IRIS
BANFI, Sandro
 Distribuzione geografica
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Continente #
EU - Europa 3.923
NA - Nord America 3.386
AS - Asia 537
OC - Oceania 12
SA - Sud America 11
Continente sconosciuto - Info sul continente non disponibili 1
Totale 7.870
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Nazione #
US - Stati Uniti d'America 3.382
IE - Irlanda 1.246
IT - Italia 598
UA - Ucraina 588
GB - Regno Unito 512
DE - Germania 356
CN - Cina 261
SE - Svezia 189
SG - Singapore 179
FI - Finlandia 153
FR - Francia 124
GR - Grecia 99
TR - Turchia 61
BE - Belgio 14
AU - Australia 12
PK - Pakistan 12
CH - Svizzera 10
IN - India 9
RO - Romania 9
BR - Brasile 8
CZ - Repubblica Ceca 7
JP - Giappone 5
NL - Olanda 5
AE - Emirati Arabi Uniti 3
PL - Polonia 3
RU - Federazione Russa 3
TW - Taiwan 3
CO - Colombia 2
CU - Cuba 2
ES - Italia 2
HK - Hong Kong 2
AT - Austria 1
BG - Bulgaria 1
DK - Danimarca 1
EU - Europa 1
HU - Ungheria 1
KR - Corea 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MX - Messico 1
PA - Panama 1
PE - Perù 1
Totale 7.870
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Città #
Dublin 1.236
Jacksonville 896
Chandler 651
Princeton 184
Boardman 151
Medford 143
Bremen 127
Roxbury 121
Ann Arbor 104
Caserta 104
Singapore 102
San Mateo 83
Wilmington 80
Woodbridge 69
Cambridge 59
Beijing 47
Jinan 38
Des Moines 31
Mountain View 30
Ashburn 27
Nanjing 26
Rome 20
Düsseldorf 19
Naples 18
Houston 16
New York 16
Norwalk 15
Brussels 14
Atella 13
Auburn Hills 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
Karachi 6
Lanzhou 6
Lappeenranta 6
Hangzhou 5
Milan 5
Portici 5
Salerno 5
Washington 5
Aversa 4
Boydton 4
Città di Castello 4
Helsinki 4
Jiaxing 4
London 4
Los Angeles 4
Munich 4
Padova 4
Peschiera Del Garda 4
Redwood City 4
Reggio Nell'emilia 4
Tappahannock 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
Arzano 2
Avellino 2
Barranquilla 2
Brescia 2
Bresso 2
Cagliari 2
Changsha 2
Collegeville 2
Dallas 2
Fairfield 2
Fortaleza 2
Fumone 2
Gavirate 2
Hong Kong 2
Modena 2
Nürnberg 2
Totale 4.801
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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 130
Analisi di correlazione genotipo fenotipo in una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8 128
Sicurezza ed efficacia della terapia genica nell'Amaurosi Congenita di Leber: un anno di followup. 92
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 82
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype 78
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial 73
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with leber congenital amaurosis type 2 72
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy 72
Studio clinico genetico di pazienti con amaurosi congenita di Leber 72
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. 68
Pax6 Regulates Gene Expression in the Vertebrate Lens through miR-204 68
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 65
Studio clinico-genetico di una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8. 64
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 64
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. 63
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families 63
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 62
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 62
miR-181a/b control the assembly of visual circuitry by regulating retinal axon specification and growth 61
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications. 61
Molecular epidemiology of Usher syndrome in Italy 61
MicroRNA-Restricted transgene expression in the retina 61
Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction 61
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 61
Intrafamilial heterogeneity of congenital optic disc pit maculopathy 61
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration 60
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 60
The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance 60
An atlas of gene expression and gene co-regulation in the human retina 60
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 60
A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia 58
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 58
Retinite pigmentosa autosomica dominante: correlazione genotipo fenotipo in una famiglia italiana con mutazione nel gene NRL 58
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 58
MiR-204 targeting of Ankrd13A controls both mesenchymal neural crest and lens cell migration 57
Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. 57
TGF-β controls miR-181/ERK regulatory network during retinal axon specification and growth 57
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly 56
Aspetti ecografici della retinoschisi X-linked congenita 56
miR-340 inhibits tumor cell proliferation and induces apoptosis by targeting multiple negative regulators of p27 in non-small cell lung cancer 55
Identification of microRNA-regulated gene networks by expression analysis of target genes. 55
Mutations in IMPG1 cause vitelliform macular dystrophies 54
A high-resolution anatomical atlas of the transcriptome in the mouse embryo 54
Analisi di mutazione del gene XLRS1 in famiglie Italiane affette da retinoschisi X-linked congenita 54
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa 53
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation 52
Proprioceptor pathway development is dependent on Math1 52
A novel mutation in SACS gene in a family from southern Italia 51
A practical guide to orient yourself in the labyrinth of genome databases 51
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 51
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 51
HOCTAR database: a unique resource for microRNA target prediction 50
The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function 50
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 50
Development of a genotyping Microarray for usher syndrome 49
A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms 49
Il mondo degli RNA non codificanti 49
Studio multicentrico nell’amaurosi congenita di leber: aspetti clinici e genetici 49
New Insight in Retinal Phenotype of Patient with AIPL1 Mutations 49
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Menetrier-like gastropathy 49
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations 48
How to get the best of dbEST 48
Inherited Retinal Dystrophies: The role of gene expression regulators 48
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 48
A gene network regulating lysosomal biogenesis and function 48
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance 47
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes 47
Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development 46
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa 46
Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye 46
A novel homeobox gene, vax2, controls the patterning of the eye dorso-ventral axis 46
Human chromosome 21 gene expression atlas in the mouse 46
Epidemiological survey of hereditary ataxias and spastic paraplegias in Molise, Italia 46
Correlazione tra l’integrità dello strato dei fotorecettori retinici e la funzione visiva in pazienti affetti da Degenerazione maculare giovanile di Stargardt 46
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients 46
Toward a novel medical device based on chromatic pupillometry for screening and monitoring of inherited ocular disease: A pilot study 46
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 46
A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans 45
Clinical expression of juvenile x-linked retinoschisis in Italian families with mutations in the XLRS1 gene 45
AAV-miR-204 Protects from Retinal Degeneration by Attenuation of Microglia Activation and Photoreceptor Cell Death 45
Molecular Genetics of Autosomal Dominant Retinitis Pigmentosa: Multicentric Italian Study 44
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity 44
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 44
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) 44
MicroRNA target prediction by expression analysis of host genes 43
Safety and efficacy of gene transfer for Leber's congenital amaurosis 43
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. 43
Identification and characterization of microRNAs expressed in the mouse eye 43
The long non-coding RNA Vax2os1 controls the cell cycle progression of photoreceptor progenitors in the mouse retina 43
Autosomal recessive retinitis pigmentosa gene analysis in Italian patients 43
Clinical Findings in an Autosomal Dominant Italian Family With Mutation in the RP1 Gene 43
Clinica e genetica della retinite pigmentosa autosomica dominante: studio italiano multicentrico 43
Clinical and molecular characterization of achromatopsia patients: A longitudinal study 43
Identification and characterization of AFG3L2, a novel paraplegin-related gene 42
BBS1 Mutations Underlie a Wide Spectrum of Phenotypes Ranging from Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome. 41
Descrizione del fenotipo clinico in una famiglia italiana con retinite pigmentosa autosomica dominante associata a mutazione del gene NRL 41
Reverse engineering a mouse embryonic stem cell-specific transcriptional network reveals a new modulator of neuronal differentiation 40
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 40
A high-resolution RNA expression atlas of Retinitis Pigmentosa genes in the human and mouse retinas 40
Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated With Mutation in the NRL Gene: Report of an Italian Family 40
Totale 5.473
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Categoria #
all - tutte 33.876
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 33.876
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020926 186 162 23 9 158 25 171 33 97 27 20 15
2020/20211.438 146 6 152 124 261 5 193 151 23 193 139 45
2021/20221.248 89 7 36 19 397 11 11 117 45 92 73 351
2022/20232.390 203 71 20 206 308 205 1 131 1.139 20 50 36
2023/2024971 77 31 42 79 336 32 32 42 4 22 75 199
2024/202520 20 0 0 0 0 0 0 0 0 0 0 0
Totale 8.153