IRIS
ARIANI, FRANCESCA
 Distribuzione geografica
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Continente #
NA - Nord America 10.319
EU - Europa 9.427
AS - Asia 4.272
SA - Sud America 684
AF - Africa 238
OC - Oceania 28
Continente sconosciuto - Info sul continente non disponibili 3
Totale 24.971
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Nazione #
US - Stati Uniti d'America 10.149
IT - Italia 2.033
RU - Federazione Russa 1.781
GB - Regno Unito 1.756
CN - Cina 1.381
SG - Singapore 1.232
IE - Irlanda 962
DE - Germania 709
BR - Brasile 554
VN - Vietnam 537
SE - Svezia 509
UA - Ucraina 451
FR - Francia 445
HK - Hong Kong 365
FI - Finlandia 303
KR - Corea 176
NL - Olanda 141
BD - Bangladesh 139
ZA - Sudafrica 131
IN - India 120
CA - Canada 98
ES - Italia 76
TR - Turchia 73
BE - Belgio 61
PL - Polonia 53
AR - Argentina 42
MX - Messico 41
CZ - Repubblica Ceca 38
JP - Giappone 38
IQ - Iraq 35
EC - Ecuador 26
AT - Austria 22
CI - Costa d'Avorio 22
IR - Iran 22
AU - Australia 21
NG - Nigeria 21
PK - Pakistan 21
SA - Arabia Saudita 20
ID - Indonesia 18
CO - Colombia 17
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
MY - Malesia 7
JO - Giordania 6
KG - Kirghizistan 6
KZ - Kazakistan 6
AL - Albania 5
AZ - Azerbaigian 5
BB - Barbados 5
BG - Bulgaria 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
ET - Etiopia 4
HN - Honduras 4
HU - Ungheria 4
IL - Israele 4
MD - Moldavia 4
OM - Oman 4
PR - Porto Rico 4
SK - Slovacchia (Repubblica Slovacca) 4
BO - Bolivia 3
BW - Botswana 3
CY - Cipro 3
GT - Guatemala 3
HR - Croazia 3
LB - Libano 3
LV - Lettonia 3
PT - Portogallo 3
RO - Romania 3
RS - Serbia 3
BY - Bielorussia 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
EU - Europa 2
GE - Georgia 2
JM - Giamaica 2
KH - Cambogia 2
KW - Kuwait 2
LK - Sri Lanka 2
PS - Palestinian Territory 2
TM - Turkmenistan 2
UY - Uruguay 2
Totale 24.949
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Città #
Southend 1.517
Dallas 1.392
Fairfield 960
Dublin 947
Ashburn 881
Singapore 737
Chandler 543
Santa Clara 473
Woodbridge 458
Moscow 456
Milan 412
Seattle 412
San Jose 390
Beijing 389
Houston 376
Jacksonville 360
Wilmington 356
Hong Kong 349
Ann Arbor 344
Cambridge 324
Siena 263
Munich 234
Hefei 213
Council Bluffs 183
Los Angeles 183
Seoul 175
Menlo Park 174
Helsinki 160
Ho Chi Minh City 155
Rome 150
New York 147
Princeton 142
Johannesburg 125
Nanjing 122
Hanoi 116
The Dalles 108
Lauterbourg 104
Florence 97
Boardman 76
Buffalo 67
Shanghai 65
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
Chicago 37
Columbus 37
Lancaster 37
Málaga 36
Dong Ket 33
Tokyo 33
Nuremberg 32
Brescia 31
Toronto 30
Frankfurt am Main 28
Haiphong 28
Chennai 26
Montreal 26
Naples 26
Washington 25
Rio de Janeiro 24
Brno 23
Denver 23
Redondo Beach 23
Shenyang 23
Stockholm 23
Turin 23
Abidjan 22
Hebei 22
Phoenix 22
Tianjin 22
Abuja 21
Bengaluru 21
Da Nang 20
Düsseldorf 19
Norwalk 19
Bologna 18
Jiaxing 18
Waanrode 18
Amsterdam 17
Figino 17
Jinan 17
Lappeenranta 17
Paris 17
Verona 17
Atlanta 16
Brooklyn 16
Guangzhou 16
Manchester 16
Mexico City 16
Ningbo 16
Boston 15
Changsha 15
Totale 16.753
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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 523
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 466
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 426
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 409
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 396
Evidence of predisposing epimutation in retinoblastoma 385
An explainable model of host genetic interactions linked to COVID-19 severity 375
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 373
Pathogen-sugar interactions revealed by universal saturation transfer analysis 363
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 354
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 354
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 342
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA. 339
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 335
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 333
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 333
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 332
Alport syndrome: impact of digenic inheritance in patients management 322
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 320
Genomic differences between retinoma and retinoblastoma 318
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 314
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 308
Evidence of digenic inheritance in Alport syndrome 306
Visual impairment in FOXG1-mutated individuals and mice 300
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 297
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 297
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 287
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 281
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 279
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 276
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 276
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 275
Private inherited microdeletion/microduplications: implications in clinical practice 274
Advances in Alport syndrome diagnosis using next-generation sequencing 268
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 268
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 257
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 254
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 251
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 251
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 247
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 246
Non-collagen genes role in digenic Alport syndrome 246
Investigation of modifier genes within copy number variations in Rett syndrome 240
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 240
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 240
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 237
X-linked mental retardation: a diagnostic, clinical and molecular update 235
Exploiting the potential of next-generation sequencing in genomic medicine 233
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 228
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 226
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 224
Italian Rett database and biobank 222
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 221
Il gene optineurina (OPTN) non è implicato nel glaucoma primario ad angolo aperto 216
iPS cells to model CDKL5-related disorders 214
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report 209
Vav1 haploinsufficiency in a common variable immunodeficiency patient with defective T-cell function. 204
Rett syndrome: the complex nature of a monogenic disease 201
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases 201
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant 199
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria 198
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 198
Analysis of optineurin gene in italian primary open angle glaucoma 198
New candidates for autism/intellectual disability identified by whole-exome sequencing 197
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case 194
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 189
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 189
Natural history of KBG syndrome in a large European cohort 186
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 186
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome 183
null 182
The XLMR gene ACSL4 plays a role in dendritic spine architecture 180
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism 178
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 177
Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder 177
Preserved speech variant of the Rett syndrome: clinical and molecular study in a patient. 175
FOXG1 is responsible for the congenital variant of Rett syndrome. 175
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 171
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder 169
The Italian XLMR bank: a clinical and molecular database 169
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 168
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 168
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 167
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease 166
Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma 166
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. 165
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 164
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit. 163
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 162
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma 160
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 158
Identification of a novel pathogenic variant in the NAGLU gene in a child with neurodevelopmental delay 157
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 156
La sindrome di Rett e le varianti fenotipiche: dalla clinica alla genetica. 156
MECP2 deletions and genotype-phenotype correlation in Rett syndrome 144
Spondyloocular Syndrome: a novel XYLT2 variant with description of the neonatal phenotype 139
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 138
Evaluation of optinuerin gene mutations in the common high-tension form of primary open angle glaucoma 136
null 133
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls 128
Totale 24.211
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Categoria #
all - tutte 77.272
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 77.272
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20268.989 589 1.184 1.110 1.106 1.695 308 1.014 280 317 460 280 646
2026/2027165 165 0 0 0 0 0 0 0 0 0 0 0
Totale 25.252