IRIS
NIGRO, Vincenzo
 Distribuzione geografica
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Continente #
EU - Europa 20.628
NA - Nord America 9.126
AS - Asia 8.812
SA - Sud America 1.556
AF - Africa 112
OC - Oceania 20
Continente sconosciuto - Info sul continente non disponibili 16
Totale 40.270
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Nazione #
RU - Federazione Russa 13.604
US - Stati Uniti d'America 8.975
SG - Singapore 3.002
IE - Irlanda 2.196
CN - Cina 1.924
HK - Hong Kong 1.420
BR - Brasile 1.288
IT - Italia 1.214
VN - Vietnam 1.039
UA - Ucraina 839
GB - Regno Unito 800
DE - Germania 766
KR - Corea 399
IN - India 267
FR - Francia 259
FI - Finlandia 254
JP - Giappone 219
SE - Svezia 186
TR - Turchia 170
GR - Grecia 167
AR - Argentina 111
BD - Bangladesh 70
AT - Austria 68
CA - Canada 67
NL - Olanda 66
MX - Messico 53
IQ - Iraq 50
ES - Italia 49
EC - Ecuador 47
ID - Indonesia 47
BE - Belgio 46
PK - Pakistan 35
ZA - Sudafrica 34
PL - Polonia 33
CO - Colombia 29
SA - Arabia Saudita 22
PY - Paraguay 20
VE - Venezuela 18
JO - Giordania 16
MA - Marocco 16
AU - Australia 15
CZ - Repubblica Ceca 15
AE - Emirati Arabi Uniti 13
PE - Perù 13
UY - Uruguay 13
EU - Europa 12
KE - Kenya 12
TN - Tunisia 12
UZ - Uzbekistan 12
KZ - Kazakistan 11
EG - Egitto 10
LT - Lituania 10
PH - Filippine 10
PT - Portogallo 10
CL - Cile 9
DO - Repubblica Dominicana 9
DZ - Algeria 9
OM - Oman 9
LB - Libano 8
TH - Thailandia 8
AZ - Azerbaigian 7
DK - Danimarca 7
HN - Honduras 7
RO - Romania 7
IL - Israele 6
IR - Iran 6
BO - Bolivia 5
CI - Costa d'Avorio 5
JM - Giamaica 5
NP - Nepal 5
PS - Palestinian Territory 5
AL - Albania 4
BH - Bahrain 4
MY - Malesia 4
PA - Panama 4
QA - Qatar 4
SN - Senegal 4
TW - Taiwan 4
AM - Armenia 3
BA - Bosnia-Erzegovina 3
BN - Brunei Darussalam 3
CH - Svizzera 3
HU - Ungheria 3
LV - Lettonia 3
SK - Slovacchia (Repubblica Slovacca) 3
XK - ???statistics.table.value.countryCode.XK??? 3
BG - Bulgaria 2
EE - Estonia 2
ET - Etiopia 2
GT - Guatemala 2
GY - Guiana 2
KI - Kiribati 2
KW - Kuwait 2
LK - Sri Lanka 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
RS - Serbia 2
A1 - Anonimo 1
BF - Burkina Faso 1
BJ - Benin 1
Totale 40.247
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Città #
Moscow 4.802
Dublin 2.185
Hong Kong 1.404
Singapore 1.325
Jacksonville 1.293
Santa Clara 1.214
Chandler 1.016
San Jose 714
Ashburn 440
Seoul 387
Ho Chi Minh City 359
Hefei 330
Princeton 289
Bremen 243
Medford 239
Hanoi 232
Boardman 209
Ann Arbor 191
Beijing 186
Roxbury 184
Bengaluru 180
Caserta 157
New York 152
Naples 135
Woodbridge 127
Wilmington 126
San Mateo 111
Los Angeles 105
Cambridge 104
The Dalles 97
Dallas 96
São Paulo 92
Aversa 76
Munich 74
Des Moines 62
Da Nang 59
Jinan 52
Nanjing 51
Nuremberg 50
Rio de Janeiro 49
Rome 46
Helsinki 43
Düsseldorf 42
Brussels 41
Haiphong 41
Amsterdam 40
Milan 39
Tianjin 37
Dong Ket 36
Frankfurt am Main 36
Mountain View 36
Vienna 36
Guangzhou 35
Hangzhou 33
Council Bluffs 31
Auburn Hills 29
Atlanta 28
Chicago 28
London 27
Shenyang 27
Napoli 26
Tokyo 26
Belo Horizonte 25
Hebei 25
Boston 24
Falkenstein 24
Norwalk 24
Redwood City 24
Curitiba 23
Orem 23
Venice 22
Warsaw 22
Brasília 21
Brooklyn 21
Chennai 20
Ningbo 20
Nanchang 19
Houston 18
Jakarta 18
Changsha 17
Porto Alegre 17
Baghdad 16
Ercolano 16
Hải Dương 16
Lappeenranta 16
Manchester 16
Montreal 16
Shanghai 16
Zhengzhou 16
Dhaka 15
Haikou 15
San Francisco 15
Amman 14
Guarulhos 14
Mexico City 14
Quito 14
Salvador 14
Campinas 13
Guayaquil 13
Lanzhou 13
Totale 20.649
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Nome #
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 237
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 220
A novel p53 mutant in human breast cancer revealed by multiple SSCP analysis 198
An aprotinin binding site localized in the hormone binding domain of the estrogen receptor from calf uterus 189
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 189
Characterization and epitope mapping of a new panel of monoclonal antibodies to estradiol receptor 185
Aprotinin inhibits the hormone binding of the estrogen receptor from calf uterus 177
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 176
Estradiol receptor has proteolytic activity that is responsible for its own transformation 175
Estradiol induces functional inactivation of p53 by intracellular redistribution 174
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study 174
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 174
miRetina database 173
Patologia Generale 172
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 171
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. 170
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 168
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 166
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 165
Purified estrogen receptor enhances in vitro transcription 165
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. 165
Studio dell’interazione tra il recettore dell’estradiolo e proteine di estratti nucleari da HeLa ed MCF-7 164
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 163
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene 162
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes 161
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells. 159
Identification and characterization of a novel member of the dystrobrevin gene family 159
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 159
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 155
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 154
DNA strend breaks induce the formation of p53 protein stable complexes with p53 target site and modifyits protease sensitivity 153
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report 152
La capacità dell’ antioncogene p53 di legare specifiche sequenze di DNA è modulata in vitro dalla presenza di oligonucleotidi 151
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 151
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 151
Looking beyond Entecavir to discover Gitelman Syndrome in a 50 year-old man 150
Novel small mutations along the DMD/BMD gene associated with different phenotypes 149
In vitro binding of the purified hormone-binding subunit of the estrogen receptor to the estrogen responsive element of the vitellogenin gene 149
Genetic association of ARHGAP21 gene variant with mandibular prognathism 149
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 148
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells 147
Double carrier status in CANP3 and beta-sarcoglycan genes results in a mild disease phenotype 147
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements 147
Candidate-gene testing for orphan limb-girdle muscular dystrophies 146
The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function 146
Novel mutations in LMNA A/C gene and associated phenotypes 146
A new family with transportinopathy: increased clinical heterogeneity 146
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy 145
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 145
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 144
Short 5’protuding oligonucleotides enhance binding of p53 to specific DNA sequences 144
Aspetti clinici, genetici ed epidemiologici delleDistrofie muscolari dei Cingoli nel Sud Italia 144
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 144
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 144
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect 143
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes 143
Gene redundancies in the dystrophin-associated protein complex 143
A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein 143
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations 142
Identification of the Syrian hamster cardiomyopathy gene 142
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 142
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 142
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy 141
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 141
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 141
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 140
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein 140
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. 53 140
BROX haploinsufficiency in familial nonmedullary thyroid cancer 140
Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies 139
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell 139
Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein) 139
A novel homozygous beta-sarcoglycan gene mutation: case description. 139
Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications 138
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 138
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F 137
Proteolytic activity of the purified hormone-binding subunit of the estrogen receptor 137
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 137
Analysis of caveolin-3 (CAV-3) gene in patients with limb-girdle muscular dystrophies and/or isolated hyperCKemia 137
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 137
An interconnected data infrastructure to support large-scale rare disease research 136
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 136
Genetic association of ARHGAP21 gene variant with mandibular prognathism 136
Transcriptional control by nuclear receptor 136
P.P.6 02 Cardiac and respiratory involvement in autosomal recessive limb-girdle muscular dystrophies 136
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function 135
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy 135
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients 135
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy 134
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. 134
A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy 134
Short 5’protuding oligonucleotides enhance binding of p53 to specific DNA sequences 134
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 134
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies 132
Metal binding sites of the estradiol receptor from calf uterus and their possible role in the regulation of receptor function 132
Multiple heterozygosity for different muscle genes is not rare among individuals with pauci-symptomatic hyperCKemia 132
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1) 132
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 131
Are SHROOM4 loss-of-function variants pathogenic? 130
Familial dilated cardiomyopathy associated with the typical dystrophin BMD mutation. Report on two additional cases 130
Totale 15.071
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Categoria #
all - tutte 133.010
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 133.010
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021523 0 0 0 0 0 0 0 0 0 230 211 82
2021/20221.936 125 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
2025/202622.287 927 1.313 1.166 1.100 1.945 12.646 1.227 819 841 303 0 0
Totale 40.970