IRIS
NIGRO, Vincenzo
 Distribuzione geografica
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Continente #
EU - Europa 6.025
NA - Nord America 5.443
AS - Asia 693
Continente sconosciuto - Info sul continente non disponibili 13
OC - Oceania 13
SA - Sud America 8
AF - Africa 1
Totale 12.196
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Nazione #
US - Stati Uniti d'America 5.426
IE - Irlanda 2.243
UA - Ucraina 816
IT - Italia 792
GB - Regno Unito 711
DE - Germania 576
CN - Cina 442
FI - Finlandia 239
FR - Francia 181
SE - Svezia 179
GR - Grecia 168
TR - Turchia 134
BE - Belgio 42
VN - Vietnam 38
ES - Italia 23
NL - Olanda 21
IN - India 18
CA - Canada 15
AU - Australia 13
PK - Pakistan 13
EU - Europa 12
KR - Corea 9
JP - Giappone 8
CZ - Repubblica Ceca 6
IR - Iran 6
PL - Polonia 5
PT - Portogallo 5
SG - Singapore 5
CO - Colombia 4
HK - Hong Kong 3
ID - Indonesia 3
RO - Romania 3
AE - Emirati Arabi Uniti 2
BR - Brasile 2
CH - Svizzera 2
DK - Danimarca 2
HU - Ungheria 2
IL - Israele 2
RS - Serbia 2
RU - Federazione Russa 2
SA - Arabia Saudita 2
TH - Thailandia 2
TW - Taiwan 2
A1 - Anonimo 1
AL - Albania 1
AR - Argentina 1
AT - Austria 1
BH - Bahrain 1
CL - Cile 1
EG - Egitto 1
IM - Isola di Man 1
KZ - Kazakistan 1
LT - Lituania 1
MX - Messico 1
NO - Norvegia 1
PA - Panama 1
PH - Filippine 1
QA - Qatar 1
Totale 12.196
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Città #
Dublin 2.232
Jacksonville 1.293
Chandler 1.026
Princeton 294
Bremen 248
Medford 239
Ann Arbor 191
Roxbury 189
Caserta 157
Boardman 135
Wilmington 127
Woodbridge 127
New York 111
San Mateo 111
Cambridge 109
Beijing 90
Ashburn 65
Des Moines 61
Naples 55
Jinan 47
Nanjing 47
Düsseldorf 41
Brussels 37
Dong Ket 36
Mountain View 36
Helsinki 32
Auburn Hills 29
Napoli 26
Shenyang 26
Hebei 25
Norwalk 24
Redwood City 24
Venice 22
Hangzhou 21
Milan 20
Ningbo 20
Tianjin 19
Nanchang 18
Rome 18
Lappeenranta 17
Los Angeles 16
Haikou 15
Houston 15
Lanzhou 13
Santiago de Compostela 13
Guangzhou 11
Kunming 11
Taiyuan 11
Taizhou 11
Zhengzhou 11
Ercolano 10
Falls Church 10
Shanghai 10
Changsha 9
Melbourne 9
Amsterdam 8
London 8
Pune 8
Castelfranco Emilia 7
Munich 7
Seattle 7
Ariano Irpino 6
Fairfield 6
Groningen 6
Hanover 6
Avellino 5
Florence 5
Rockville 5
San Nicola la Strada 5
Washington 5
Afragola 4
Andover 4
Brno 4
Catania 4
Gunzenhausen 4
Jiaxing 4
Lubbock 4
Mcallen 4
Menlo Park 4
Nürnberg 4
Ottawa 4
Redmond 4
Salerno 4
Salt Lake City 4
Trieste 4
Wuhan 4
Zanjan 4
Agropoli 3
Arzano 3
Bellmawr 3
Boydton 3
Chicago 3
Dearborn 3
Ferrara 3
Hong Kong 3
Marano Di Napoli 3
Mianwali 3
New Haven 3
Padova 3
Palermo 3
Totale 7.821
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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 128
Patologia Generale 87
Genetic association of ARHGAP21 gene variant with mandibular prognathism 84
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. 84
A novel p53 mutant in human breast cancer revealed by multiple SSCP analysis 80
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes 80
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 79
Studio dell’interazione tra il recettore dell’estradiolo e proteine di estratti nucleari da HeLa ed MCF-7 78
Novel small mutations along the DMD/BMD gene associated with different phenotypes 77
An aprotinin binding site localized in the hormone binding domain of the estrogen receptor from calf uterus 77
Estradiol receptor has proteolytic activity that is responsible for its own transformation 72
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy 71
La capacità dell’ antioncogene p53 di legare specifiche sequenze di DNA è modulata in vitro dalla presenza di oligonucleotidi 71
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study 70
Characterization and epitope mapping of a new panel of monoclonal antibodies to estradiol receptor 70
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 70
Estradiol induces functional inactivation of p53 by intracellular redistribution 69
Identification and characterization of a novel member of the dystrobrevin gene family 69
Aprotinin inhibits the hormone binding of the estrogen receptor from calf uterus 69
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 69
Novel mutations in LMNA A/C gene and associated phenotypes 69
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 68
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 68
Proteolytic activity of the purified hormone-binding subunit of the estrogen receptor 67
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 65
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. 64
The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function 63
Genetic association of ARHGAP21 gene variant with mandibular prognathism 63
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy 63
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 63
In vitro binding of the purified hormone-binding subunit of the estrogen receptor to the estrogen responsive element of the vitellogenin gene 63
Multiple heterozygosity for different muscle genes is not rare among individuals with pauci-symptomatic hyperCKemia 63
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. 62
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. 62
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function 62
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene 62
Enhancer chip: detecting human copy number variations in regulatory elements. 62
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein 61
Short 5’protuding oligonucleotides enhance binding of p53 to specific DNA sequences 61
Purified estrogen receptor enhances in vitro transcription 61
Le Distrofie dei Cingoli autosomiche recessive: calpainopatie e disferlinopatie 60
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 60
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 60
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies 59
Identification of the Syrian hamster cardiomyopathy gene 59
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 59
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 59
Beta-sarcoglycan gene mutations in Turkey 58
Familial dilated cardiomyopathy associated with the typical dystrophin BMD mutation. Report on two additional cases 58
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 58
Candidate-gene testing for orphan limb-girdle muscular dystrophies 57
Prostaglandin E2 induction of binding activity to CRE and AP-2 elements in human T lymphocytes 57
The fourth component of the sarcoglycan complex 57
Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments 57
Transcriptional control by nuclear receptor 57
Functional Antagonism between OTX2 and NANOG Specifies a Spectrum of Heterogeneous Identities in Embryonic Stem Cells 57
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell 56
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample 56
Evaluation of the cardiomyopathy in Becker muscular dystrophy 56
Short 5’protuding oligonucleotides enhance binding of p53 to specific DNA sequences 56
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples 55
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 55
Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. 55
Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications 55
Metal binding sites of the estradiol receptor from calf uterus and their possible role in the regulation of receptor function 55
DNA strend breaks induce the formation of p53 protein stable complexes with p53 target site and modifyits protease sensitivity 55
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 55
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 55
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 54
Molecular and Muscle Pathology in a series of Caveolinopathy patients 54
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 54
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 54
Successful combined prenatal diagnosis for Duchenne and facio-scapulo- humeral dystrophies 53
Analysis of 22 deletion breakpoints in dystrophin intron 49 53
Particulate nature of the unoccupied uterine estrogen receptor 53
A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo 53
Reply to 53
Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review 53
Detection of a nonsense mutation in the dystrophin gene by multiple SSCP 52
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 52
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases 52
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 52
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies 51
Interaction between estrogen receptor and subcellular structures of target cells: nuclear localization of unoccupied receptor and its modification induced by estradiol 51
Genetic basis of limb-girdle muscular dystrophies: the 2014 update 51
Double carrier status in CANP3 and beta-sarcoglycan genes results in a mild disease phenotype 51
Clinical and genetic findings in sarcoglycanopathies 50
Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein) 50
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 49
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells 49
Serum anti-p53 antibodies and progression of hepatic diseases HCV related. 49
Gene redundancies in the dystrophin-associated protein complex 48
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F 48
Piccoli oligonucleotidi attivano la funzione di p53 modificando la sua affinità per specifiche sequenze di DNA 48
Le conseil genetique dans les dystrophies musculaires: resultats de 10 ans d'approche moleculaire 48
Heart involvement in Emery-Dreifuss muscular dystrophies: new parameters to detect early atrial fibrosis and vulnerability 48
Acta Myologica Online 48
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Menetrier-like gastropathy 48
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 48
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 48
Totale 6.047
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Categoria #
all - tutte 50.598
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 50.598
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201941 0 0 0 0 0 0 0 0 0 0 17 24
2019/20201.482 283 245 40 41 271 38 274 44 95 46 67 38
2020/20212.022 174 20 224 158 410 19 264 206 24 230 211 82
2021/20221.973 125 8 28 46 574 27 44 111 77 212 154 567
2022/20234.144 360 122 50 329 506 317 26 186 2.039 39 84 86
2023/20241.399 127 84 92 155 586 162 69 73 7 35 9 0
Totale 12.811