IRIS
NIGRO, Vincenzo
 Distribuzione geografica
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Continente #
EU - Europa 12.114
NA - Nord America 7.717
AS - Asia 7.522
SA - Sud America 1.491
AF - Africa 99
OC - Oceania 19
Continente sconosciuto - Info sul continente non disponibili 16
Totale 28.978
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Nazione #
US - Stati Uniti d'America 7.602
RU - Federazione Russa 5.289
SG - Singapore 2.661
IE - Irlanda 2.193
CN - Cina 1.742
HK - Hong Kong 1.356
BR - Brasile 1.250
IT - Italia 1.144
UA - Ucraina 836
GB - Regno Unito 773
DE - Germania 742
VN - Vietnam 444
KR - Corea 397
FI - Finlandia 251
FR - Francia 241
IN - India 241
JP - Giappone 208
SE - Svezia 185
GR - Grecia 167
TR - Turchia 161
AR - Argentina 102
BD - Bangladesh 63
AT - Austria 62
CA - Canada 55
BE - Belgio 45
EC - Ecuador 45
IQ - Iraq 44
ES - Italia 43
ID - Indonesia 41
NL - Olanda 41
MX - Messico 35
PK - Pakistan 32
ZA - Sudafrica 31
PL - Polonia 28
CO - Colombia 25
PY - Paraguay 19
MA - Marocco 16
SA - Arabia Saudita 16
CZ - Repubblica Ceca 15
AU - Australia 14
EU - Europa 12
PE - Perù 12
UY - Uruguay 12
UZ - Uzbekistan 12
VE - Venezuela 12
AE - Emirati Arabi Uniti 11
JO - Giordania 11
KE - Kenya 11
KZ - Kazakistan 10
LT - Lituania 10
EG - Egitto 9
OM - Oman 9
TN - Tunisia 9
LB - Libano 8
PT - Portogallo 8
CL - Cile 7
DO - Repubblica Dominicana 7
RO - Romania 7
AZ - Azerbaigian 6
DK - Danimarca 6
DZ - Algeria 6
HN - Honduras 6
IL - Israele 6
IR - Iran 6
PS - Palestinian Territory 5
BO - Bolivia 4
CI - Costa d'Avorio 4
JM - Giamaica 4
NP - Nepal 4
SN - Senegal 4
TH - Thailandia 4
AL - Albania 3
AM - Armenia 3
BA - Bosnia-Erzegovina 3
BH - Bahrain 3
BN - Brunei Darussalam 3
HU - Ungheria 3
PA - Panama 3
QA - Qatar 3
SK - Slovacchia (Repubblica Slovacca) 3
TW - Taiwan 3
XK - ???statistics.table.value.countryCode.XK??? 3
CH - Svizzera 2
EE - Estonia 2
ET - Etiopia 2
GY - Guiana 2
KI - Kiribati 2
KW - Kuwait 2
LV - Lettonia 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
PH - Filippine 2
RS - Serbia 2
A1 - Anonimo 1
BF - Burkina Faso 1
BG - Bulgaria 1
BJ - Benin 1
BS - Bahamas 1
BY - Bielorussia 1
CG - Congo 1
Totale 28.959
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Città #
Dublin 2.182
Moscow 1.691
Hong Kong 1.354
Jacksonville 1.293
Santa Clara 1.199
Singapore 1.051
Chandler 1.016
Seoul 387
Hefei 330
Princeton 289
Bremen 243
Medford 239
Ashburn 222
Boardman 209
Ann Arbor 191
Roxbury 184
Bengaluru 180
Beijing 171
Ho Chi Minh City 166
Caserta 157
New York 137
Woodbridge 127
Wilmington 126
Naples 113
San Mateo 111
Cambridge 104
The Dalles 97
Dallas 93
São Paulo 86
Hanoi 82
Aversa 76
Munich 74
Los Angeles 62
Des Moines 60
Jinan 52
Nanjing 51
Nuremberg 49
Rio de Janeiro 49
Düsseldorf 42
Brussels 40
Helsinki 40
Tianjin 37
Dong Ket 36
Mountain View 36
Rome 36
Guangzhou 34
Hangzhou 33
Milan 33
Vienna 30
Auburn Hills 29
Shenyang 27
Napoli 26
Hebei 25
Belo Horizonte 24
Boston 24
London 24
Norwalk 24
Redwood City 24
Chicago 22
Curitiba 22
Falkenstein 22
Venice 22
Brooklyn 21
Haiphong 21
Brasília 20
Frankfurt am Main 20
Ningbo 20
Nanchang 19
Amsterdam 18
Tokyo 18
Warsaw 18
Changsha 17
Porto Alegre 17
Baghdad 16
Ercolano 16
Houston 16
Jakarta 16
Lappeenranta 16
Zhengzhou 16
Haikou 15
San Francisco 15
Shanghai 15
Dhaka 14
Guarulhos 14
Quito 14
Salvador 14
Campinas 13
Guayaquil 13
Lanzhou 13
Santiago de Compostela 13
Taiyuan 13
Taizhou 13
Toronto 13
Atlanta 12
Chennai 12
Da Nang 12
Amman 11
Fortaleza 11
Goiânia 11
Juiz de Fora 11
Totale 15.592
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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 188
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 165
A novel p53 mutant in human breast cancer revealed by multiple SSCP analysis 154
An aprotinin binding site localized in the hormone binding domain of the estrogen receptor from calf uterus 146
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 144
Characterization and epitope mapping of a new panel of monoclonal antibodies to estradiol receptor 139
Patologia Generale 138
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 135
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. 135
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study 133
Aprotinin inhibits the hormone binding of the estrogen receptor from calf uterus 132
Studio dell’interazione tra il recettore dell’estradiolo e proteine di estratti nucleari da HeLa ed MCF-7 132
miRetina database 132
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 131
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 130
Estradiol receptor has proteolytic activity that is responsible for its own transformation 130
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 129
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. 128
Estradiol induces functional inactivation of p53 by intracellular redistribution 128
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes 127
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 126
Purified estrogen receptor enhances in vitro transcription 122
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 122
Identification and characterization of a novel member of the dystrobrevin gene family 120
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene 120
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 120
La capacità dell’ antioncogene p53 di legare specifiche sequenze di DNA è modulata in vitro dalla presenza di oligonucleotidi 120
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 119
Genetic association of ARHGAP21 gene variant with mandibular prognathism 117
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 117
Novel small mutations along the DMD/BMD gene associated with different phenotypes 116
Novel mutations in LMNA A/C gene and associated phenotypes 116
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy 115
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. 53 114
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 113
Short 5’protuding oligonucleotides enhance binding of p53 to specific DNA sequences 113
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 112
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report 112
In vitro binding of the purified hormone-binding subunit of the estrogen receptor to the estrogen responsive element of the vitellogenin gene 112
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 112
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 111
Proteolytic activity of the purified hormone-binding subunit of the estrogen receptor 111
Candidate-gene testing for orphan limb-girdle muscular dystrophies 110
A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein 110
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 110
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein 109
A new family with transportinopathy: increased clinical heterogeneity 109
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements 109
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 109
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells. 108
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function 108
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells 108
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy 108
DNA strend breaks induce the formation of p53 protein stable complexes with p53 target site and modifyits protease sensitivity 108
Double carrier status in CANP3 and beta-sarcoglycan genes results in a mild disease phenotype 108
Looking beyond Entecavir to discover Gitelman Syndrome in a 50 year-old man 108
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 108
Identification of the Syrian hamster cardiomyopathy gene 107
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 107
Genetic association of ARHGAP21 gene variant with mandibular prognathism 106
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. 106
Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications 106
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 106
The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function 105
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 105
BROX haploinsufficiency in familial nonmedullary thyroid cancer 105
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F 104
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell 103
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. 102
Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein) 102
A novel homozygous beta-sarcoglycan gene mutation: case description. 102
Aspetti clinici, genetici ed epidemiologici delleDistrofie muscolari dei Cingoli nel Sud Italia 102
Multiple heterozygosity for different muscle genes is not rare among individuals with pauci-symptomatic hyperCKemia 102
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 102
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy 101
Gene redundancies in the dystrophin-associated protein complex 101
Transcriptional control by nuclear receptor 101
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 101
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 100
A Rare Case of Severe Congenital RYR1-Associated Myopathy 100
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 99
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies 99
Metal binding sites of the estradiol receptor from calf uterus and their possible role in the regulation of receptor function 99
Short 5’protuding oligonucleotides enhance binding of p53 to specific DNA sequences 99
Analysis of caveolin-3 (CAV-3) gene in patients with limb-girdle muscular dystrophies and/or isolated hyperCKemia 99
Enhancer chip: detecting human copy number variations in regulatory elements. 99
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature 99
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report 98
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 98
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy 97
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 97
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations 97
Particulate nature of the unoccupied uterine estrogen receptor 97
De novo variants in ATP2B1 lead to neurodevelopmental delay 97
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample 96
Familial dilated cardiomyopathy associated with the typical dystrophin BMD mutation. Report on two additional cases 96
A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy 96
P.P.6 02 Cardiac and respiratory involvement in autosomal recessive limb-girdle muscular dystrophies 96
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes 95
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 95
Totale 11.290
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Categoria #
all - tutte 116.066
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 116.066
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.036 0 0 0 0 0 19 264 206 24 230 211 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
2025/202610.976 927 1.313 1.166 1.100 1.945 4.525 0 0 0 0 0 0
Totale 29.659