IRIS
BANFI, Sandro
 Distribuzione geografica
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Continente #
EU - Europa 12.559
NA - Nord America 5.494
AS - Asia 4.715
SA - Sud America 788
AF - Africa 50
OC - Oceania 19
Continente sconosciuto - Info sul continente non disponibili 2
AN - Antartide 1
Totale 23.628
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Nazione #
RU - Federazione Russa 8.100
US - Stati Uniti d'America 5.424
SG - Singapore 1.577
IE - Irlanda 1.235
CN - Cina 1.066
IT - Italia 820
HK - Hong Kong 718
VN - Vietnam 647
BR - Brasile 634
UA - Ucraina 596
GB - Regno Unito 556
DE - Germania 457
SE - Svezia 192
FI - Finlandia 176
KR - Corea 176
FR - Francia 163
IN - India 156
GR - Grecia 99
TR - Turchia 92
JP - Giappone 86
AR - Argentina 57
AT - Austria 33
EC - Ecuador 29
BD - Bangladesh 28
PK - Pakistan 27
ID - Indonesia 26
MX - Messico 24
NL - Olanda 23
IQ - Iraq 22
CA - Canada 21
BE - Belgio 20
PY - Paraguay 20
AU - Australia 17
PL - Polonia 16
CH - Svizzera 15
ES - Italia 15
VE - Venezuela 15
ZA - Sudafrica 14
CO - Colombia 12
UZ - Uzbekistan 12
AE - Emirati Arabi Uniti 11
RO - Romania 11
SA - Arabia Saudita 9
CZ - Repubblica Ceca 8
GT - Guatemala 8
MA - Marocco 8
PE - Perù 8
CL - Cile 7
AZ - Azerbaigian 6
DZ - Algeria 6
KZ - Kazakistan 6
LT - Lituania 6
TN - Tunisia 6
TW - Taiwan 6
DO - Repubblica Dominicana 5
EG - Egitto 5
JO - Giordania 5
KG - Kirghizistan 5
OM - Oman 5
PH - Filippine 5
LB - Libano 4
PS - Palestinian Territory 4
TH - Thailandia 4
AL - Albania 3
BG - Bulgaria 3
IR - Iran 3
JM - Giamaica 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
LV - Lettonia 2
MY - Malesia 2
NG - Nigeria 2
NZ - Nuova Zelanda 2
PT - Portogallo 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
AQ - Antartide 1
BA - Bosnia-Erzegovina 1
BW - Botswana 1
EU - Europa 1
GF - Guiana Francese 1
HR - Croazia 1
IL - Israele 1
LU - Lussemburgo 1
LY - Libia 1
MT - Malta 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TT - Trinidad e Tobago 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 23.628
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Città #
Moscow 2.956
Dublin 1.224
Jacksonville 896
Santa Clara 735
Hong Kong 712
Chandler 641
Singapore 638
San Jose 460
Ho Chi Minh City 235
Ashburn 217
Princeton 181
Seoul 175
Hefei 158
Boardman 149
Hanoi 149
Medford 144
Bremen 124
Roxbury 118
Beijing 112
Bengaluru 109
Caserta 105
Ann Arbor 104
Dallas 104
San Mateo 83
Wilmington 79
Woodbridge 70
Naples 69
Cambridge 56
Munich 53
São Paulo 52
Los Angeles 51
The Dalles 46
Aversa 41
Jinan 41
Da Nang 34
Des Moines 33
Mountain View 30
New York 29
Haiphong 27
Nanjing 27
Guangzhou 26
Nuremberg 26
Rome 24
Brussels 20
Düsseldorf 19
Biên Hòa 18
Milan 18
Rio de Janeiro 18
Houston 17
Istanbul 16
London 16
Vienna 16
Norwalk 15
Turku 15
Frankfurt am Main 14
Helsinki 14
Atella 13
Atlanta 13
Auburn Hills 13
Hải Dương 13
Zhengzhou 13
Bologna 12
Brasília 12
Castelfranco Emilia 12
Manchester 12
Napoli 12
Orem 12
Perth 12
Shenyang 12
Warsaw 12
Amsterdam 11
Chennai 11
Falkenstein 11
Florence 11
Hangzhou 11
Nanchang 11
Ningbo 11
San Francisco 11
Tianjin 11
Torre del Greco 11
Karachi 10
Belo Horizonte 9
Casoria 9
Changsha 9
Council Bluffs 9
Curitiba 9
Fortaleza 9
Mumbai 9
Porto Alegre 9
Taiyuan 9
Taizhou 9
Tashkent 9
Asunción 8
Buenos Aires 8
Campinas 8
Chicago 8
Hebei 8
Quito 8
Tokyo 8
Boston 7
Totale 12.014
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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 237
Analisi di correlazione genotipo fenotipo in una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8 235
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 221
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 189
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial 179
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 171
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 169
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 165
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 165
AAV-miR-204 Protects from Retinal Degeneration by Attenuation of Microglia Activation and Photoreceptor Cell Death 163
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 158
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes 157
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype 154
Sicurezza ed efficacia della terapia genica nell'Amaurosi Congenita di Leber: un anno di followup. 154
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications. 152
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 151
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. 148
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with leber congenital amaurosis type 2 146
An atlas of gene expression and gene co-regulation in the human retina 146
A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia 144
A novel mutation in SACS gene in a family from southern Italia 143
Intrafamilial heterogeneity of congenital optic disc pit maculopathy 143
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 142
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 142
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 141
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 139
Studio clinico genetico di pazienti con amaurosi congenita di Leber 139
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration 138
A high-resolution anatomical atlas of the transcriptome in the mouse embryo 138
A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss 137
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy 137
An interconnected data infrastructure to support large-scale rare disease research 136
A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms 136
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 135
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) 135
Pax6 Regulates Gene Expression in the Vertebrate Lens through miR-204 134
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly 134
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa 134
Clinical expression of juvenile x-linked retinoschisis in Italian families with mutations in the XLRS1 gene 134
miR-181a/b control the assembly of visual circuitry by regulating retinal axon specification and growth 133
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. 133
Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction 133
Analisi di mutazione del gene XLRS1 in famiglie Italiane affette da retinoschisi X-linked congenita 133
Clinical and molecular characterization of achromatopsia patients: A longitudinal study 133
Voretigene neparvovec gene therapy in clinical practice: treatment of the first two italian pediatric patients 133
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy 132
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) 132
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 131
A high-resolution RNA expression atlas of Retinitis Pigmentosa genes in the human and mouse retinas 131
A gene network regulating lysosomal biogenesis and function 131
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients 131
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients 130
A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans 130
A practical guide to orient yourself in the labyrinth of genome databases 130
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations 130
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 128
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families 126
A novel homeobox gene, vax2, controls the patterning of the eye dorso-ventral axis 126
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 126
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 125
Molecular epidemiology of Usher syndrome in Italy 125
The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance 125
MicroRNA-Restricted transgene expression in the retina 125
Identification of microRNA-regulated gene networks by expression analysis of target genes. 124
Autosomal recessive retinitis pigmentosa gene analysis in Italian patients 123
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 122
Mutations in IMPG1 cause vitelliform macular dystrophies 121
Toward a novel medical device based on chromatic pupillometry for screening and monitoring of inherited ocular disease: A pilot study 121
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 120
Il mondo degli RNA non codificanti 120
Studio clinico-genetico di una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8. 120
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice 119
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis 119
Inherited Retinal Dystrophies: The role of gene expression regulators 119
Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. 118
Development of a genotyping Microarray for usher syndrome 118
Retinite pigmentosa autosomica dominante: correlazione genotipo fenotipo in una famiglia italiana con mutazione nel gene NRL 118
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Menetrier-like gastropathy 118
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 117
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 116
Studio multicentrico nell’amaurosi congenita di leber: aspetti clinici e genetici 116
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 115
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 115
In vitro high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration 114
HOCTAR database: a unique resource for microRNA target prediction 114
Human chromosome 21 gene expression atlas in the mouse 114
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study 114
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss 113
MiR-204 targeting of Ankrd13A controls both mesenchymal neural crest and lens cell migration 113
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset 113
TGF-β controls miR-181/ERK regulatory network during retinal axon specification and growth 113
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 112
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study 110
miR-340 inhibits tumor cell proliferation and induces apoptosis by targeting multiple negative regulators of p27 in non-small cell lung cancer 110
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation 110
Identification and characterization of microRNAs expressed in the mouse eye 110
Aspetti ecografici della retinoschisi X-linked congenita 110
microRNAs as biomarkers in Pompe disease 110
Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration 109
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance 109
Totale 13.410
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Categoria #
all - tutte 76.731
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 76.731
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021377 0 0 0 0 0 0 0 0 0 193 139 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
2025/202612.887 452 688 708 628 1.059 7.505 662 416 492 277 0 0
Totale 24.007