IRIS
NIGRO, Vincenzo
 Distribuzione geografica
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Continente #
EU - Europa 20.792
NA - Nord America 10.659
AS - Asia 9.155
SA - Sud America 1.567
Continente sconosciuto - Info sul continente non disponibili 722
AF - Africa 112
OC - Oceania 20
Totale 43.027
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Nazione #
RU - Federazione Russa 13.604
US - Stati Uniti d'America 10.439
SG - Singapore 3.138
IE - Irlanda 2.195
CN - Cina 1.983
HK - Hong Kong 1.449
IT - Italia 1.324
BR - Brasile 1.290
VN - Vietnam 1.039
UA - Ucraina 840
GB - Regno Unito 823
DE - Germania 771
KR - Corea 403
IN - India 268
FR - Francia 264
FI - Finlandia 255
JP - Giappone 226
SE - Svezia 188
TR - Turchia 170
BD - Bangladesh 167
GR - Grecia 167
AR - Argentina 112
CA - Canada 105
NL - Olanda 73
AT - Austria 68
MX - Messico 56
IQ - Iraq 50
ES - Italia 49
ID - Indonesia 49
EC - Ecuador 48
BE - Belgio 46
PK - Pakistan 35
ZA - Sudafrica 34
PL - Polonia 33
CO - Colombia 32
SA - Arabia Saudita 22
PY - Paraguay 20
VE - Venezuela 19
CZ - Repubblica Ceca 16
JO - Giordania 16
MA - Marocco 16
AU - Australia 15
PE - Perù 14
AE - Emirati Arabi Uniti 13
JM - Giamaica 13
UY - Uruguay 13
EU - Europa 12
KE - Kenya 12
TN - Tunisia 12
UZ - Uzbekistan 12
CL - Cile 11
KZ - Kazakistan 11
PH - Filippine 11
PT - Portogallo 11
EG - Egitto 10
HN - Honduras 10
LT - Lituania 10
OM - Oman 10
CH - Svizzera 9
DO - Repubblica Dominicana 9
DZ - Algeria 9
RO - Romania 9
TH - Thailandia 9
LB - Libano 8
AZ - Azerbaigian 7
DK - Danimarca 7
IL - Israele 6
IR - Iran 6
NP - Nepal 6
BO - Bolivia 5
CI - Costa d'Avorio 5
CR - Costa Rica 5
PS - Palestinian Territory 5
AL - Albania 4
BH - Bahrain 4
GT - Guatemala 4
MY - Malesia 4
PA - Panama 4
PR - Porto Rico 4
QA - Qatar 4
SN - Senegal 4
TW - Taiwan 4
YE - Yemen 4
AM - Armenia 3
BA - Bosnia-Erzegovina 3
BN - Brunei Darussalam 3
HU - Ungheria 3
LV - Lettonia 3
SK - Slovacchia (Repubblica Slovacca) 3
XK - ???statistics.table.value.countryCode.XK??? 3
BB - Barbados 2
BG - Bulgaria 2
EE - Estonia 2
ET - Etiopia 2
GY - Guiana 2
KI - Kiribati 2
KW - Kuwait 2
LK - Sri Lanka 2
NI - Nicaragua 2
NO - Norvegia 2
Totale 42.288
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Città #
Moscow 4.802
Dublin 2.184
Hong Kong 1.431
Singapore 1.356
Jacksonville 1.300
Santa Clara 1.280
Chandler 1.016
San Jose 941
Ashburn 581
Seoul 391
Ho Chi Minh City 359
Hefei 330
Princeton 289
Bremen 243
Medford 239
Hanoi 232
Beijing 218
Boardman 209
Ann Arbor 191
New York 186
Roxbury 184
Bengaluru 180
Caserta 157
Naples 135
Los Angeles 130
Woodbridge 127
Wilmington 126
Dallas 116
San Mateo 111
Cambridge 104
The Dalles 99
São Paulo 92
Aversa 81
Munich 74
Des Moines 62
Council Bluffs 61
Da Nang 59
Rome 56
Milan 53
Jinan 52
Nanjing 51
Nuremberg 50
Rio de Janeiro 49
Atlanta 45
Helsinki 43
Amsterdam 42
Düsseldorf 42
Brussels 41
Frankfurt am Main 41
Haiphong 41
Chicago 38
Mountain View 37
Tianjin 37
Dong Ket 36
Vienna 36
Guangzhou 35
Hangzhou 33
Tokyo 31
Auburn Hills 29
Brooklyn 29
Orem 29
London 28
Shenyang 27
Napoli 26
Phoenix 26
Belo Horizonte 25
Boston 25
Hebei 25
Houston 25
Memphis 25
Falkenstein 24
Norwalk 24
Redwood City 24
San Francisco 24
Toronto 24
Venice 24
Curitiba 23
Shanghai 22
Warsaw 22
Brasília 21
Chennai 20
Ningbo 20
Montreal 19
Nanchang 19
Buffalo 18
Jakarta 18
Changsha 17
Porto Alegre 17
Baghdad 16
Ercolano 16
Hải Dương 16
Lappeenranta 16
Manchester 16
Mexico City 16
Seattle 16
Zhengzhou 16
Dhaka 15
Haikou 15
Miami 15
Quito 15
Totale 21.452
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Nome #
Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review 386
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis 254
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 244
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review 237
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 227
A novel p53 mutant in human breast cancer revealed by multiple SSCP analysis 204
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 197
An aprotinin binding site localized in the hormone binding domain of the estrogen receptor from calf uterus 194
Characterization and epitope mapping of a new panel of monoclonal antibodies to estradiol receptor 194
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 186
Estradiol receptor has proteolytic activity that is responsible for its own transformation 182
Estradiol induces functional inactivation of p53 by intracellular redistribution 180
Aprotinin inhibits the hormone binding of the estrogen receptor from calf uterus 180
miRetina database 179
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 178
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study 177
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 177
Patologia Generale 177
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 177
Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature 175
Genome-Based Advances in Modelling Renal Ciliopathies and Enhancing Patient Care 174
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. 173
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 172
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 170
Purified estrogen receptor enhances in vitro transcription 168
Studio dell’interazione tra il recettore dell’estradiolo e proteine di estratti nucleari da HeLa ed MCF-7 167
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. 167
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes 165
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene 165
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 164
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells. 163
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 163
Identification and characterization of a novel member of the dystrobrevin gene family 161
In vitro binding of the purified hormone-binding subunit of the estrogen receptor to oligonucleotides containing natural or modified sequences of an estrogen-responsive element 160
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 160
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report 159
DNA strend breaks induce the formation of p53 protein stable complexes with p53 target site and modifyits protease sensitivity 159
Novel small mutations along the DMD/BMD gene associated with different phenotypes 157
La capacità dell’ antioncogene p53 di legare specifiche sequenze di DNA è modulata in vitro dalla presenza di oligonucleotidi 157
Looking beyond Entecavir to discover Gitelman Syndrome in a 50 year-old man 157
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 157
Genetic association of ARHGAP21 gene variant with mandibular prognathism 156
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 154
In vitro binding of the purified hormone-binding subunit of the estrogen receptor to the estrogen responsive element of the vitellogenin gene 152
The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function 151
Candidate-gene testing for orphan limb-girdle muscular dystrophies 150
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells 150
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 150
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 150
Short 5’protuding oligonucleotides enhance binding of p53 to specific DNA sequences 150
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy 150
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 150
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements 150
Identification of the Syrian hamster cardiomyopathy gene 149
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes 148
Double carrier status in CANP3 and beta-sarcoglycan genes results in a mild disease phenotype 148
Gene redundancies in the dystrophin-associated protein complex 147
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 147
A new family with transportinopathy: increased clinical heterogeneity 147
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 147
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 147
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy 146
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 146
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations 146
Novel mutations in LMNA A/C gene and associated phenotypes 146
Aspetti clinici, genetici ed epidemiologici delleDistrofie muscolari dei Cingoli nel Sud Italia 146
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 146
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect 145
Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies 145
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell 145
A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein 145
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 145
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 145
BROX haploinsufficiency in familial nonmedullary thyroid cancer 145
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein 144
Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein) 144
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients 144
L’acido all-trans retinoico e l’antiestrogeno ICI 182,780 promuovono apoptosi in cellule epiteliali estrogeno dipendenti (MCF-7) influenzando i livelli di Bcl-2 e p. 53 143
Analysis of caveolin-3 (CAV-3) gene in patients with limb-girdle muscular dystrophies and/or isolated hyperCKemia 143
Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications 142
P.P.6 02 Cardiac and respiratory involvement in autosomal recessive limb-girdle muscular dystrophies 142
Proteolytic activity of the purified hormone-binding subunit of the estrogen receptor 141
Metal binding sites of the estradiol receptor from calf uterus and their possible role in the regulation of receptor function 141
An interconnected data infrastructure to support large-scale rare disease research 140
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies 140
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy 140
A novel homozygous beta-sarcoglycan gene mutation: case description. 140
Short 5’protuding oligonucleotides enhance binding of p53 to specific DNA sequences 140
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 140
Genetic association of ARHGAP21 gene variant with mandibular prognathism 139
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F 139
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 138
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. 138
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 138
Transcriptional control by nuclear receptor 138
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 137
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function 136
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy 136
A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy 136
Multiple heterozygosity for different muscle genes is not rare among individuals with pauci-symptomatic hyperCKemia 136
Totale 16.062
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Categoria #
all - tutte 150.111
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 150.111
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.811 0 8 23 46 566 27 44 107 77 204 153 556
2022/20234.055 354 122 50 323 496 311 26 183 1.995 33 79 83
2023/20241.788 124 80 88 150 568 154 64 73 7 34 141 305
2024/20255.609 35 40 52 113 1.021 617 1.029 480 670 733 444 375
2025/202623.322 927 1.313 1.166 1.100 1.945 12.646 1.227 804 839 504 383 468
2026/20271.022 548 474 0 0 0 0 0 0 0 0 0 0
Totale 43.027