IRIS
BANFI, Sandro
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 12.811
NA - Nord America 7.277
AS - Asia 4.892
SA - Sud America 811
Continente sconosciuto - Info sul continente non disponibili 388
AF - Africa 52
OC - Oceania 19
AN - Antartide 1
Totale 26.251
Salva come PNG Salva come JPEG
Nazione #
RU - Federazione Russa 8.100
US - Stati Uniti d'America 7.128
SG - Singapore 1.679
IE - Irlanda 1.235
CN - Cina 1.097
IT - Italia 1.017
HK - Hong Kong 738
BR - Brasile 647
VN - Vietnam 647
UA - Ucraina 597
GB - Regno Unito 577
DE - Germania 460
SE - Svezia 192
KR - Corea 181
FI - Finlandia 176
FR - Francia 166
IN - India 164
GR - Grecia 99
JP - Giappone 92
TR - Turchia 92
AR - Argentina 58
CA - Canada 53
AT - Austria 33
EC - Ecuador 31
MX - Messico 30
NL - Olanda 29
BD - Bangladesh 28
ID - Indonesia 27
PK - Pakistan 27
CH - Svizzera 23
IQ - Iraq 22
BE - Belgio 20
PY - Paraguay 20
PL - Polonia 18
AU - Australia 17
ES - Italia 16
VE - Venezuela 16
CO - Colombia 15
ZA - Sudafrica 14
AE - Emirati Arabi Uniti 12
RO - Romania 12
UZ - Uzbekistan 12
GT - Guatemala 11
JM - Giamaica 11
CR - Costa Rica 10
PE - Perù 10
CZ - Repubblica Ceca 9
SA - Arabia Saudita 9
CL - Cile 8
MA - Marocco 8
AZ - Azerbaigian 6
DZ - Algeria 6
KZ - Kazakistan 6
LT - Lituania 6
TN - Tunisia 6
TT - Trinidad e Tobago 6
TW - Taiwan 6
DO - Repubblica Dominicana 5
EE - Estonia 5
EG - Egitto 5
JO - Giordania 5
KG - Kirghizistan 5
OM - Oman 5
PH - Filippine 5
AL - Albania 4
HN - Honduras 4
LB - Libano 4
MY - Malesia 4
NP - Nepal 4
PS - Palestinian Territory 4
TH - Thailandia 4
BG - Bulgaria 3
IR - Iran 3
KE - Kenya 3
LV - Lettonia 3
PA - Panama 3
PR - Porto Rico 3
PT - Portogallo 3
UY - Uruguay 3
BN - Brunei Darussalam 2
BO - Bolivia 2
CU - Cuba 2
DK - Danimarca 2
ET - Etiopia 2
NG - Nigeria 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
SC - Seychelles 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
SV - El Salvador 2
AG - Antigua e Barbuda 1
AQ - Antartide 1
AW - Aruba 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BM - Bermuda 1
BW - Botswana 1
BZ - Belize 1
EU - Europa 1
Totale 25.855
Salva come PNG Salva come JPEG
Città #
Moscow 2.956
Dublin 1.224
Jacksonville 899
San Jose 800
Santa Clara 779
Hong Kong 730
Singapore 656
Chandler 641
Council Bluffs 442
Ashburn 356
Ho Chi Minh City 235
Princeton 182
Seoul 180
Hefei 158
Boardman 149
Hanoi 149
Medford 144
Beijing 130
Bremen 124
Roxbury 118
Dallas 115
Bengaluru 109
Caserta 105
Ann Arbor 104
San Mateo 83
Wilmington 80
Naples 77
Woodbridge 71
Los Angeles 70
Cambridge 57
São Paulo 54
Munich 53
Milan 46
The Dalles 46
Aversa 43
New York 43
Jinan 41
Rome 41
Da Nang 34
Des Moines 33
Mountain View 30
Haiphong 27
Nanjing 27
Guangzhou 26
Nuremberg 26
Atlanta 23
Chicago 22
Memphis 22
Brussels 20
Houston 20
Düsseldorf 19
Biên Hòa 18
Florence 18
Rio de Janeiro 18
Frankfurt am Main 17
London 17
Istanbul 16
San Francisco 16
Vienna 16
Brasília 15
Norwalk 15
Orem 15
Turku 15
Amsterdam 14
Brooklyn 14
Helsinki 14
Tokyo 14
Atella 13
Auburn Hills 13
Bologna 13
Castelfranco Emilia 13
Hải Dương 13
Manchester 13
Zhengzhou 13
Napoli 12
Perth 12
Shenyang 12
Turin 12
Warsaw 12
Chennai 11
Denver 11
Falkenstein 11
Hangzhou 11
Nanchang 11
Ningbo 11
Phoenix 11
Tianjin 11
Torre del Greco 11
Guatemala City 10
Karachi 10
Mumbai 10
Belo Horizonte 9
Casoria 9
Changsha 9
Curitiba 9
Fortaleza 9
Palermo 9
Porto Alegre 9
Taiyuan 9
Taizhou 9
Totale 13.232
Salva come PNG Salva come JPEG
Nome #
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 251
Analisi di correlazione genotipo fenotipo in una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8 249
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 242
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 204
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial 192
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 188
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 184
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 181
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 180
AAV-miR-204 Protects from Retinal Degeneration by Attenuation of Microglia Activation and Photoreceptor Cell Death 175
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 172
Sicurezza ed efficacia della terapia genica nell'Amaurosi Congenita di Leber: un anno di followup. 170
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications. 165
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype 164
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes 164
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. 163
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with leber congenital amaurosis type 2 163
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 161
A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss 158
A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia 158
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 157
A novel mutation in SACS gene in a family from southern Italia 155
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 154
An atlas of gene expression and gene co-regulation in the human retina 154
Intrafamilial heterogeneity of congenital optic disc pit maculopathy 153
Pax6 Regulates Gene Expression in the Vertebrate Lens through miR-204 150
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 150
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration 149
A high-resolution anatomical atlas of the transcriptome in the mouse embryo 149
An interconnected data infrastructure to support large-scale rare disease research 148
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 148
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy 148
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 148
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa 148
Studio clinico genetico di pazienti con amaurosi congenita di Leber 148
A gene network regulating lysosomal biogenesis and function 146
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. 145
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) 144
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy 143
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly 142
Analisi di mutazione del gene XLRS1 in famiglie Italiane affette da retinoschisi X-linked congenita 142
Clinical and molecular characterization of achromatopsia patients: A longitudinal study 142
Voretigene neparvovec gene therapy in clinical practice: treatment of the first two italian pediatric patients 141
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients 140
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 140
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families 140
A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans 140
A practical guide to orient yourself in the labyrinth of genome databases 140
Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction 140
A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms 140
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 140
Clinical expression of juvenile x-linked retinoschisis in Italian families with mutations in the XLRS1 gene 140
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) 140
miR-181a/b control the assembly of visual circuitry by regulating retinal axon specification and growth 139
A high-resolution RNA expression atlas of Retinitis Pigmentosa genes in the human and mouse retinas 139
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations 139
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients 138
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 137
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 136
Molecular epidemiology of Usher syndrome in Italy 135
The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance 135
Identification of microRNA-regulated gene networks by expression analysis of target genes. 134
In vitro high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration 133
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice 133
A novel homeobox gene, vax2, controls the patterning of the eye dorso-ventral axis 133
Toward a novel medical device based on chromatic pupillometry for screening and monitoring of inherited ocular disease: A pilot study 133
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 132
Inherited Retinal Dystrophies: The role of gene expression regulators 132
Autosomal recessive retinitis pigmentosa gene analysis in Italian patients 132
Il mondo degli RNA non codificanti 132
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Menetrier-like gastropathy 132
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 131
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 131
Studio clinico-genetico di una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8. 131
Mutations in IMPG1 cause vitelliform macular dystrophies 130
MicroRNA-Restricted transgene expression in the retina 129
Development of a genotyping Microarray for usher syndrome 128
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis 127
Studio multicentrico nell’amaurosi congenita di leber: aspetti clinici e genetici 126
Retinite pigmentosa autosomica dominante: correlazione genotipo fenotipo in una famiglia italiana con mutazione nel gene NRL 126
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss 125
Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. 125
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 125
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 124
HOCTAR database: a unique resource for microRNA target prediction 124
Human chromosome 21 gene expression atlas in the mouse 124
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study 124
MiR-204 targeting of Ankrd13A controls both mesenchymal neural crest and lens cell migration 123
miR-340 inhibits tumor cell proliferation and induces apoptosis by targeting multiple negative regulators of p27 in non-small cell lung cancer 121
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset 121
Aspetti ecografici della retinoschisi X-linked congenita 121
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 120
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study 120
Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration 120
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa 120
TGF-β controls miR-181/ERK regulatory network during retinal axon specification and growth 120
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 120
Identification and characterization of microRNAs expressed in the mouse eye 119
microRNAs as biomarkers in Pompe disease 119
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort 118
Totale 14.504
Salva come PNG Salva come JPEG
Categoria #
all - tutte 89.621
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 89.621
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.096 0 0 0 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
2025/202613.334 452 688 708 628 1.059 7.505 662 416 492 384 196 144
2026/20271.797 107 377 965 348 0 0 0 0 0 0 0 0
Totale 26.251