IRIS
BANFI, Sandro
 Distribuzione geografica
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Continente #
EU - Europa 7.432
NA - Nord America 4.638
AS - Asia 4.014
SA - Sud America 757
AF - Africa 43
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 2
AN - Antartide 1
Totale 16.902
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Nazione #
US - Stati Uniti d'America 4.584
RU - Federazione Russa 3.102
SG - Singapore 1.433
IE - Irlanda 1.234
CN - Cina 979
IT - Italia 773
HK - Hong Kong 692
BR - Brasile 618
UA - Ucraina 594
GB - Regno Unito 533
DE - Germania 448
VN - Vietnam 261
SE - Svezia 192
KR - Corea 175
FI - Finlandia 174
FR - Francia 144
IN - India 142
GR - Grecia 98
TR - Turchia 89
JP - Giappone 79
AR - Argentina 52
AT - Austria 33
EC - Ecuador 26
ID - Indonesia 25
PK - Pakistan 24
BD - Bangladesh 23
PY - Paraguay 19
BE - Belgio 18
CA - Canada 18
IQ - Iraq 18
AU - Australia 14
CH - Svizzera 14
MX - Messico 14
NL - Olanda 14
ES - Italia 13
VE - Venezuela 13
ZA - Sudafrica 12
CO - Colombia 11
RO - Romania 11
AE - Emirati Arabi Uniti 9
PL - Polonia 9
UZ - Uzbekistan 9
CZ - Repubblica Ceca 8
GT - Guatemala 8
PE - Perù 7
SA - Arabia Saudita 7
DZ - Algeria 6
KZ - Kazakistan 6
MA - Marocco 6
AZ - Azerbaigian 5
CL - Cile 5
LT - Lituania 5
TW - Taiwan 5
EG - Egitto 4
KG - Kirghizistan 4
LB - Libano 4
OM - Oman 4
PS - Palestinian Territory 4
TN - Tunisia 4
AL - Albania 3
BG - Bulgaria 3
DO - Repubblica Dominicana 3
IR - Iran 3
JM - Giamaica 3
JO - Giordania 3
KE - Kenya 3
NP - Nepal 3
PA - Panama 3
UY - Uruguay 3
BN - Brunei Darussalam 2
BO - Bolivia 2
CR - Costa Rica 2
CU - Cuba 2
DK - Danimarca 2
ET - Etiopia 2
MY - Malesia 2
NG - Nigeria 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
TH - Thailandia 2
AQ - Antartide 1
BA - Bosnia-Erzegovina 1
BW - Botswana 1
EU - Europa 1
GF - Guiana Francese 1
IL - Israele 1
LU - Lussemburgo 1
LV - Lettonia 1
LY - Libia 1
MT - Malta 1
NZ - Nuova Zelanda 1
PT - Portogallo 1
SY - Repubblica araba siriana 1
TT - Trinidad e Tobago 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 16.902
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Città #
Dublin 1.223
Moscow 998
Jacksonville 896
Santa Clara 731
Hong Kong 692
Chandler 641
Singapore 528
Princeton 181
Seoul 175
Hefei 158
Boardman 149
Medford 144
Bremen 124
Roxbury 118
Bengaluru 108
Ho Chi Minh City 107
Beijing 106
Caserta 105
Ann Arbor 104
Dallas 103
Ashburn 98
San Mateo 83
Wilmington 79
Woodbridge 70
Naples 67
Cambridge 56
Munich 53
Hanoi 51
São Paulo 50
The Dalles 46
Jinan 41
Aversa 40
Des Moines 31
Los Angeles 30
Mountain View 30
Nanjing 27
Guangzhou 26
Nuremberg 26
New York 25
Rome 24
Düsseldorf 19
Brussels 18
Rio de Janeiro 18
Houston 17
Vienna 16
Istanbul 15
Norwalk 15
Turku 15
Atella 13
Auburn Hills 13
Zhengzhou 13
Brasília 12
Castelfranco Emilia 12
Helsinki 12
Milan 12
Napoli 12
Perth 12
Shenyang 12
Bologna 11
Da Nang 11
Hangzhou 11
London 11
Nanchang 11
Ningbo 11
San Francisco 11
Tianjin 11
Torre del Greco 11
Biên Hòa 10
Falkenstein 10
Florence 10
Karachi 10
Belo Horizonte 9
Casoria 9
Changsha 9
Curitiba 9
Porto Alegre 9
Taiyuan 9
Taizhou 9
Buenos Aires 8
Campinas 8
Haiphong 8
Hebei 8
Asunción 7
Brno 7
Falls Church 7
Frankfurt am Main 7
Guatemala City 7
Lanzhou 7
Maceió 7
Maletto 7
Mumbai 7
Pelotas 7
Quito 7
Tashkent 7
Ankara 6
Baghdad 6
Boston 6
Brooklyn 6
Chicago 6
Columbus 6
Totale 8.954
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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
Analisi di correlazione genotipo fenotipo in una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8 178
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 163
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 143
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial 136
Sicurezza ed efficacia della terapia genica nell'Amaurosi Congenita di Leber: un anno di followup. 128
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 127
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 125
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype 122
A Phase I Safety Study in Subjects with Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver The Gene For Human Rpe65 Into The Retinal Pigment Epithelium (Rpe) [AAV.RPE65-101]: Treatment and Follow up of 3 Italian Patients 117
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications. 114
AAV-miR-204 Protects from Retinal Degeneration by Attenuation of Microglia Activation and Photoreceptor Cell Death 114
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. 113
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 113
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 112
Studio clinico genetico di pazienti con amaurosi congenita di Leber 112
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with leber congenital amaurosis type 2 111
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 111
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 111
An atlas of gene expression and gene co-regulation in the human retina 111
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration 110
A novel mutation in SACS gene in a family from southern Italia 109
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy 108
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility 106
Intrafamilial heterogeneity of congenital optic disc pit maculopathy 106
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families 105
A high-resolution anatomical atlas of the transcriptome in the mouse embryo 105
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes 105
miR-181a/b control the assembly of visual circuitry by regulating retinal axon specification and growth 104
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly 104
A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia 103
Pax6 Regulates Gene Expression in the Vertebrate Lens through miR-204 102
Analisi di mutazione del gene XLRS1 in famiglie Italiane affette da retinoschisi X-linked congenita 102
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 102
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. 101
A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms 101
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 100
Molecular epidemiology of Usher syndrome in Italy 99
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 98
Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction 98
A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation 98
A practical guide to orient yourself in the labyrinth of genome databases 97
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa 97
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (Genetics in Medicine, (2018), 10.1038/s41436-018-0345-5) 97
Studio clinico-genetico di una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8. 96
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 94
Mutations in IMPG1 cause vitelliform macular dystrophies 93
The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance 93
MicroRNA-Restricted transgene expression in the retina 93
A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans 93
A gene network regulating lysosomal biogenesis and function 93
Clinical expression of juvenile x-linked retinoschisis in Italian families with mutations in the XLRS1 gene 93
Identification of microRNA-regulated gene networks by expression analysis of target genes. 92
Autosomal recessive retinitis pigmentosa gene analysis in Italian patients 92
Toward a novel medical device based on chromatic pupillometry for screening and monitoring of inherited ocular disease: A pilot study 92
Development of a genotyping Microarray for usher syndrome 91
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 91
A high-resolution RNA expression atlas of Retinitis Pigmentosa genes in the human and mouse retinas 91
Retinite pigmentosa autosomica dominante: correlazione genotipo fenotipo in una famiglia italiana con mutazione nel gene NRL 91
MiR-204 targeting of Ankrd13A controls both mesenchymal neural crest and lens cell migration 90
HOCTAR database: a unique resource for microRNA target prediction 90
A novel homeobox gene, vax2, controls the patterning of the eye dorso-ventral axis 90
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients 90
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Menetrier-like gastropathy 90
Voretigene neparvovec gene therapy in clinical practice: treatment of the first two italian pediatric patients 90
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) 90
Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. 89
Inherited Retinal Dystrophies: The role of gene expression regulators 89
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy 88
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 88
Studio multicentrico nell’amaurosi congenita di leber: aspetti clinici e genetici 87
TGF-β controls miR-181/ERK regulatory network during retinal axon specification and growth 87
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations 87
A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss 86
miR-340 inhibits tumor cell proliferation and induces apoptosis by targeting multiple negative regulators of p27 in non-small cell lung cancer 86
Proprioceptor pathway development is dependent on Math1 85
Aspetti ecografici della retinoschisi X-linked congenita 85
Clinical and molecular characterization of achromatopsia patients: A longitudinal study 85
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation 84
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 83
The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function 82
Identification and characterization of microRNAs expressed in the mouse eye 82
Phase I Safety Study In Subjects With Leber Congenital Amaurosis (Lca) Using Adeno-Associated Viral Vector To Deliver The Gene For Human Rpe65 Into The Retinal Pigment Epithelium (Rpe) [Aav.Rpe65-101]: Treatment And Follow Up Of 3 Italian Patients 82
An interconnected data infrastructure to support large-scale rare disease research 81
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 81
Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development 81
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 81
microRNAs as biomarkers in Pompe disease 81
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis 80
MicroRNA target prediction by expression analysis of host genes 80
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance 80
Sequencing analysis of forty-eight human IMAGE cDNA clones similar to Drosophila mutant protein 80
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset 80
Human chromosome 21 gene expression atlas in the mouse 80
Il mondo degli RNA non codificanti 80
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients 79
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 79
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study 79
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice 78
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations 78
Totale 9.837
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Categoria #
all - tutte 66.584
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 66.584
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021749 0 0 0 0 0 5 193 151 23 193 139 45
2021/20221.224 89 7 32 19 391 11 11 116 45 86 73 344
2022/20232.350 199 71 20 200 304 201 1 129 1.123 20 46 36
2023/2024937 75 29 39 76 327 28 30 42 4 21 72 194
2024/20253.085 27 49 25 69 467 441 499 321 337 390 235 225
2025/20266.157 452 688 708 628 1.059 2.622 0 0 0 0 0 0
Totale 17.277