IRIS
ARIANI, FRANCESCA
 Distribuzione geografica
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Continente #
NA - Nord America 9.992
EU - Europa 8.884
AS - Asia 4.193
SA - Sud America 681
AF - Africa 238
OC - Oceania 28
Continente sconosciuto - Info sul continente non disponibili 3
Totale 24.019
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Nazione #
US - Stati Uniti d'America 9.841
RU - Federazione Russa 1.781
GB - Regno Unito 1.756
IT - Italia 1.503
CN - Cina 1.378
SG - Singapore 1.229
IE - Irlanda 962
DE - Germania 709
BR - Brasile 553
VN - Vietnam 536
SE - Svezia 509
UA - Ucraina 451
FR - Francia 441
HK - Hong Kong 362
FI - Finlandia 303
KR - Corea 176
NL - Olanda 137
ZA - Sudafrica 131
IN - India 116
CA - Canada 86
BD - Bangladesh 75
ES - Italia 74
TR - Turchia 73
BE - Belgio 61
PL - Polonia 53
AR - Argentina 41
MX - Messico 40
JP - Giappone 38
CZ - Repubblica Ceca 37
IQ - Iraq 35
EC - Ecuador 26
CI - Costa d'Avorio 22
IR - Iran 22
AT - Austria 21
AU - Australia 21
NG - Nigeria 21
PK - Pakistan 21
SA - Arabia Saudita 20
ID - Indonesia 18
CO - Colombia 16
LT - Lituania 15
CL - Cile 14
AE - Emirati Arabi Uniti 12
KE - Kenya 12
UZ - Uzbekistan 12
TN - Tunisia 11
VE - Venezuela 11
MA - Marocco 10
CH - Svizzera 9
GR - Grecia 9
PY - Paraguay 9
EG - Egitto 8
DK - Danimarca 7
JO - Giordania 6
KG - Kirghizistan 6
KZ - Kazakistan 6
MY - Malesia 6
AL - Albania 5
AZ - Azerbaigian 5
BB - Barbados 5
NP - Nepal 5
NZ - Nuova Zelanda 5
PA - Panama 5
PE - Perù 5
PH - Filippine 5
SN - Senegal 5
AO - Angola 4
BA - Bosnia-Erzegovina 4
BG - Bulgaria 4
ET - Etiopia 4
HU - Ungheria 4
IL - Israele 4
MD - Moldavia 4
OM - Oman 4
SK - Slovacchia (Repubblica Slovacca) 4
BO - Bolivia 3
BW - Botswana 3
CY - Cipro 3
HN - Honduras 3
HR - Croazia 3
LB - Libano 3
LV - Lettonia 3
PT - Portogallo 3
RO - Romania 3
RS - Serbia 3
BY - Bielorussia 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
EU - Europa 2
GE - Georgia 2
GT - Guatemala 2
JM - Giamaica 2
KH - Cambogia 2
KW - Kuwait 2
LK - Sri Lanka 2
PR - Porto Rico 2
PS - Palestinian Territory 2
TM - Turkmenistan 2
UY - Uruguay 2
BF - Burkina Faso 1
Totale 23.998
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Città #
Southend 1.517
Dallas 1.387
Fairfield 960
Dublin 947
Ashburn 837
Singapore 735
Chandler 543
Woodbridge 457
Moscow 456
Santa Clara 446
Seattle 411
Beijing 389
Houston 376
Jacksonville 360
Wilmington 356
Hong Kong 346
Ann Arbor 344
Cambridge 324
San Jose 324
Siena 263
Munich 234
Hefei 213
Los Angeles 176
Seoul 175
Menlo Park 174
Helsinki 160
Ho Chi Minh City 154
Milan 145
Princeton 142
New York 138
Johannesburg 125
Nanjing 122
Council Bluffs 121
Hanoi 116
The Dalles 107
Lauterbourg 104
Florence 86
Boardman 75
Rome 67
Shanghai 64
Buffalo 63
São Paulo 60
Dearborn 54
San Diego 53
Nanchang 51
Orem 49
San Mateo 44
Izmir 43
Warsaw 43
Brussels 42
Turku 42
London 40
Lancaster 37
Málaga 36
Columbus 34
Chicago 33
Dong Ket 33
Tokyo 33
Nuremberg 32
Frankfurt am Main 28
Haiphong 28
Brescia 27
Chennai 26
Toronto 26
Washington 25
Montreal 24
Rio de Janeiro 24
Redondo Beach 23
Shenyang 23
Stockholm 23
Abidjan 22
Brno 22
Denver 22
Hebei 22
Phoenix 22
Tianjin 22
Abuja 21
Bengaluru 21
Da Nang 20
Düsseldorf 19
Jiaxing 18
Norwalk 18
Waanrode 18
Amsterdam 17
Bologna 17
Jinan 17
Lappeenranta 17
Paris 17
Atlanta 16
Brooklyn 16
Guangzhou 16
Manchester 16
Ningbo 16
Boston 15
Changsha 15
Mexico City 15
Padova 15
San Francisco 15
Berlin 14
Maastricht 14
Totale 16.110
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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 508
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 457
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 407
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 394
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 388
Evidence of predisposing epimutation in retinoblastoma 380
An explainable model of host genetic interactions linked to COVID-19 severity 366
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 344
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 344
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 342
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA. 332
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 331
Pathogen-sugar interactions revealed by universal saturation transfer analysis 329
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 329
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 328
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 326
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 321
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 310
Alport syndrome: impact of digenic inheritance in patients management 307
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 305
Evidence of digenic inheritance in Alport syndrome 302
Genomic differences between retinoma and retinoblastoma 300
Visual impairment in FOXG1-mutated individuals and mice 294
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 293
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 289
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 279
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 277
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 276
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 274
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 272
Private inherited microdeletion/microduplications: implications in clinical practice 271
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 270
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 262
Advances in Alport syndrome diagnosis using next-generation sequencing 261
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 256
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 248
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 244
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 242
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 237
Non-collagen genes role in digenic Alport syndrome 235
Investigation of modifier genes within copy number variations in Rett syndrome 231
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 231
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 228
X-linked mental retardation: a diagnostic, clinical and molecular update 228
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 226
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 226
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 225
Exploiting the potential of next-generation sequencing in genomic medicine 223
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 219
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 219
Il gene optineurina (OPTN) non è implicato nel glaucoma primario ad angolo aperto 216
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 216
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 213
Italian Rett database and biobank 213
iPS cells to model CDKL5-related disorders 209
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report 204
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 197
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases 196
Analysis of optineurin gene in italian primary open angle glaucoma 195
Rett syndrome: the complex nature of a monogenic disease 193
Vav1 haploinsufficiency in a common variable immunodeficiency patient with defective T-cell function. 191
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case 190
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant 189
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 185
null 182
New candidates for autism/intellectual disability identified by whole-exome sequencing 182
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 182
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 181
The XLMR gene ACSL4 plays a role in dendritic spine architecture 178
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria 177
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism 176
Natural history of KBG syndrome in a large European cohort 173
FOXG1 is responsible for the congenital variant of Rett syndrome. 172
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome 172
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 170
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 169
The Italian XLMR bank: a clinical and molecular database 168
Preserved speech variant of the Rett syndrome: clinical and molecular study in a patient. 167
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit. 161
Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder 161
Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma 160
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease 159
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma 159
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 159
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 158
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 156
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 156
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. 156
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 155
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 155
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder 152
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 147
La sindrome di Rett e le varianti fenotipiche: dalla clinica alla genetica. 146
Identification of a novel pathogenic variant in the NAGLU gene in a child with neurodevelopmental delay 146
MECP2 deletions and genotype-phenotype correlation in Rett syndrome 144
Spondyloocular Syndrome: a novel XYLT2 variant with description of the neonatal phenotype 137
null 133
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 129
Evaluation of optinuerin gene mutations in the common high-tension form of primary open angle glaucoma 126
null 123
Totale 23.320
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Categoria #
all - tutte 74.283
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 74.283
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021288 0 0 0 0 0 0 0 0 0 0 162 126
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
2025/20268.202 589 1.184 1.110 1.106 1.695 308 1.014 280 317 460 139 0
Totale 24.300