IRIS
VILLANI, GUGLIELMO ROSARIO DOMENICO
 Distribuzione geografica
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Continente #
EU - Europa 5.991
NA - Nord America 1.864
AS - Asia 252
AF - Africa 29
SA - Sud America 16
OC - Oceania 2
Totale 8.154
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Nazione #
IT - Italia 4.927
US - Stati Uniti d'America 1.834
UA - Ucraina 403
CN - Cina 205
FR - Francia 123
DE - Germania 106
FI - Finlandia 99
IE - Irlanda 77
GB - Regno Unito 55
NL - Olanda 52
BE - Belgio 37
PL - Polonia 34
CA - Canada 28
CI - Costa d'Avorio 26
IN - India 24
SE - Svezia 24
CH - Svizzera 18
RO - Romania 16
BR - Brasile 15
VN - Vietnam 9
ES - Italia 4
IR - Iran 4
EG - Egitto 3
GR - Grecia 3
RU - Federazione Russa 3
DK - Danimarca 2
KZ - Kazakistan 2
AL - Albania 1
AU - Australia 1
AZ - Azerbaigian 1
BH - Bahrain 1
BY - Bielorussia 1
CO - Colombia 1
CY - Cipro 1
HR - Croazia 1
ID - Indonesia 1
IL - Israele 1
LT - Lituania 1
LV - Lettonia 1
MX - Messico 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PA - Panama 1
PT - Portogallo 1
SG - Singapore 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
TR - Turchia 1
Totale 8.154
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Città #
Chandler 379
Jacksonville 268
Rome 226
Milan 213
Naples 188
Millbury 124
Palermo 112
Napoli 110
Princeton 91
Ashburn 72
Beijing 63
Catania 59
Wilmington 59
Bologna 46
Florence 46
Nanjing 46
Turin 46
Dearborn 40
Bari 33
Waanrode 31
Amsterdam 29
Kronberg 24
Boston 22
Ottawa 21
Padova 19
Nanchang 18
Genova 17
Redwood City 17
Salerno 17
Verona 17
Ann Arbor 16
Caserta 16
Latina 16
Torino 15
Shenyang 14
Tianjin 14
Ancona 13
Bergamo 13
Hebei 13
Houston 13
Reggio Calabria 13
Des Moines 12
Genoa 12
Norwalk 12
Trieste 12
Changsha 11
Dallas 11
Messina 11
Augusta 10
Pune 10
Sant'angelo In Vado 10
Torre Annunziata 10
Trento 10
Brescia 9
Segrate 9
Boardman 8
Dong Ket 8
Eboli 8
Helsinki 8
Mumbai 8
San Felice A Cancello 8
Taranto 8
Torre del Greco 8
Campagna 7
Capaccio 7
Cosenza 7
Foggia 7
Guangzhou 7
Jesi 7
Mariano Comense 7
Novara 7
Parma 7
Pomigliano d'Arco 7
Seattle 7
São Paulo 7
Valsamoggia 7
Vicenza 7
Bolzano 6
Cagliari 6
Capaci 6
Casoria 6
Chiaravalle 6
Modena 6
Orange 6
Pescara 6
Quartu Sant'elena 6
Redmond 6
Romano Di Lombardia 6
San Giuliano Milanese 6
Udine 6
Andover 5
Arad 5
Atena Lucana 5
Avellino 5
Aversa 5
Bagheria 5
Busto Arsizio 5
Camparada 5
Capua 5
Como 5
Totale 3.048
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Nome #
Newborn screening: uno strumento per la diagnosi di difetti metabolici materni non diagnosticati 2.210
Deficit di vitamina B12 materna diagnosticati mediante screening neonatale allargato 2.119
Deficit di 3-Metilcrotonil-CoA Carbossilasi: identificazione di due nuove mutazioni 1.047
Diagnosi di malattie metaboliche su sospetto clinico a confronto con dati di screening metabolico allargato 211
Analisi del covalent binding dei dinitropireni al DNA in cellule di epatoma umano in coltura HepG2 61
Effetti delle disintegrine, proteine estratte dal veleno di vipere, sui meccanismi di adesione cellulare 55
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA. 55
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency 53
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl 53
Lentiviral vectors-mediated gene therapy for mucopolysaccharidosis type IIIB 48
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene 48
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients 47
Trasferimento mediato da lentivirus del cDNA umano per l'enzima NAGLU in fibroblasti di pazienti con mucopolisaccaridosi IIIB 47
Treatment of mucopolysaccharidosis type I by lentiviral vector transducing the human alfa-L-iduronidase gene 47
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 46
Characterization of five iduronate-2-sulfatase site-directed mutations 45
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector 45
Hypermethioninemia in Campania: Results from 10 years of newborn screening 45
Molecular defects in the alfa-N-acetylglucosaminidase gene 43
Lentiviral vector-mediated gene therapy for Sanfilippo B syndrome (MPS IIIB) 42
Detection of four novel mutations in the iduronate-2-sulfatase gene 42
Mucopolysaccharidoses types I and IIIB: gene therapy by lentiviral vectors 42
Heparin sulfamidase S66W allele: the first early prenatal diagnosis of Sanfilippo type A syndrome 40
Mucopolysaccharidoses: from gene defect to protein expression 40
Identificazione e caratterizzazione di mutazioni sul gene per l'alfa-N-acetilglucosaminidasi 40
Gene therapy for mucopolysaccharidosis type I and type IIIB by lentiviral vectors 40
Influence of conjugation reactions on mammalian metabolism and DNA covalent binding of dinitropyrenes 39
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 39
Analisi di mutazioni in pazienti Hunter 37
Echistatin inhibits adhesion of murine melanoma cells to extracellular matrix components. 37
Vettori lentivirali come strumenti per la terapia genica delle mucopolisaccaridosi I e IIIB 37
A real benefit of an extended neonatal screening 37
Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB. 36
Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele 35
Bone Marrow transplantation in a Hunter patient with P266H mutation 35
Gene therapy of Sanfilippo type B syndrome using a lentiviral vector 35
A new case of M/SCHAD deficiency: The contribution of metabolic findings in directing the definitive genetic diagnosis for an optimal management 35
Detection of four novel mutations in the iduronate-2-sulfatase gene. 34
Analysis of Sanfilippo A gene mutations in a large pedigree. 34
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 34
Detection of four novel mutations in the iduronate-2-sulphatase gene 33
Expression studies of Sanfilippo A mutations 33
Mucopolisaccaridosi IIIA: espressione in vitro di 15 difetti molecolari 33
Correction of mucopolysaccharidosis type IIIB fibroblasts by lentiviral vector-mediated gene transfer 32
“Analisi delle mutazioni nel gene dell' IDS in pazienti Hunter” 32
Identification of molecular alterations in Sanfilippo B patients 31
Effect of rat liver cytosolic enzymes and cofactors on mutagenicity of 1-amino,8-nitropyrene 30
Effect of rat liver cytosolic enzymes and cofactors on mutagenicity of 1-amino,8-nitropyrene. 30
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease. 29
Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector 29
Large deletion involving exon 5 of the ARSB gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient 29
Influence of Sex on Urinary Organic Acids: A Cross‐Sectional Study in Children 29
Mutazioni a differente esito nella metilmalonico acidemia di tipo mut0 ripropongono il problema del timing nello screening metabolico allargato 28
Effect of avarol and avarone on in vitro-induced microsomal lipid peroxidation 27
Mucopolysaccharidoses: from gene defect to protein expression 27
Expression of five iduronate-2-sulfatase site-directed mutations 26
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II 26
“Analisi delle mutazioni nel gene dell'iduronato-2-solfatasi in pazienti Hunter” 26
Heparan N-sulfatase gene: two novel mutations and transient expression of fifteen defects. 25
Extraneurologic symptoms as presenting signs of Sanfilippo Disease 25
Mutations among Italian Mucopolysaccharidosis type I patients 25
Molecular defects in the alfa-N-acetylglucosaminidase gene in Italian Sanfilippo B patients 24
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease. 24
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro 24
Maroteaux-Lamy syndrome: five novel mutations and their structural localization 23
Two novel mutations of the arylsulfatase B gene in two Italian patients with the severe form of mucopolysaccharidosis VI 23
Enhancement of tissue lipoperoxidation in propanil-treated rats 23
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations 23
Mucopolisaccaridosi tipo II (sindrome di Hunter): identificazione dello stato di portatrice della malattia mediante analisi delle mutazioni 22
Molecular analysis of DNA adducts and hprt mutations produced by 6-nitrosochrysene in Chinese hamster ovary cells 22
L'echistatina inibisce l'adesione di cellule di melanoma murino B16-BL6 ai componenti della matrice extracellulare 22
"Classical organic acidurias": diagnosis and pathogenesis. 22
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease. 21
Studi di metabolismo della 3,4-dicloroanilina 20
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome). 20
Mucopolysaccharidosis type II: identification of six novel mutations in italian patients. 19
In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors 19
Coexistence of mutations R315X and g.99367-102002del both involving the exon 5 of ARSB gene caused a misdiagnosis for a MPS VI patient. 19
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome) 19
Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis of mucopolysaccharidosis IIIB 18
Fabry disease associated with G6PD definciency 18
Unfolded Protein Response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated 18
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 16
Molecular pathology of the mucopolysaccaridoses 15
“Mucopolisaccaridosi: studio del difetto molecolare in pazienti italiani e approccio di terapia genica” 15
In vivo gene transfer for mucopolysaccharidosis type I and type IIIB animal models 13
Molecular pathology of mucopolysaccaridosis IIIB 13
Intracranial injections of lentiviral-NAGLU vector in MPS IIIB mice: effect of treatment on cytokines, neurotrophins and oxidative stress 13
Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. 13
Maternal VitaminB12 deficiency detected in expanded newborn screening 13
Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis. 12
Hurler disease bone marrow stromal cells exhibit altered ability to support osteoclast formation 12
“Identificazione di due nuove mutazioni in pazienti Maroteaux-Lamy italiani” 10
Metabolic-activation of Dinitropyrenes By Human Liver Fractions 10
A novel splicing mutation in a MPS II (Hunter syndrome) patient. 10
MPS VI disease: evaluation of molecular markers for the follow-up of enzyme replacement therapy 9
Totale 8.337
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Categoria #
all - tutte 16.517
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 16.517
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201998 0 0 0 0 0 0 0 0 0 0 52 46
2019/20201.030 130 19 102 45 113 85 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
2023/20241.488 108 146 163 140 133 150 163 174 88 222 1 0
Totale 8.337