
DZ - Algeria 2
KE - Kenya 2
KG - Kirghizistan 2
KR - Corea 2
KW - Kuwait 2
NG - Nigeria 2
NP - Nepal 2
PA - Panama 2
PT - Portogallo 2
RS - Serbia 2
SN - Senegal 2
TH - Thailandia 2
TN - Tunisia 2
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BY - Bielorussia 1
CZ - Repubblica Ceca 1
ET - Etiopia 1
GA - Gabon 1
GE - Georgia 1
GM - Gambi 1
HR - Croazia 1
HU - Ungheria 1
JO - Giordania 1
LV - Lettonia 1
LY - Libia 1
MK - Macedonia 1
MR - Mauritania 1
MZ - Mozambico 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
OM - Oman 1
PH - Filippine 1
RE - Reunion 1
SK - Slovacchia (Repubblica Slovacca) 1
TT - Trinidad e Tobago 1
Totale 15.105
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Città #
Singapore 590
Chandler 379
Milan 363
Naples 353
Rome 353
Jacksonville 268
Beijing 251
Hong Kong 232
Moscow 221
Santa Clara 183
Palermo 167
Ashburn 163
Stockholm 158
Millbury 124
Napoli 110
Princeton 91
Bologna 87
Catania 75
Florence 72
Turin 71
Ho Chi Minh City 68
Los Angeles 62
Wilmington 60
Bari 47
Nanjing 46
Buffalo 40
Dearborn 40
Amsterdam 37
São Paulo 35
Hanoi 33
Padova 32
Waanrode 31
Dallas 29
The Dalles 29
New York 28
Genoa 27
Boston 26
Redondo Beach 26
Kronberg 24
Houston 23
Salerno 23
San Jose 22
Ottawa 21
Helsinki 20
Latina 19
Nuremberg 19
Reggio Calabria 19
Bergamo 18
Brescia 18
Nanchang 18
Pescara 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
Brooklyn 15
Tianjin 15
Torino 15
Warsaw 15
Changsha 14
Hefei 14
Senigallia 14
Shenyang 14
Trieste 14
Hebei 13
Messina 13
Parma 13
Taranto 13
Augusta 12
Capaccio 12
Des Moines 12
Norwalk 12
Toronto 12
Venice 12
Chennai 11
Denver 11
Mexico City 11
Reggio Emilia 11
Boardman 10
Johannesburg 10
Modena 10
Mumbai 10
Novara 10
Perugia 10
Pune 10
Sant'angelo In Vado 10
Torre Annunziata 10
Trento 10
Chicago 9
Cosenza 9
Guangzhou 9
London 9
Orta di Atella 9
Segrate 9
Totale 5.888
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Nome #
Newborn screening: uno strumento per la diagnosi di difetti metabolici materni non diagnosticati 3.168
Deficit di vitamina B12 materna diagnosticati mediante screening neonatale allargato 2.585
Deficit di 3-Metilcrotonil-CoA Carbossilasi: identificazione di due nuove mutazioni 1.556
"Classical organic acidurias": diagnosis and pathogenesis. 534
Diagnosi di malattie metaboliche su sospetto clinico a confronto con dati di screening metabolico allargato 315
Mutations among Italian Mucopolysaccharidosis type I patients 147
Hypermethioninemia in Campania: Results from 10 years of newborn screening 128
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 124
A real benefit of an extended neonatal screening 120
Echistatin inhibits adhesion of murine melanoma cells to extracellular matrix components. 119
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency 114
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients 113
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 113
Detection of four novel mutations in the iduronate-2-sulfatase gene 112
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA. 109
Effect of rat liver cytosolic enzymes and cofactors on mutagenicity of 1-amino,8-nitropyrene 107
Extraneurologic symptoms as presenting signs of Sanfilippo Disease 105
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 105
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl 104
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations 102
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease. 97
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease. 96
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome) 96
A new case of M/SCHAD deficiency: The contribution of metabolic findings in directing the definitive genetic diagnosis for an optimal management 96
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II 95
Heparan N-sulfatase gene: two novel mutations and transient expression of fifteen defects. 94
Effect of avarol and avarone on in vitro-induced microsomal lipid peroxidation 94
Effetti delle disintegrine, proteine estratte dal veleno di vipere, sui meccanismi di adesione cellulare 94
Maroteaux-Lamy syndrome: five novel mutations and their structural localization 93
Enhancement of tissue lipoperoxidation in propanil-treated rats 92
Influence of conjugation reactions on mammalian metabolism and DNA covalent binding of dinitropyrenes 92
Analisi del covalent binding dei dinitropireni al DNA in cellule di epatoma umano in coltura HepG2 92
Effect of rat liver cytosolic enzymes and cofactors on mutagenicity of 1-amino,8-nitropyrene. 91
Correction of mucopolysaccharidosis type IIIB fibroblasts by lentiviral vector-mediated gene transfer 90
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 88
Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele 88
Detection of four novel mutations in the iduronate-2-sulphatase gene 87
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector 87
Expression of five iduronate-2-sulfatase site-directed mutations 86
Mutazioni a differente esito nella metilmalonico acidemia di tipo mut0 ripropongono il problema del timing nello screening metabolico allargato 84
In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors 83
Maternal VitaminB12 deficiency detected in expanded newborn screening 83
Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector 82
Large deletion involving exon 5 of the ARSB gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient 82
Gene therapy for mucopolysaccharidosis type I and type IIIB by lentiviral vectors 78
Treatment of mucopolysaccharidosis type I by lentiviral vector transducing the human alfa-L-iduronidase gene 78
Mucopolysaccharidoses types I and IIIB: gene therapy by lentiviral vectors 78
Molecular defects in the alfa-N-acetylglucosaminidase gene in Italian Sanfilippo B patients 77
Molecular analysis of DNA adducts and hprt mutations produced by 6-nitrosochrysene in Chinese hamster ovary cells 77
Trasferimento mediato da lentivirus del cDNA umano per l'enzima NAGLU in fibroblasti di pazienti con mucopolisaccaridosi IIIB 77
Lentiviral vectors-mediated gene therapy for mucopolysaccharidosis type IIIB 77
Characterization of five iduronate-2-sulfatase site-directed mutations 77
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene 76
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome). 74
Lentiviral vector-mediated gene therapy for Sanfilippo B syndrome (MPS IIIB) 73
Analisi di mutazioni in pazienti Hunter 72
Molecular defects in the alfa-N-acetylglucosaminidase gene 72
Mucopolisaccaridosi tipo II (sindrome di Hunter): identificazione dello stato di portatrice della malattia mediante analisi delle mutazioni 71
Detection of four novel mutations in the iduronate-2-sulfatase gene. 70
Two novel mutations of the arylsulfatase B gene in two Italian patients with the severe form of mucopolysaccharidosis VI 70
Mucopolysaccharidoses: from gene defect to protein expression 70
Identificazione e caratterizzazione di mutazioni sul gene per l'alfa-N-acetilglucosaminidasi 70
Influence of Sex on Urinary Organic Acids: A Cross‐Sectional Study in Children 70
Heparin sulfamidase S66W allele: the first early prenatal diagnosis of Sanfilippo type A syndrome 69
Expression studies of Sanfilippo A mutations 69
Analysis of Sanfilippo A gene mutations in a large pedigree. 68
Identification of molecular alterations in Sanfilippo B patients 67
Vettori lentivirali come strumenti per la terapia genica delle mucopolisaccaridosi I e IIIB 67
Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. 65
Unfolded Protein Response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated 65
Gene therapy of Sanfilippo type B syndrome using a lentiviral vector 63
Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB. 63
Mucopolysaccharidoses: from gene defect to protein expression 62
L'echistatina inibisce l'adesione di cellule di melanoma murino B16-BL6 ai componenti della matrice extracellulare 62
Bone Marrow transplantation in a Hunter patient with P266H mutation 61
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro 59
Mucopolisaccaridosi IIIA: espressione in vitro di 15 difetti molecolari 59
Coexistence of mutations R315X and g.99367-102002del both involving the exon 5 of ARSB gene caused a misdiagnosis for a MPS VI patient. 59
“Analisi delle mutazioni nel gene dell'iduronato-2-solfatasi in pazienti Hunter” 58
Mucopolysaccharidosis type II: identification of six novel mutations in italian patients. 57
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease. 56
Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis. 54
“Analisi delle mutazioni nel gene dell' IDS in pazienti Hunter” 54
“Mucopolisaccaridosi: studio del difetto molecolare in pazienti italiani e approccio di terapia genica” 52
Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis of mucopolysaccharidosis IIIB 51
Studi di metabolismo della 3,4-dicloroanilina 50
“Identificazione di due nuove mutazioni in pazienti Maroteaux-Lamy italiani” 49
Fabry disease associated with G6PD definciency 49
Hurler disease bone marrow stromal cells exhibit altered ability to support osteoclast formation 49
MPS VI disease: evaluation of molecular markers for the follow-up of enzyme replacement therapy 49
Metabolic-activation of Dinitropyrenes By Human Liver Fractions 47
Molecular pathology of the mucopolysaccaridoses 45
Molecular pathology of mucopolysaccaridosis IIIB 45
Intracranial injections of lentiviral-NAGLU vector in MPS IIIB mice: effect of treatment on cytokines, neurotrophins and oxidative stress 41
A novel splicing mutation in a MPS II (Hunter syndrome) patient. 41
In vivo gene transfer for mucopolysaccharidosis type I and type IIIB animal models 38
Totale 15.292
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Categoria #
all - tutte 34.678
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 34.678
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021687 0 0 0 0 0 0 137 79 184 83 124 80
2021/20221.190 56 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
2025/20262.786 501 399 430 483 758 182 33 0 0 0 0 0
Totale 15.292