IRIS
VILLANI, GUGLIELMO ROSARIO DOMENICO
 Distribuzione geografica
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Continente #
EU - Europa 6.963
NA - Nord America 2.141
AS - Asia 548
AF - Africa 30
SA - Sud America 16
OC - Oceania 3
Totale 9.701
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Nazione #
IT - Italia 5.800
US - Stati Uniti d'America 2.111
UA - Ucraina 405
SG - Singapore 284
CN - Cina 212
FR - Francia 135
DE - Germania 113
FI - Finlandia 107
NL - Olanda 78
IE - Irlanda 77
GB - Regno Unito 59
BE - Belgio 39
RU - Federazione Russa 37
PL - Polonia 34
CA - Canada 28
CI - Costa d'Avorio 26
IN - India 24
SE - Svezia 24
CH - Svizzera 19
RO - Romania 16
BR - Brasile 15
VN - Vietnam 9
ES - Italia 5
IR - Iran 4
AL - Albania 3
EG - Egitto 3
GR - Grecia 3
TR - Turchia 3
AU - Australia 2
DK - Danimarca 2
KZ - Kazakistan 2
TW - Taiwan 2
AZ - Azerbaigian 1
BH - Bahrain 1
BY - Bielorussia 1
CO - Colombia 1
CY - Cipro 1
DZ - Algeria 1
HR - Croazia 1
ID - Indonesia 1
IL - Israele 1
KG - Kirghizistan 1
KR - Corea 1
LT - Lituania 1
LV - Lettonia 1
MX - Messico 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PA - Panama 1
PT - Portogallo 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
Totale 9.701
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Città #
Chandler 379
Milan 301
Rome 290
Naples 271
Jacksonville 268
Singapore 243
Santa Clara 175
Palermo 132
Millbury 124
Napoli 110
Princeton 91
Ashburn 81
Turin 66
Beijing 63
Bologna 63
Catania 63
Wilmington 59
Florence 52
Nanjing 46
Dearborn 40
Bari 37
Waanrode 31
Amsterdam 30
Padova 26
Kronberg 24
Boston 22
Ottawa 21
Salerno 21
Genoa 20
Latina 19
Nanchang 18
Genova 17
Redwood City 17
Verona 17
Ann Arbor 16
Caserta 16
Helsinki 16
Moscow 16
Reggio Calabria 16
Bergamo 15
Torino 15
Ancona 14
Dallas 14
Shenyang 14
Tianjin 14
Trieste 14
Brescia 13
Hebei 13
Houston 13
Messina 13
Pescara 13
Des Moines 12
Norwalk 12
Changsha 11
Parma 11
Senigallia 11
Augusta 10
Pune 10
Sant'angelo In Vado 10
Seattle 10
Torre Annunziata 10
Trento 10
Segrate 9
Vicenza 9
Afragola 8
Boardman 8
Dong Ket 8
Eboli 8
Mumbai 8
Reggio Emilia 8
San Felice A Cancello 8
Taranto 8
Torre del Greco 8
Udine 8
Campagna 7
Capaccio 7
Cosenza 7
Foggia 7
Guangzhou 7
Jesi 7
Mariano Comense 7
Novara 7
Pomigliano d'Arco 7
Rende 7
São Paulo 7
Valsamoggia 7
Alcamo 6
Avellino 6
Bolzano 6
Cagliari 6
Capaci 6
Casoria 6
Chiaravalle 6
Formia 6
Macerata 6
Modena 6
Montelupone 6
Montesilvano Marina 6
Orange 6
Perugia 6
Totale 3.865
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Nome #
Newborn screening: uno strumento per la diagnosi di difetti metabolici materni non diagnosticati 2.689
Deficit di vitamina B12 materna diagnosticati mediante screening neonatale allargato 2.303
Deficit di 3-Metilcrotonil-CoA Carbossilasi: identificazione di due nuove mutazioni 1.284
Diagnosi di malattie metaboliche su sospetto clinico a confronto con dati di screening metabolico allargato 247
Effetti delle disintegrine, proteine estratte dal veleno di vipere, sui meccanismi di adesione cellulare 66
Analisi del covalent binding dei dinitropireni al DNA in cellule di epatoma umano in coltura HepG2 65
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA. 64
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency 63
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl 62
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene 55
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 55
Lentiviral vectors-mediated gene therapy for mucopolysaccharidosis type IIIB 54
Treatment of mucopolysaccharidosis type I by lentiviral vector transducing the human alfa-L-iduronidase gene 54
Hypermethioninemia in Campania: Results from 10 years of newborn screening 52
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients 51
Trasferimento mediato da lentivirus del cDNA umano per l'enzima NAGLU in fibroblasti di pazienti con mucopolisaccaridosi IIIB 51
Characterization of five iduronate-2-sulfatase site-directed mutations 50
Gene therapy for mucopolysaccharidosis type I and type IIIB by lentiviral vectors 49
Molecular defects in the alfa-N-acetylglucosaminidase gene 49
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 49
A real benefit of an extended neonatal screening 49
Lentiviral vector-mediated gene therapy for Sanfilippo B syndrome (MPS IIIB) 48
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector 48
Heparin sulfamidase S66W allele: the first early prenatal diagnosis of Sanfilippo type A syndrome 46
Mucopolysaccharidoses types I and IIIB: gene therapy by lentiviral vectors 46
Identificazione e caratterizzazione di mutazioni sul gene per l'alfa-N-acetilglucosaminidasi 45
Influence of conjugation reactions on mammalian metabolism and DNA covalent binding of dinitropyrenes 45
Detection of four novel mutations in the iduronate-2-sulfatase gene 44
Vettori lentivirali come strumenti per la terapia genica delle mucopolisaccaridosi I e IIIB 44
Mucopolysaccharidoses: from gene defect to protein expression 43
Analysis of Sanfilippo A gene mutations in a large pedigree. 42
Echistatin inhibits adhesion of murine melanoma cells to extracellular matrix components. 42
Expression studies of Sanfilippo A mutations 42
Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB. 42
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 42
A new case of M/SCHAD deficiency: The contribution of metabolic findings in directing the definitive genetic diagnosis for an optimal management 42
Effect of rat liver cytosolic enzymes and cofactors on mutagenicity of 1-amino,8-nitropyrene 41
Analisi di mutazioni in pazienti Hunter 41
Detection of four novel mutations in the iduronate-2-sulphatase gene 40
Detection of four novel mutations in the iduronate-2-sulfatase gene. 39
Correction of mucopolysaccharidosis type IIIB fibroblasts by lentiviral vector-mediated gene transfer 39
Gene therapy of Sanfilippo type B syndrome using a lentiviral vector 39
Mutazioni a differente esito nella metilmalonico acidemia di tipo mut0 ripropongono il problema del timing nello screening metabolico allargato 39
Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele 38
Bone Marrow transplantation in a Hunter patient with P266H mutation 38
Mucopolisaccaridosi IIIA: espressione in vitro di 15 difetti molecolari 37
Influence of Sex on Urinary Organic Acids: A Cross‐Sectional Study in Children 37
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease. 35
Identification of molecular alterations in Sanfilippo B patients 35
Mucopolysaccharidoses: from gene defect to protein expression 35
Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector 35
“Analisi delle mutazioni nel gene dell' IDS in pazienti Hunter” 35
Effect of rat liver cytosolic enzymes and cofactors on mutagenicity of 1-amino,8-nitropyrene. 34
Large deletion involving exon 5 of the ARSB gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient 34
Molecular defects in the alfa-N-acetylglucosaminidase gene in Italian Sanfilippo B patients 33
Mutations among Italian Mucopolysaccharidosis type I patients 33
L'echistatina inibisce l'adesione di cellule di melanoma murino B16-BL6 ai componenti della matrice extracellulare 33
Heparan N-sulfatase gene: two novel mutations and transient expression of fifteen defects. 32
Extraneurologic symptoms as presenting signs of Sanfilippo Disease 32
Effect of avarol and avarone on in vitro-induced microsomal lipid peroxidation 32
Mucopolisaccaridosi tipo II (sindrome di Hunter): identificazione dello stato di portatrice della malattia mediante analisi delle mutazioni 32
Maroteaux-Lamy syndrome: five novel mutations and their structural localization 31
Two novel mutations of the arylsulfatase B gene in two Italian patients with the severe form of mucopolysaccharidosis VI 30
Enhancement of tissue lipoperoxidation in propanil-treated rats 30
Expression of five iduronate-2-sulfatase site-directed mutations 30
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II 30
“Analisi delle mutazioni nel gene dell'iduronato-2-solfatasi in pazienti Hunter” 30
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome) 30
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease. 29
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations 29
"Classical organic acidurias": diagnosis and pathogenesis. 29
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro 28
Mucopolysaccharidosis type II: identification of six novel mutations in italian patients. 27
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome). 27
Molecular analysis of DNA adducts and hprt mutations produced by 6-nitrosochrysene in Chinese hamster ovary cells 26
Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis of mucopolysaccharidosis IIIB 26
Coexistence of mutations R315X and g.99367-102002del both involving the exon 5 of ARSB gene caused a misdiagnosis for a MPS VI patient. 26
“Mucopolisaccaridosi: studio del difetto molecolare in pazienti italiani e approccio di terapia genica” 25
Fabry disease associated with G6PD definciency 25
Unfolded Protein Response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated 25
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 24
“Identificazione di due nuove mutazioni in pazienti Maroteaux-Lamy italiani” 24
In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors 23
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease. 23
Studi di metabolismo della 3,4-dicloroanilina 23
Molecular pathology of the mucopolysaccaridoses 22
Molecular pathology of mucopolysaccaridosis IIIB 21
Intracranial injections of lentiviral-NAGLU vector in MPS IIIB mice: effect of treatment on cytokines, neurotrophins and oxidative stress 21
Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. 21
Maternal VitaminB12 deficiency detected in expanded newborn screening 21
In vivo gene transfer for mucopolysaccharidosis type I and type IIIB animal models 19
Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis. 19
A novel splicing mutation in a MPS II (Hunter syndrome) patient. 19
Hurler disease bone marrow stromal cells exhibit altered ability to support osteoclast formation 18
Metabolic-activation of Dinitropyrenes By Human Liver Fractions 17
MPS VI disease: evaluation of molecular markers for the follow-up of enzyme replacement therapy 17
Totale 9.885
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Categoria #
all - tutte 22.341
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 22.341
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020536 0 0 0 0 0 0 75 52 69 95 101 144
2020/20211.608 73 186 150 175 209 128 137 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
2024/20251.187 269 230 116 122 157 288 5 0 0 0 0 0
Totale 9.885