IRIS
NIGRO, Vincenzo
 Distribuzione geografica
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Continente #
NA - Nord America 6.708
EU - Europa 6.221
AS - Asia 1.298
SA - Sud America 23
OC - Oceania 14
Continente sconosciuto - Info sul continente non disponibili 13
AF - Africa 4
Totale 14.281
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Nazione #
US - Stati Uniti d'America 6.681
IE - Irlanda 2.190
IT - Italia 984
UA - Ucraina 815
GB - Regno Unito 712
DE - Germania 613
CN - Cina 505
SG - Singapore 485
FI - Finlandia 240
FR - Francia 179
SE - Svezia 179
GR - Grecia 167
TR - Turchia 141
BE - Belgio 44
VN - Vietnam 38
KR - Corea 36
ES - Italia 25
CA - Canada 24
HK - Hong Kong 23
NL - Olanda 21
IN - India 18
PK - Pakistan 17
BR - Brasile 14
CZ - Repubblica Ceca 14
AU - Australia 13
EU - Europa 12
JP - Giappone 8
IR - Iran 6
CO - Colombia 5
DK - Danimarca 5
LT - Lituania 5
PL - Polonia 5
AT - Austria 4
PT - Portogallo 4
RO - Romania 4
AE - Emirati Arabi Uniti 3
AR - Argentina 3
ID - Indonesia 3
BH - Bahrain 2
CH - Svizzera 2
IL - Israele 2
MX - Messico 2
RS - Serbia 2
RU - Federazione Russa 2
SA - Arabia Saudita 2
TH - Thailandia 2
TW - Taiwan 2
A1 - Anonimo 1
AL - Albania 1
BJ - Benin 1
BN - Brunei Darussalam 1
CL - Cile 1
EE - Estonia 1
EG - Egitto 1
HU - Ungheria 1
IM - Isola di Man 1
KZ - Kazakistan 1
LB - Libano 1
MA - Marocco 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PA - Panama 1
PH - Filippine 1
QA - Qatar 1
ZA - Sudafrica 1
Totale 14.281
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Città #
Dublin 2.179
Jacksonville 1.293
Santa Clara 1.179
Chandler 1.016
Singapore 313
Princeton 289
Bremen 243
Medford 239
Boardman 209
Ann Arbor 191
Roxbury 184
Caserta 157
Woodbridge 127
Wilmington 126
San Mateo 111
New York 105
Cambridge 104
Naples 92
Beijing 90
Ashburn 66
Aversa 60
Des Moines 60
Nanjing 48
Jinan 47
Düsseldorf 41
Munich 40
Brussels 39
Dong Ket 36
Mountain View 36
Helsinki 34
Auburn Hills 29
Seoul 27
Napoli 26
Rome 26
Shenyang 26
Hebei 25
Norwalk 24
Redwood City 24
Hong Kong 23
Hangzhou 22
Venice 22
Los Angeles 21
Milan 20
Ningbo 20
Tianjin 19
Nanchang 18
Lappeenranta 16
Guangzhou 15
Haikou 15
Houston 15
Lanzhou 13
Santiago de Compostela 13
Shanghai 12
Taizhou 12
Kunming 11
Laives 11
London 11
Taiyuan 11
Zhengzhou 11
Brno 10
Chicago 10
Ercolano 10
Falls Church 10
Catania 9
Changsha 9
Melbourne 9
Toronto 8
Amsterdam 7
Castelfranco Emilia 7
Groningen 7
Istanbul 7
Pune 7
Seattle 7
Ariano Irpino 6
Casoria 6
Fairfield 6
Hanover 6
Ottawa 6
Avellino 5
Florence 5
Frankfurt am Main 5
Jiaxing 5
Rockville 5
San Nicola la Strada 5
Afragola 4
Andover 4
Cagliari 4
Città di Castello 4
Gunzenhausen 4
Lubbock 4
Madrid 4
Mcallen 4
Menlo Park 4
New Haven 4
Nürnberg 4
Redmond 4
Salerno 4
Trieste 4
Washington 4
Wuhan 4
Totale 9.533
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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 135
Patologia Generale 96
Genetic association of ARHGAP21 gene variant with mandibular prognathism 95
An aprotinin binding site localized in the hormone binding domain of the estrogen receptor from calf uterus 91
A novel p53 mutant in human breast cancer revealed by multiple SSCP analysis 90
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. 89
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes 88
Studio dell’interazione tra il recettore dell’estradiolo e proteine di estratti nucleari da HeLa ed MCF-7 87
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 85
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 84
Novel small mutations along the DMD/BMD gene associated with different phenotypes 83
Characterization and epitope mapping of a new panel of monoclonal antibodies to estradiol receptor 81
Estradiol receptor has proteolytic activity that is responsible for its own transformation 80
Aprotinin inhibits the hormone binding of the estrogen receptor from calf uterus 80
Estradiol induces functional inactivation of p53 by intracellular redistribution 78
Identification and characterization of a novel member of the dystrobrevin gene family 78
La capacità dell’ antioncogene p53 di legare specifiche sequenze di DNA è modulata in vitro dalla presenza di oligonucleotidi 78
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 77
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 77
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study 76
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy 76
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy 76
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 75
Novel mutations in LMNA A/C gene and associated phenotypes 75
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 75
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. 74
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 74
Proteolytic activity of the purified hormone-binding subunit of the estrogen receptor 73
Genetic association of ARHGAP21 gene variant with mandibular prognathism 71
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy 71
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene 71
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. 70
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 70
Enhancer chip: detecting human copy number variations in regulatory elements. 70
Purified estrogen receptor enhances in vitro transcription 69
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 69
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function 68
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 68
In vitro binding of the purified hormone-binding subunit of the estrogen receptor to the estrogen responsive element of the vitellogenin gene 68
Multiple heterozygosity for different muscle genes is not rare among individuals with pauci-symptomatic hyperCKemia 68
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. 67
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein 67
The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function 67
Candidate-gene testing for orphan limb-girdle muscular dystrophies 66
Identification of the Syrian hamster cardiomyopathy gene 66
Short 5’protuding oligonucleotides enhance binding of p53 to specific DNA sequences 66
Le Distrofie dei Cingoli autosomiche recessive: calpainopatie e disferlinopatie 65
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies 65
Beta-sarcoglycan gene mutations in Turkey 65
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 65
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 65
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 65
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 64
Familial dilated cardiomyopathy associated with the typical dystrophin BMD mutation. Report on two additional cases 64
Prostaglandin E2 induction of binding activity to CRE and AP-2 elements in human T lymphocytes 63
The fourth component of the sarcoglycan complex 63
Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications 63
Transcriptional control by nuclear receptor 63
DNA strend breaks induce the formation of p53 protein stable complexes with p53 target site and modifyits protease sensitivity 63
Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review 63
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 63
Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments 62
Short 5’protuding oligonucleotides enhance binding of p53 to specific DNA sequences 62
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell 61
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample 61
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 61
Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. 61
Metal binding sites of the estradiol receptor from calf uterus and their possible role in the regulation of receptor function 61
Functional Antagonism between OTX2 and NANOG Specifies a Spectrum of Heterogeneous Identities in Embryonic Stem Cells 61
Evaluation of the cardiomyopathy in Becker muscular dystrophy 60
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 60
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples 59
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F 59
Particulate nature of the unoccupied uterine estrogen receptor 59
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 59
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 59
Molecular and Muscle Pathology in a series of Caveolinopathy patients 58
Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein) 58
Analysis of 22 deletion breakpoints in dystrophin intron 49 58
Double carrier status in CANP3 and beta-sarcoglycan genes results in a mild disease phenotype 58
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 58
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 58
Reply to 58
Successful combined prenatal diagnosis for Duchenne and facio-scapulo- humeral dystrophies 57
Interaction between estrogen receptor and subcellular structures of target cells: nuclear localization of unoccupied receptor and its modification induced by estradiol 57
A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo 57
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases 57
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells 56
Detection of a nonsense mutation in the dystrophin gene by multiple SSCP 56
Gene redundancies in the dystrophin-associated protein complex 56
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 56
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements 56
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies 55
Clinical and genetic findings in sarcoglycanopathies 55
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 55
Genetic basis of limb-girdle muscular dystrophies: the 2014 update 55
Analysis of caveolin-3 (CAV-3) gene in patients with limb-girdle muscular dystrophies and/or isolated hyperCKemia 55
Heart involvement in Emery-Dreifuss muscular dystrophies: new parameters to detect early atrial fibrosis and vulnerability 55
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 55
A novel homozygous beta-sarcoglycan gene mutation: case description. 54
Totale 6.775
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Categoria #
all - tutte 70.886
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 70.886
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020602 0 0 0 0 0 38 274 44 95 46 67 38
2020/20212.022 174 20 224 158 410 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
2024/20251.863 35 40 52 113 1.021 602 0 0 0 0 0 0
Totale 14.937