IRIS
BANFI, Sandro
 Distribuzione geografica
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Continente #
EU - Europa 3.969
NA - Nord America 3.559
AS - Asia 629
OC - Oceania 12
SA - Sud America 11
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.181
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Nazione #
US - Stati Uniti d'America 3.550
IE - Irlanda 1.227
IT - Italia 650
UA - Ucraina 587
GB - Regno Unito 506
DE - Germania 382
CN - Cina 265
SG - Singapore 235
SE - Svezia 189
FI - Finlandia 151
FR - Francia 123
GR - Grecia 98
TR - Turchia 75
KR - Corea 14
BE - Belgio 13
AU - Australia 12
PK - Pakistan 12
CH - Svizzera 10
IN - India 9
RO - Romania 9
BR - Brasile 8
CZ - Repubblica Ceca 7
GT - Guatemala 5
JP - Giappone 5
NL - Olanda 5
HK - Hong Kong 4
AE - Emirati Arabi Uniti 3
IR - Iran 3
PL - Polonia 3
RU - Federazione Russa 3
TW - Taiwan 3
CO - Colombia 2
CU - Cuba 2
ES - Italia 2
AT - Austria 1
BG - Bulgaria 1
DK - Danimarca 1
EU - Europa 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MX - Messico 1
PA - Panama 1
PE - Perù 1
Totale 8.181
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Città #
Dublin 1.217
Jacksonville 896
Chandler 641
Santa Clara 205
Princeton 181
Boardman 149
Medford 143
Singapore 139
Bremen 124
Roxbury 118
Ann Arbor 104
Caserta 104
San Mateo 83
Wilmington 79
Woodbridge 69
Cambridge 56
Beijing 47
Jinan 38
Naples 38
Munich 32
Des Moines 31
Mountain View 30
Nanjing 26
Ashburn 24
Aversa 22
Rome 20
Düsseldorf 19
Houston 16
Norwalk 15
Istanbul 14
New York 14
Seoul 14
Atella 13
Auburn Hills 13
Brussels 13
Castelfranco Emilia 12
Napoli 12
Zhengzhou 12
Nanchang 11
Ningbo 11
Perth 11
Shenyang 11
Torre del Greco 11
Florence 10
Guangzhou 10
Tianjin 10
Taiyuan 9
Bologna 8
Hebei 8
Taizhou 8
Brno 7
Falls Church 7
Maletto 7
Haikou 6
Helsinki 6
Karachi 6
Lanzhou 6
Los Angeles 6
Milan 6
Guatemala City 5
Hangzhou 5
Portici 5
Salerno 5
Boydton 4
Città di Castello 4
Hong Kong 4
Jiaxing 4
London 4
Padova 4
Peschiera Del Garda 4
Redwood City 4
Reggio Nell'emilia 4
Tappahannock 4
Washington 4
Dubai 3
Gunzenhausen 3
Menlo Park 3
Mianwali 3
Mumbai 3
Palermo 3
Porto Torres 3
Pozzuoli 3
San Giovanni Rotondo 3
Sarno 3
Taipei 3
Trento 3
Amsterdam 2
Arquata Scrivia 2
Avellino 2
Barranquilla 2
Brescia 2
Bresso 2
Cagliari 2
Changsha 2
Collegeville 2
Dallas 2
Fairfield 2
Ferno 2
Fortaleza 2
Fumone 2
Totale 5.086
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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 131
Analisi di correlazione genotipo fenotipo in una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8 131
Sicurezza ed efficacia della terapia genica nell'Amaurosi Congenita di Leber: un anno di followup. 94
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 83
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype 79
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 77
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial 76
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with leber congenital amaurosis type 2 74
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy 74
Studio clinico genetico di pazienti con amaurosi congenita di Leber 74
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. 70
Pax6 Regulates Gene Expression in the Vertebrate Lens through miR-204 70
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 68
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families 66
Studio clinico-genetico di una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8. 66
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 66
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 66
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. 64
miR-181a/b control the assembly of visual circuitry by regulating retinal axon specification and growth 63
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications. 63
Molecular epidemiology of Usher syndrome in Italy 63
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 63
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration 62
The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance 62
MicroRNA-Restricted transgene expression in the retina 62
Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction 62
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 62
An atlas of gene expression and gene co-regulation in the human retina 62
Intrafamilial heterogeneity of congenital optic disc pit maculopathy 62
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 61
MiR-204 targeting of Ankrd13A controls both mesenchymal neural crest and lens cell migration 61
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 61
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 61
A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia 60
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly 60
Retinite pigmentosa autosomica dominante: correlazione genotipo fenotipo in una famiglia italiana con mutazione nel gene NRL 60
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 59
Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. 58
Aspetti ecografici della retinoschisi X-linked congenita 58
TGF-β controls miR-181/ERK regulatory network during retinal axon specification and growth 58
Identification of microRNA-regulated gene networks by expression analysis of target genes. 57
A high-resolution anatomical atlas of the transcriptome in the mouse embryo 57
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes 57
miR-340 inhibits tumor cell proliferation and induces apoptosis by targeting multiple negative regulators of p27 in non-small cell lung cancer 56
Mutations in IMPG1 cause vitelliform macular dystrophies 56
Analisi di mutazione del gene XLRS1 in famiglie Italiane affette da retinoschisi X-linked congenita 56
A practical guide to orient yourself in the labyrinth of genome databases 55
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation 54
Proprioceptor pathway development is dependent on Math1 54
A novel mutation in SACS gene in a family from southern Italia 54
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa 54
Development of a genotyping Microarray for usher syndrome 53
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 53
HOCTAR database: a unique resource for microRNA target prediction 52
The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function 52
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 52
A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms 51
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 51
New Insight in Retinal Phenotype of Patient with AIPL1 Mutations 51
How to get the best of dbEST 50
Il mondo degli RNA non codificanti 50
Studio multicentrico nell’amaurosi congenita di leber: aspetti clinici e genetici 50
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Menetrier-like gastropathy 50
AAV-miR-204 Protects from Retinal Degeneration by Attenuation of Microglia Activation and Photoreceptor Cell Death 50
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations 49
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance 49
Inherited Retinal Dystrophies: The role of gene expression regulators 49
A gene network regulating lysosomal biogenesis and function 49
A novel homeobox gene, vax2, controls the patterning of the eye dorso-ventral axis 48
Human chromosome 21 gene expression atlas in the mouse 48
Clinical expression of juvenile x-linked retinoschisis in Italian families with mutations in the XLRS1 gene 48
Epidemiological survey of hereditary ataxias and spastic paraplegias in Molise, Italia 48
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients 48
Toward a novel medical device based on chromatic pupillometry for screening and monitoring of inherited ocular disease: A pilot study 48
Clinical and molecular characterization of achromatopsia patients: A longitudinal study 48
Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development 47
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa 47
Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye 47
Correlazione tra l’integrità dello strato dei fotorecettori retinici e la funzione visiva in pazienti affetti da Degenerazione maculare giovanile di Stargardt 47
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 47
Safety and efficacy of gene transfer for Leber's congenital amaurosis 46
A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans 46
The long non-coding RNA Vax2os1 controls the cell cycle progression of photoreceptor progenitors in the mouse retina 45
Molecular Genetics of Autosomal Dominant Retinitis Pigmentosa: Multicentric Italian Study 45
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity 45
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 45
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) 45
MicroRNA target prediction by expression analysis of host genes 44
Identification and characterization of AFG3L2, a novel paraplegin-related gene 44
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. 44
Identification and characterization of microRNAs expressed in the mouse eye 44
Autosomal recessive retinitis pigmentosa gene analysis in Italian patients 44
Clinical Findings in an Autosomal Dominant Italian Family With Mutation in the RP1 Gene 44
Clinica e genetica della retinite pigmentosa autosomica dominante: studio italiano multicentrico 44
BBS1 Mutations Underlie a Wide Spectrum of Phenotypes Ranging from Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome. 42
A high-resolution RNA expression atlas of Retinitis Pigmentosa genes in the human and mouse retinas 42
Descrizione del fenotipo clinico in una famiglia italiana con retinite pigmentosa autosomica dominante associata a mutazione del gene NRL 42
Reverse engineering a mouse embryonic stem cell-specific transcriptional network reveals a new modulator of neuronal differentiation 41
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus 41
EYA4, a novel vertebrate gene related to Drosophila eyes absent 41
Totale 5.688
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Categoria #
all - tutte 39.005
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 39.005
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020546 0 0 0 0 158 25 171 33 97 27 20 15
2020/20211.438 146 6 152 124 261 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
2024/2025445 27 49 25 69 275 0 0 0 0 0 0 0
Totale 8.480