IRIS
NIGRO, Vincenzo
 Distribuzione geografica
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Continente #
EU - Europa 21.543
NA - Nord America 13.518
AS - Asia 9.251
SA - Sud America 1.582
Continente sconosciuto - Info sul continente non disponibili 733
AF - Africa 116
OC - Oceania 20
Totale 46.763
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Nazione #
RU - Federazione Russa 13.604
US - Stati Uniti d'America 13.220
SG - Singapore 3.192
IE - Irlanda 2.196
CN - Cina 1.991
IT - Italia 1.981
HK - Hong Kong 1.457
BR - Brasile 1.296
VN - Vietnam 1.039
GB - Regno Unito 865
UA - Ucraina 840
DE - Germania 778
KR - Corea 405
IN - India 279
FR - Francia 270
FI - Finlandia 255
JP - Giappone 229
SE - Svezia 188
BD - Bangladesh 172
TR - Turchia 171
GR - Grecia 167
CA - Canada 151
AR - Argentina 113
NL - Olanda 73
AT - Austria 68
MX - Messico 57
EC - Ecuador 52
ES - Italia 50
ID - Indonesia 50
IQ - Iraq 50
BE - Belgio 46
PK - Pakistan 35
CO - Colombia 34
ZA - Sudafrica 34
PL - Polonia 33
LT - Lituania 25
SA - Arabia Saudita 22
JM - Giamaica 20
PY - Paraguay 20
VE - Venezuela 20
CZ - Repubblica Ceca 16
JO - Giordania 16
MA - Marocco 16
AU - Australia 15
HN - Honduras 14
PE - Perù 14
RO - Romania 14
AE - Emirati Arabi Uniti 13
UY - Uruguay 13
CL - Cile 12
EE - Estonia 12
EU - Europa 12
KE - Kenya 12
PH - Filippine 12
TN - Tunisia 12
UZ - Uzbekistan 12
CH - Svizzera 11
KZ - Kazakistan 11
PT - Portogallo 11
CR - Costa Rica 10
EG - Egitto 10
OM - Oman 10
DK - Danimarca 9
DO - Repubblica Dominicana 9
DZ - Algeria 9
TH - Thailandia 9
LB - Libano 8
AZ - Azerbaigian 7
GT - Guatemala 7
IL - Israele 7
BB - Barbados 6
IR - Iran 6
NP - Nepal 6
BO - Bolivia 5
CI - Costa d'Avorio 5
MY - Malesia 5
PS - Palestinian Territory 5
AL - Albania 4
BA - Bosnia-Erzegovina 4
BH - Bahrain 4
HU - Ungheria 4
NI - Nicaragua 4
PA - Panama 4
PR - Porto Rico 4
QA - Qatar 4
SC - Seychelles 4
SN - Senegal 4
TT - Trinidad e Tobago 4
TW - Taiwan 4
YE - Yemen 4
AM - Armenia 3
BN - Brunei Darussalam 3
LV - Lettonia 3
SK - Slovacchia (Repubblica Slovacca) 3
SV - El Salvador 3
XK - ???statistics.table.value.countryCode.XK??? 3
BG - Bulgaria 2
BS - Bahamas 2
ET - Etiopia 2
GY - Guiana 2
Totale 46.007
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Città #
Moscow 4.802
Dublin 2.184
Hong Kong 1.437
Singapore 1.364
Santa Clara 1.331
San Jose 1.314
Jacksonville 1.303
Ashburn 1.114
Chandler 1.017
Council Bluffs 833
Seoul 393
Ho Chi Minh City 359
Hefei 330
Princeton 289
Milan 273
Bremen 243
Medford 239
Hanoi 232
Beijing 222
Boardman 209
New York 199
Ann Arbor 191
Roxbury 184
Bengaluru 180
Caserta 157
Naples 154
Los Angeles 149
Dallas 128
Wilmington 128
Woodbridge 127
San Mateo 111
Cambridge 104
The Dalles 101
São Paulo 92
Rome 90
Aversa 81
Miano 78
Munich 74
Des Moines 62
Atlanta 61
Da Nang 59
Jinan 52
Chicago 51
Nanjing 51
Nuremberg 50
Rio de Janeiro 49
Frankfurt am Main 47
Helsinki 43
Amsterdam 42
Düsseldorf 42
Brussels 41
Haiphong 41
Brooklyn 37
Mountain View 37
Tianjin 37
Dong Ket 36
Phoenix 36
Vienna 36
Guangzhou 35
Tokyo 34
Hangzhou 33
London 30
Auburn Hills 29
Houston 29
Orem 29
Toronto 29
Montreal 28
San Francisco 28
Boston 27
Shenyang 27
Memphis 26
Napoli 26
Venice 26
Belo Horizonte 25
Hebei 25
Falkenstein 24
Norwalk 24
Redwood City 24
Brasília 23
Curitiba 23
Shanghai 22
Warsaw 22
Denver 21
Florence 21
Seattle 21
Chennai 20
Ningbo 20
Miami 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
Quito 16
Totale 23.697
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Nome #
Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review 407
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis 263
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 253
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 251
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 246
A novel p53 mutant in human breast cancer revealed by multiple SSCP analysis 213
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 206
An aprotinin binding site localized in the hormone binding domain of the estrogen receptor from calf uterus 203
Characterization and epitope mapping of a new panel of monoclonal antibodies to estradiol receptor 203
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 195
Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature 195
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 190
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 189
miRetina database 188
Estradiol induces functional inactivation of p53 by intracellular redistribution 187
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study 187
Aprotinin inhibits the hormone binding of the estrogen receptor from calf uterus 187
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 187
Estradiol receptor has proteolytic activity that is responsible for its own transformation 186
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. 185
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes 185
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 183
Patologia Generale 183
Genome-Based Advances in Modelling Renal Ciliopathies and Enhancing Patient Care 182
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 182
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. 178
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 175
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells. 174
Purified estrogen receptor enhances in vitro transcription 174
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene 172
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 172
Identification and characterization of a novel member of the dystrobrevin gene family 171
Identification of the Syrian hamster cardiomyopathy gene 171
Studio dell’interazione tra il recettore dell’estradiolo e proteine di estratti nucleari da HeLa ed MCF-7 171
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 171
Novel small mutations along the DMD/BMD gene associated with different phenotypes 169
Looking beyond Entecavir to discover Gitelman Syndrome in a 50 year-old man 169
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 168
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report 167
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 166
Genetic association of ARHGAP21 gene variant with mandibular prognathism 164
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 164
DNA strend breaks induce the formation of p53 protein stable complexes with p53 target site and modifyits protease sensitivity 162
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy 161
La capacità dell’ antioncogene p53 di legare specifiche sequenze di DNA è modulata in vitro dalla presenza di oligonucleotidi 160
Candidate-gene testing for orphan limb-girdle muscular dystrophies 159
In vitro binding of the purified hormone-binding subunit of the estrogen receptor to the estrogen responsive element of the vitellogenin gene 159
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 159
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements 159
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 159
The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function 158
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells 158
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 158
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 157
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 157
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 156
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 156
BROX haploinsufficiency in familial nonmedullary thyroid cancer 156
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients 156
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy 155
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect 155
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes 155
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations 155
Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein) 155
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 155
An interconnected data infrastructure to support large-scale rare disease research 154
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell 154
Short 5’protuding oligonucleotides enhance binding of p53 to specific DNA sequences 154
Novel mutations in LMNA A/C gene and associated phenotypes 154
Double carrier status in CANP3 and beta-sarcoglycan genes results in a mild disease phenotype 154
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 154
Gene redundancies in the dystrophin-associated protein complex 153
Aspetti clinici, genetici ed epidemiologici delleDistrofie muscolari dei Cingoli nel Sud Italia 153
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 153
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 153
Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies 152
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein 152
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy 152
Proteolytic activity of the purified hormone-binding subunit of the estrogen receptor 152
A new family with transportinopathy: increased clinical heterogeneity 152
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 151
Genetic association of ARHGAP21 gene variant with mandibular prognathism 151
P.P.6 02 Cardiac and respiratory involvement in autosomal recessive limb-girdle muscular dystrophies 151
A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein 150
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 149
Analysis of caveolin-3 (CAV-3) gene in patients with limb-girdle muscular dystrophies and/or isolated hyperCKemia 149
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 149
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology 148
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 148
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. 148
Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications 148
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. 53 148
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 148
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome 147
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function 147
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F 147
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy 146
A novel homozygous beta-sarcoglycan gene mutation: case description. 146
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 146
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy 145
Totale 17.010
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Categoria #
all - tutte 160.701
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 160.701
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.780 0 0 0 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
2026/20274.758 548 752 1.871 1.587 0 0 0 0 0 0 0 0
Totale 46.763