IRIS
BANFI, Sandro
 Distribuzione geografica
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Continente #
EU - Europa 12.235
NA - Nord America 4.648
AS - Asia 4.036
SA - Sud America 760
AF - Africa 43
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 2
AN - Antartide 1
Totale 21.740
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Nazione #
RU - Federazione Russa 7.903
US - Stati Uniti d'America 4.594
SG - Singapore 1.442
IE - Irlanda 1.234
CN - Cina 982
IT - Italia 775
HK - Hong Kong 692
BR - Brasile 620
UA - Ucraina 594
GB - Regno Unito 533
DE - Germania 448
VN - Vietnam 267
SE - Svezia 192
KR - Corea 175
FI - Finlandia 174
FR - Francia 144
IN - India 143
GR - Grecia 98
TR - Turchia 89
JP - Giappone 79
AR - Argentina 53
AT - Austria 33
EC - Ecuador 26
ID - Indonesia 25
PK - Pakistan 25
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
UZ - Uzbekistan 11
AE - Emirati Arabi Uniti 9
PL - Polonia 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 21.740
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Città #
Moscow 2.816
Dublin 1.223
Jacksonville 896
Santa Clara 731
Hong Kong 692
Chandler 641
Singapore 537
Princeton 181
Seoul 175
Hefei 158
Boardman 149
Medford 144
Bremen 124
Roxbury 118
Ho Chi Minh City 109
Bengaluru 108
Beijing 106
Ashburn 105
Caserta 105
Ann Arbor 104
Dallas 103
San Mateo 83
Wilmington 79
Woodbridge 70
Naples 67
Cambridge 56
Hanoi 53
Munich 53
São Paulo 51
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
Tashkent 8
Asunción 7
Brno 7
Chicago 7
Falls Church 7
Frankfurt am Main 7
Guatemala City 7
Lanzhou 7
Maceió 7
Maletto 7
Mumbai 7
Pelotas 7
Quito 7
Ankara 6
Baghdad 6
Boston 6
Brooklyn 6
Columbus 6
Totale 10.795
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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 221
Analisi di correlazione genotipo fenotipo in una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8 214
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 202
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 173
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial 170
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 158
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 157
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 150
Sicurezza ed efficacia della terapia genica nell'Amaurosi Congenita di Leber: un anno di followup. 149
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 148
AAV-miR-204 Protects from Retinal Degeneration by Attenuation of Microglia Activation and Photoreceptor Cell Death 147
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications. 144
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype 142
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 142
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 142
An atlas of gene expression and gene co-regulation in the human retina 140
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes 139
A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia 137
A novel mutation in SACS gene in a family from southern Italia 136
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. 135
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 135
Intrafamilial heterogeneity of congenital optic disc pit maculopathy 135
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 135
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration 133
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with leber congenital amaurosis type 2 132
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 131
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 131
Studio clinico genetico di pazienti con amaurosi congenita di Leber 130
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) 130
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy 129
Analisi di mutazione del gene XLRS1 in famiglie Italiane affette da retinoschisi X-linked congenita 128
A high-resolution anatomical atlas of the transcriptome in the mouse embryo 127
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly 127
A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms 127
A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss 126
miR-181a/b control the assembly of visual circuitry by regulating retinal axon specification and growth 126
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa 126
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. 125
Pax6 Regulates Gene Expression in the Vertebrate Lens through miR-204 124
A practical guide to orient yourself in the labyrinth of genome databases 124
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 124
Clinical expression of juvenile x-linked retinoschisis in Italian families with mutations in the XLRS1 gene 124
Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction 123
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families 122
A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans 122
A high-resolution RNA expression atlas of Retinitis Pigmentosa genes in the human and mouse retinas 122
A gene network regulating lysosomal biogenesis and function 122
Clinical and molecular characterization of achromatopsia patients: A longitudinal study 122
Molecular epidemiology of Usher syndrome in Italy 121
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients 121
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 121
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy 120
MicroRNA-Restricted transgene expression in the retina 120
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 119
Autosomal recessive retinitis pigmentosa gene analysis in Italian patients 119
Studio clinico-genetico di una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8. 118
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 117
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations 117
A novel homeobox gene, vax2, controls the patterning of the eye dorso-ventral axis 116
Toward a novel medical device based on chromatic pupillometry for screening and monitoring of inherited ocular disease: A pilot study 116
Voretigene neparvovec gene therapy in clinical practice: treatment of the first two italian pediatric patients 116
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) 116
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients 115
An interconnected data infrastructure to support large-scale rare disease research 114
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 114
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Menetrier-like gastropathy 114
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 113
Mutations in IMPG1 cause vitelliform macular dystrophies 113
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 111
Identification of microRNA-regulated gene networks by expression analysis of target genes. 111
Development of a genotyping Microarray for usher syndrome 111
Inherited Retinal Dystrophies: The role of gene expression regulators 111
Retinite pigmentosa autosomica dominante: correlazione genotipo fenotipo in una famiglia italiana con mutazione nel gene NRL 111
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 111
HOCTAR database: a unique resource for microRNA target prediction 110
The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance 109
MiR-204 targeting of Ankrd13A controls both mesenchymal neural crest and lens cell migration 109
Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. 109
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 108
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis 107
miR-340 inhibits tumor cell proliferation and induces apoptosis by targeting multiple negative regulators of p27 in non-small cell lung cancer 106
Human chromosome 21 gene expression atlas in the mouse 106
Studio multicentrico nell’amaurosi congenita di leber: aspetti clinici e genetici 106
TGF-β controls miR-181/ERK regulatory network during retinal axon specification and growth 106
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice 105
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 105
Identification and characterization of microRNAs expressed in the mouse eye 105
Aspetti ecografici della retinoschisi X-linked congenita 105
microRNAs as biomarkers in Pompe disease 105
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss 103
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation 103
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study 103
MicroRNA target prediction by expression analysis of host genes 102
Proprioceptor pathway development is dependent on Math1 102
Sequencing analysis of forty-eight human IMAGE cDNA clones similar to Drosophila mutant protein 102
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset 102
In vitro high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration 101
Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development 101
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance 101
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 101
Totale 12.436
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Categoria #
all - tutte 73.248
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 73.248
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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
2025/202610.995 452 688 708 628 1.059 7.460 0 0 0 0 0 0
Totale 22.115