IRIS
ARIANI, FRANCESCA
 Distribuzione geografica
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Continente #
NA - Nord America 9.109
EU - Europa 8.445
AS - Asia 3.301
SA - Sud America 584
AF - Africa 69
OC - Oceania 26
Continente sconosciuto - Info sul continente non disponibili 3
Totale 21.537
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Nazione #
US - Stati Uniti d'America 8.996
RU - Federazione Russa 1.779
GB - Regno Unito 1.717
IT - Italia 1.355
CN - Cina 1.278
SG - Singapore 1.068
IE - Irlanda 958
DE - Germania 691
SE - Svezia 505
BR - Brasile 498
UA - Ucraina 444
FR - Francia 322
HK - Hong Kong 290
FI - Finlandia 277
KR - Corea 174
VN - Vietnam 157
NL - Olanda 109
IN - India 74
ES - Italia 66
TR - Turchia 65
BE - Belgio 61
CA - Canada 61
PL - Polonia 44
CZ - Repubblica Ceca 36
MX - Messico 34
BD - Bangladesh 32
AR - Argentina 31
JP - Giappone 28
CI - Costa d'Avorio 21
IQ - Iraq 21
AU - Australia 20
IR - Iran 20
AT - Austria 18
ZA - Sudafrica 18
EC - Ecuador 17
SA - Arabia Saudita 15
ID - Indonesia 12
LT - Lituania 12
PK - Pakistan 12
CO - Colombia 11
MA - Marocco 10
AE - Emirati Arabi Uniti 9
CL - Cile 8
GR - Grecia 7
PY - Paraguay 7
DK - Danimarca 6
TN - Tunisia 6
CH - Svizzera 5
NZ - Nuova Zelanda 5
PE - Perù 5
VE - Venezuela 5
AZ - Azerbaigian 4
BA - Bosnia-Erzegovina 4
BG - Bulgaria 4
HU - Ungheria 4
IL - Israele 4
KG - Kirghizistan 4
KZ - Kazakistan 4
AL - Albania 3
HN - Honduras 3
HR - Croazia 3
MY - Malesia 3
NP - Nepal 3
PT - Portogallo 3
SK - Slovacchia (Repubblica Slovacca) 3
SN - Senegal 3
UZ - Uzbekistan 3
AO - Angola 2
BB - Barbados 2
CY - Cipro 2
DO - Repubblica Dominicana 2
EU - Europa 2
GT - Guatemala 2
JM - Giamaica 2
KE - Kenya 2
KH - Cambogia 2
LB - Libano 2
LK - Sri Lanka 2
LV - Lettonia 2
PA - Panama 2
PH - Filippine 2
RS - Serbia 2
TM - Turkmenistan 2
BW - Botswana 1
BY - Bielorussia 1
CR - Costa Rica 1
DZ - Algeria 1
ET - Etiopia 1
GA - Gabon 1
GD - Grenada 1
GE - Georgia 1
GY - Guiana 1
IS - Islanda 1
JO - Giordania 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LC - Santa Lucia 1
LU - Lussemburgo 1
MS - Montserrat 1
NE - Niger 1
Totale 21.524
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Città #
Southend 1.517
Dallas 1.378
Fairfield 960
Dublin 943
Ashburn 775
Singapore 635
Chandler 542
Woodbridge 457
Moscow 456
Santa Clara 441
Seattle 407
Beijing 387
Houston 370
Jacksonville 360
Wilmington 356
Ann Arbor 344
Cambridge 324
Hong Kong 287
Siena 263
Munich 234
Menlo Park 174
Hefei 173
Seoul 173
Princeton 142
Helsinki 136
Los Angeles 125
Nanjing 122
Milan 120
New York 114
Florence 81
Boardman 75
Shanghai 60
Buffalo 57
Rome 57
São Paulo 55
Dearborn 54
Nanchang 51
San Diego 51
San Mateo 44
The Dalles 44
Izmir 43
Brussels 42
Turku 42
Ho Chi Minh City 37
Lancaster 37
Málaga 36
Warsaw 36
Council Bluffs 34
Columbus 33
Dong Ket 33
Nuremberg 31
London 30
Tokyo 26
Brescia 25
Hanoi 24
Washington 24
Chicago 23
Redondo Beach 23
Shenyang 23
Brno 22
Hebei 22
Tianjin 22
Abidjan 21
Toronto 21
Bengaluru 20
Denver 20
Rio de Janeiro 20
Stockholm 20
Düsseldorf 19
Phoenix 19
Jiaxing 18
Norwalk 18
Waanrode 18
Jinan 17
Guangzhou 16
Ningbo 16
Orem 16
Bologna 15
Changsha 15
Lappeenranta 15
Lauterbourg 15
Padova 15
Berlin 14
Boston 14
Brooklyn 14
Chennai 14
Frankfurt am Main 14
Maastricht 14
San Francisco 14
Zhengzhou 14
Johannesburg 13
Montreal 13
Portsmouth 13
Atlanta 12
Brasília 12
Kunming 12
Hangzhou 11
Mexico City 11
Redwood City 11
Taizhou 11
Totale 14.597
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Nome #
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 459
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 434
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 395
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 358
Evidence of predisposing epimutation in retinoblastoma 352
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 328
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 326
An explainable model of host genetic interactions linked to COVID-19 severity 324
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 313
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 311
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA. 310
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 301
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 298
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 296
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 291
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 289
Genomic differences between retinoma and retinoblastoma 283
Alport syndrome: impact of digenic inheritance in patients management 281
Visual impairment in FOXG1-mutated individuals and mice 278
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 275
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 275
Pathogen-sugar interactions revealed by universal saturation transfer analysis 269
Evidence of digenic inheritance in Alport syndrome 267
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 256
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 254
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 251
Private inherited microdeletion/microduplications: implications in clinical practice 250
Advances in Alport syndrome diagnosis using next-generation sequencing 245
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 243
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 238
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 238
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 236
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 232
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 232
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 231
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 227
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 225
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 225
Non-collagen genes role in digenic Alport syndrome 223
Investigation of modifier genes within copy number variations in Rett syndrome 218
Exploiting the potential of next-generation sequencing in genomic medicine 214
X-linked mental retardation: a diagnostic, clinical and molecular update 214
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 212
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 212
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 206
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 202
Il gene optineurina (OPTN) non è implicato nel glaucoma primario ad angolo aperto 199
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 198
iPS cells to model CDKL5-related disorders 197
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 196
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 192
Italian Rett database and biobank 189
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 188
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 186
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report 185
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 184
null 182
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case 179
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases 179
Analysis of optineurin gene in italian primary open angle glaucoma 178
Vav1 haploinsufficiency in a common variable immunodeficiency patient with defective T-cell function. 177
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 176
Rett syndrome: the complex nature of a monogenic disease 172
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria 169
The XLMR gene ACSL4 plays a role in dendritic spine architecture 168
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 166
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism 166
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 165
The Italian XLMR bank: a clinical and molecular database 161
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 160
Preserved speech variant of the Rett syndrome: clinical and molecular study in a patient. 159
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 159
FOXG1 is responsible for the congenital variant of Rett syndrome. 155
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 153
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome 153
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma 152
Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma 151
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease 148
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit. 147
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. 146
New candidates for autism/intellectual disability identified by whole-exome sequencing 143
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 142
Natural history of KBG syndrome in a large European cohort 142
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 139
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 137
null 133
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 133
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 132
La sindrome di Rett e le varianti fenotipiche: dalla clinica alla genetica. 128
MECP2 deletions and genotype-phenotype correlation in Rett syndrome 127
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant 125
null 123
Identification of a novel pathogenic variant in the NAGLU gene in a child with neurodevelopmental delay 122
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 120
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder 119
Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder 119
Evaluation of optinuerin gene mutations in the common high-tension form of primary open angle glaucoma 117
Spondyloocular Syndrome: a novel XYLT2 variant with description of the neonatal phenotype 117
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 114
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 114
Totale 20.978
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Categoria #
all - tutte 68.427
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 68.427
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.262 0 0 0 0 0 151 107 244 203 269 162 126
2021/20221.315 96 183 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
2025/20265.720 589 1.184 1.110 1.106 1.695 36 0 0 0 0 0 0
Totale 21.818