IRIS
ARIANI, FRANCESCA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 10.914
EU - Europa 9.494
AS - Asia 4.312
SA - Sud America 706
Continente sconosciuto - Info sul continente non disponibili 287
AF - Africa 238
OC - Oceania 28
Totale 25.979
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 10.721
IT - Italia 2.087
RU - Federazione Russa 1.781
GB - Regno Unito 1.760
CN - Cina 1.389
SG - Singapore 1.237
IE - Irlanda 962
DE - Germania 709
BR - Brasile 561
VN - Vietnam 540
SE - Svezia 513
UA - Ucraina 451
FR - Francia 446
HK - Hong Kong 368
FI - Finlandia 304
KR - Corea 176
BD - Bangladesh 146
NL - Olanda 143
ZA - Sudafrica 131
IN - India 121
CA - Canada 108
ES - Italia 77
TR - Turchia 73
BE - Belgio 61
PL - Polonia 53
AR - Argentina 43
MX - Messico 42
CZ - Repubblica Ceca 38
JP - Giappone 38
IQ - Iraq 35
EC - Ecuador 31
CO - Colombia 24
AT - Austria 22
CI - Costa d'Avorio 22
IR - Iran 22
AU - Australia 21
NG - Nigeria 21
PK - Pakistan 21
SA - Arabia Saudita 21
ID - Indonesia 20
LT - Lituania 15
CL - Cile 14
AE - Emirati Arabi Uniti 13
KE - Kenya 12
UZ - Uzbekistan 12
VE - Venezuela 12
TN - Tunisia 11
MA - Marocco 10
CH - Svizzera 9
GR - Grecia 9
MY - Malesia 9
PY - Paraguay 9
EG - Egitto 8
DK - Danimarca 7
KZ - Kazakistan 7
NP - Nepal 7
JO - Giordania 6
KG - Kirghizistan 6
PH - Filippine 6
AL - Albania 5
AZ - Azerbaigian 5
BB - Barbados 5
BG - Bulgaria 5
NZ - Nuova Zelanda 5
PA - Panama 5
PE - Perù 5
SN - Senegal 5
AO - Angola 4
BA - Bosnia-Erzegovina 4
BO - Bolivia 4
ET - Etiopia 4
GT - Guatemala 4
HN - Honduras 4
HU - Ungheria 4
IL - Israele 4
JM - Giamaica 4
MD - Moldavia 4
OM - Oman 4
PR - Porto Rico 4
SK - Slovacchia (Repubblica Slovacca) 4
TT - Trinidad e Tobago 4
BW - Botswana 3
CR - Costa Rica 3
CY - Cipro 3
HR - Croazia 3
LB - Libano 3
LV - Lettonia 3
PT - Portogallo 3
RO - Romania 3
RS - Serbia 3
BH - Bahrain 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
EU - Europa 2
GE - Georgia 2
KH - Cambogia 2
KW - Kuwait 2
LA - Repubblica Popolare Democratica del Laos 2
LK - Sri Lanka 2
Totale 25.664
Salva come PNG Salva come JPEG
Città #
Southend 1.517
Dallas 1.400
Fairfield 960
Dublin 947
Ashburn 934
Singapore 738
Chandler 543
Santa Clara 511
San Jose 509
Woodbridge 458
Moscow 456
Milan 417
Seattle 413
Beijing 390
Houston 376
Jacksonville 362
Wilmington 357
Hong Kong 351
Ann Arbor 344
Cambridge 324
Siena 263
Council Bluffs 249
Munich 234
Hefei 213
Los Angeles 191
Seoul 175
Menlo Park 174
Helsinki 160
Ho Chi Minh City 158
Rome 155
New York 152
Princeton 142
Johannesburg 125
Nanjing 122
Hanoi 116
The Dalles 108
Lauterbourg 104
Florence 100
Boardman 78
Buffalo 70
Shanghai 65
São Paulo 61
Columbus 56
Dearborn 54
San Diego 53
Nanchang 51
Orem 49
Chicago 46
San Mateo 44
Warsaw 44
Izmir 43
Brussels 42
Turku 42
London 40
Lancaster 39
Málaga 36
Dong Ket 33
Tokyo 33
Nuremberg 32
Brescia 31
Toronto 31
Frankfurt am Main 28
Haiphong 28
Phoenix 28
Montreal 27
Chennai 26
Naples 26
Washington 26
Rio de Janeiro 24
Turin 24
Brno 23
Denver 23
Redondo Beach 23
Shenyang 23
Stockholm 23
Abidjan 22
Hebei 22
Tianjin 22
Abuja 21
Bengaluru 21
Figino 21
Da Nang 20
Düsseldorf 19
Norwalk 19
Atlanta 18
Bologna 18
Boston 18
Jiaxing 18
Waanrode 18
Amsterdam 17
Brooklyn 17
Jinan 17
Lappeenranta 17
Mexico City 17
Paris 17
Verona 17
Guangzhou 16
Manchester 16
Ningbo 16
San Francisco 16
Totale 17.133
Salva come PNG Salva come JPEG
Nome #
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 538
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 475
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 442
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 412
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 397
An explainable model of host genetic interactions linked to COVID-19 severity 391
Evidence of predisposing epimutation in retinoblastoma 390
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 388
Pathogen-sugar interactions revealed by universal saturation transfer analysis 375
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 361
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 360
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 358
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 347
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA. 344
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 343
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 338
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 336
Alport syndrome: impact of digenic inheritance in patients management 330
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 324
Genomic differences between retinoma and retinoblastoma 322
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 322
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 315
Evidence of digenic inheritance in Alport syndrome 309
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 304
Visual impairment in FOXG1-mutated individuals and mice 302
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 299
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 291
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 288
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 283
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 283
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 281
Private inherited microdeletion/microduplications: implications in clinical practice 281
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 280
Advances in Alport syndrome diagnosis using next-generation sequencing 276
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 275
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 267
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 262
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 257
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 256
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 256
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 255
Non-collagen genes role in digenic Alport syndrome 250
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 248
Investigation of modifier genes within copy number variations in Rett syndrome 246
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 244
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 244
X-linked mental retardation: a diagnostic, clinical and molecular update 243
Exploiting the potential of next-generation sequencing in genomic medicine 239
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 235
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 234
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 233
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 232
Italian Rett database and biobank 230
iPS cells to model CDKL5-related disorders 221
Il gene optineurina (OPTN) non è implicato nel glaucoma primario ad angolo aperto 221
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report 213
Vav1 haploinsufficiency in a common variable immunodeficiency patient with defective T-cell function. 209
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant 206
Rett syndrome: the complex nature of a monogenic disease 206
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases 205
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 205
Analysis of optineurin gene in italian primary open angle glaucoma 203
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria 202
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case 202
New candidates for autism/intellectual disability identified by whole-exome sequencing 201
Natural history of KBG syndrome in a large European cohort 197
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 196
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 194
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 193
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome 191
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder 188
The XLMR gene ACSL4 plays a role in dendritic spine architecture 187
FOXG1 is responsible for the congenital variant of Rett syndrome. 184
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism 183
null 182
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 181
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 181
Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder 181
Preserved speech variant of the Rett syndrome: clinical and molecular study in a patient. 179
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 177
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 175
The Italian XLMR bank: a clinical and molecular database 174
Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma 171
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease 170
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 170
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 169
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. 169
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit. 168
La sindrome di Rett e le varianti fenotipiche: dalla clinica alla genetica. 167
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 164
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma 163
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 163
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 161
Identification of a novel pathogenic variant in the NAGLU gene in a child with neurodevelopmental delay 160
MECP2 deletions and genotype-phenotype correlation in Rett syndrome 148
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 144
Spondyloocular Syndrome: a novel XYLT2 variant with description of the neonatal phenotype 143
Evaluation of optinuerin gene mutations in the common high-tension form of primary open angle glaucoma 142
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls 134
null 133
Totale 24.867
Salva come PNG Salva come JPEG
Categoria #
all - tutte 80.503
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 80.503
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.036 0 0 63 127 54 27 77 45 68 144 147 284
2022/20232.028 105 195 234 249 192 351 136 176 195 71 78 46
2023/20241.752 76 57 183 127 77 415 526 55 17 60 44 115
2024/20253.574 133 193 387 223 441 263 164 212 277 145 356 780
2025/20268.989 589 1.184 1.110 1.106 1.695 308 1.014 280 317 460 280 646
2026/2027892 350 260 282 0 0 0 0 0 0 0 0 0
Totale 25.979