IRIS
ARIANI, FRANCESCA
 Distribuzione geografica
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Continente #
EU - Europa 6.187
NA - Nord America 6.171
AS - Asia 930
AF - Africa 23
OC - Oceania 22
SA - Sud America 6
Continente sconosciuto - Info sul continente non disponibili 2
Totale 13.341
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Nazione #
US - Stati Uniti d'America 6.148
GB - Regno Unito 1.670
IT - Italia 1.096
IE - Irlanda 962
CN - Cina 610
SE - Svezia 486
UA - Ucraina 440
DE - Germania 431
RU - Federazione Russa 413
FR - Francia 293
FI - Finlandia 183
SG - Singapore 171
BE - Belgio 54
TR - Turchia 51
ES - Italia 46
NL - Olanda 39
VN - Vietnam 34
CZ - Repubblica Ceca 29
CA - Canada 19
CI - Costa d'Avorio 19
AU - Australia 18
IN - India 15
IR - Iran 10
HK - Hong Kong 9
PL - Polonia 8
GR - Grecia 7
AT - Austria 4
JP - Giappone 4
NZ - Nuova Zelanda 4
PK - Pakistan 4
AZ - Azerbaigian 3
BA - Bosnia-Erzegovina 3
BG - Bulgaria 3
CH - Svizzera 3
CL - Cile 3
DK - Danimarca 3
LT - Lituania 3
BR - Brasile 2
EU - Europa 2
HR - Croazia 2
HU - Ungheria 2
ID - Indonesia 2
IL - Israele 2
KH - Cambogia 2
LK - Sri Lanka 2
LV - Lettonia 2
MA - Marocco 2
ZA - Sudafrica 2
AL - Albania 1
BY - Bielorussia 1
CY - Cipro 1
EC - Ecuador 1
GD - Grenada 1
IQ - Iraq 1
JM - Giamaica 1
KG - Kirghizistan 1
KR - Corea 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
MS - Montserrat 1
MY - Malesia 1
PA - Panama 1
PH - Filippine 1
PT - Portogallo 1
RO - Romania 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TM - Turkmenistan 1
TW - Taiwan 1
Totale 13.341
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Città #
Southend 1.525
Fairfield 970
Dublin 947
Ashburn 561
Chandler 550
Woodbridge 466
Seattle 401
Jacksonville 365
Houston 364
Wilmington 362
Ann Arbor 344
Cambridge 328
Siena 254
Menlo Park 174
Beijing 150
Princeton 143
Singapore 125
Nanjing 124
Helsinki 102
New York 79
Boardman 70
Florence 69
Milan 55
Dearborn 54
San Diego 51
Shanghai 51
Nanchang 50
Rome 49
San Mateo 45
Izmir 43
Munich 37
Lancaster 36
Málaga 36
Brussels 35
Dong Ket 33
Moscow 26
Shenyang 23
Hebei 22
London 22
Brno 21
Los Angeles 20
Tianjin 20
Washington 20
Abidjan 19
Norwalk 18
Waanrode 18
Brescia 17
Jiaxing 16
Ningbo 16
Padova 15
Guangzhou 13
Kunming 13
Changsha 12
Jinan 12
Nuremberg 12
Redwood City 11
Toronto 11
Zhengzhou 11
Comun Nuovo 10
Hangzhou 10
Taizhou 10
Venezia 10
Naples 9
Bologna 8
Chicago 8
Phoenix 8
Aachen 7
Catanzaro 7
Dallas 7
Düsseldorf 7
Empoli 7
Fremont 7
Hong Kong 7
Perth 7
San Francisco 7
Sesto Fiorentino 7
Verona 7
Anagni 6
Bergamo 6
Canberra 6
Catania 6
Espoo 6
Ferrara 6
Livorno 6
Mestre 6
Paris 6
Rubano 6
Southwark 6
Brindisi 5
Genova 5
Grosseto 5
Migliarino 5
Pisa 5
Venice 5
Zanjan 5
Bari 4
Bolzano 4
Cagliari 4
Changchun 4
Falls Church 4
Totale 9.707
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Nome #
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 332
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 264
Evidence of predisposing epimutation in retinoblastoma 252
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 250
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 226
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 225
Visual impairment in FOXG1-mutated individuals and mice 224
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 215
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA. 211
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 208
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 198
Alport syndrome: impact of digenic inheritance in patients management 198
Evidence of digenic inheritance in Alport syndrome 191
Genomic differences between retinoma and retinoblastoma 188
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 187
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 183
null 182
Non-collagen genes role in digenic Alport syndrome 181
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 178
Exploiting the potential of next-generation sequencing in genomic medicine 175
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 175
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 173
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 173
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 172
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 169
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 167
Private inherited microdeletion/microduplications: implications in clinical practice 167
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 167
Advances in Alport syndrome diagnosis using next-generation sequencing 161
X-linked mental retardation: a diagnostic, clinical and molecular update 160
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 160
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 157
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 155
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 153
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 151
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 150
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 150
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 148
Il gene optineurina (OPTN) non è implicato nel glaucoma primario ad angolo aperto 145
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 143
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 141
iPS cells to model CDKL5-related disorders 140
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 140
Italian Rett database and biobank 139
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 139
Investigation of modifier genes within copy number variations in Rett syndrome 138
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases 135
null 133
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 132
Pathogen-sugar interactions revealed by universal saturation transfer analysis 131
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 130
The XLMR gene ACSL4 plays a role in dendritic spine architecture 128
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 126
Vav1 haploinsufficiency in a common variable immunodeficiency patient with defective T-cell function. 125
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism 125
Rett syndrome: the complex nature of a monogenic disease 124
null 123
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 121
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria 119
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case 117
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 116
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 115
FOXG1 is responsible for the congenital variant of Rett syndrome. 114
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome 114
Preserved speech variant of the Rett syndrome: clinical and molecular study in a patient. 113
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. 113
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease 111
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma 108
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett Syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication 107
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 107
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 107
The Italian XLMR bank: a clinical and molecular database 105
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit. 105
MECP2 deletions and genotype-phenotype correlation in Rett syndrome 105
An explainable model of host genetic interactions linked to COVID-19 severity 103
A third MRX family (MRX68) is due to mutation in the Long-Chain Fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients 100
La sindrome di Rett e le varianti fenotipiche: dalla clinica alla genetica. 94
Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma 94
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 92
Analysis of optineurin gene in italian primary open angle glaucoma 91
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report 91
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 87
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls 81
Natural history of KBG syndrome in a large European cohort 76
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 74
Evaluation of optinuerin gene mutations in the common high-tension form of primary open angle glaucoma 73
Mutazioni del gene MYOC in famiglie con glaucoma 70
Identification of a novel pathogenic variant in the NAGLU gene in a child with neurodevelopmental delay 69
Mutazioni missenso nel gene Myoc in pazienti in una famiglia con glaucoma primario dell‟adulto 67
Spondyloocular Syndrome: a novel XYLT2 variant with description of the neonatal phenotype 67
New candidates for autism/intellectual disability identified by whole-exome sequencing 62
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 59
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 53
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 52
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 52
VAV1 HAPLOINSUFFICIENCY IN COMMON VARIABLE IMMUNODEFICIENCY WITH DEFECTIVE T CELL FUNCTION 47
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 45
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability 45
Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder 43
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 41
Totale 13.438
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Categoria #
all - tutte 46.690
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 46.690
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.707 0 0 0 0 223 226 242 340 238 207 79 152
2020/20211.993 96 204 115 188 119 152 108 246 206 269 164 126
2021/20221.323 96 183 64 128 54 28 77 45 70 145 147 286
2022/20232.049 106 198 235 252 197 354 136 177 196 71 79 48
2023/20241.763 77 57 184 127 77 416 529 57 19 60 45 115
2024/2025976 118 190 378 217 73 0 0 0 0 0 0 0
Totale 13.611