IRIS
MELONI, ILARIA
 Distribuzione geografica
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Continente #
NA - Nord America 9.202
EU - Europa 8.461
AS - Asia 3.406
SA - Sud America 626
AF - Africa 83
OC - Oceania 18
Continente sconosciuto - Info sul continente non disponibili 5
Totale 21.801
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Nazione #
US - Stati Uniti d'America 9.104
RU - Federazione Russa 1.835
IT - Italia 1.649
GB - Regno Unito 1.399
CN - Cina 1.252
SG - Singapore 1.112
IE - Irlanda 913
DE - Germania 714
BR - Brasile 537
SE - Svezia 484
UA - Ucraina 414
FR - Francia 330
HK - Hong Kong 296
FI - Finlandia 290
KR - Corea 208
VN - Vietnam 176
NL - Olanda 133
IN - India 94
ES - Italia 59
CA - Canada 49
TR - Turchia 49
PL - Polonia 47
BE - Belgio 44
AT - Austria 39
AR - Argentina 33
MX - Messico 33
BD - Bangladesh 32
CZ - Repubblica Ceca 29
JP - Giappone 29
CI - Costa d'Avorio 26
ZA - Sudafrica 25
IR - Iran 24
CH - Svizzera 16
AU - Australia 14
EC - Ecuador 14
CL - Cile 13
ID - Indonesia 13
IQ - Iraq 13
SA - Arabia Saudita 12
PK - Pakistan 11
MA - Marocco 10
UZ - Uzbekistan 10
LT - Lituania 9
AE - Emirati Arabi Uniti 8
BG - Bulgaria 8
CO - Colombia 8
GR - Grecia 8
PE - Perù 8
AZ - Azerbaigian 6
IL - Israele 6
KZ - Kazakistan 6
TN - Tunisia 6
TW - Taiwan 6
EU - Europa 5
PH - Filippine 5
PY - Paraguay 5
RO - Romania 5
CY - Cipro 4
DK - Danimarca 4
EE - Estonia 4
EG - Egitto 4
LV - Lettonia 4
MK - Macedonia 4
MY - Malesia 4
PT - Portogallo 4
UY - Uruguay 4
BY - Bielorussia 3
CR - Costa Rica 3
GE - Georgia 3
HN - Honduras 3
KE - Kenya 3
KG - Kirghizistan 3
LK - Sri Lanka 3
NZ - Nuova Zelanda 3
OM - Oman 3
QA - Qatar 3
SN - Senegal 3
VE - Venezuela 3
AL - Albania 2
DO - Repubblica Dominicana 2
HR - Croazia 2
HU - Ungheria 2
JO - Giordania 2
LU - Lussemburgo 2
PA - Panama 2
SK - Slovacchia (Repubblica Slovacca) 2
TT - Trinidad e Tobago 2
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BH - Bahrain 1
BO - Bolivia 1
BW - Botswana 1
DZ - Algeria 1
ET - Etiopia 1
GD - Grenada 1
GT - Guatemala 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
Totale 21.786
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Città #
Dallas 1.913
Southend 1.212
Dublin 897
Fairfield 883
Ashburn 754
Singapore 724
Chandler 540
Moscow 540
Santa Clara 431
Woodbridge 389
Seattle 357
Wilmington 347
Houston 345
Jacksonville 325
Beijing 315
Ann Arbor 310
Siena 306
Hong Kong 291
Cambridge 286
Munich 228
Hefei 222
Seoul 205
Milan 194
Helsinki 153
Menlo Park 139
Princeton 138
Los Angeles 130
Florence 109
New York 104
Nanjing 98
Rome 81
Boardman 69
San Mateo 55
Buffalo 53
The Dalles 52
São Paulo 51
Ho Chi Minh City 48
San Diego 48
Nanchang 44
Shanghai 44
Turku 43
Council Bluffs 41
Dong Ket 41
Nuremberg 40
Warsaw 35
Hanoi 34
Lancaster 34
London 34
Bengaluru 32
Brussels 32
Chicago 32
Brescia 31
Columbus 31
Málaga 31
Abidjan 26
Düsseldorf 26
Tokyo 26
Washington 25
Denver 24
Hebei 24
Shenyang 24
Izmir 23
Tianjin 23
Redondo Beach 22
Toronto 22
Lauterbourg 21
Phoenix 21
Guangzhou 20
Bologna 19
Brooklyn 19
Rio de Janeiro 19
Stockholm 19
Boston 18
Dearborn 18
Jiaxing 18
Norwalk 18
Fremont 17
Lappeenranta 17
Atlanta 16
Jinan 16
Vienna 16
Aachen 15
Berlin 15
Changsha 15
Frankfurt am Main 15
Johannesburg 15
Kunming 15
Paris 15
Brasília 14
Maastricht 14
Naples 14
Ningbo 14
Brno 13
Chennai 13
Empoli 13
Hangzhou 13
Portsmouth 13
San Francisco 13
Falls Church 12
Waanrode 12
Totale 14.741
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Nome #
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 544
A first update on mapping the human genetic architecture of COVID-19 537
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 459
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 454
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 358
Genetic mechanisms of critical illness in COVID-19 331
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 328
An explainable model of host genetic interactions linked to COVID-19 severity 324
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 313
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 303
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 298
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder 292
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
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 286
Genomic differences between retinoma and retinoblastoma 283
Epilepsy in Rett syndrome - Lessons from the Rett networked database 279
Visual impairment in FOXG1-mutated individuals and mice 278
Pathogen-sugar interactions revealed by universal saturation transfer analysis 269
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 268
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 266
Mapping the human genetic architecture of COVID-19 260
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 257
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
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 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
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 236
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 236
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 234
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks 233
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
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 223
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 216
X-linked mental retardation: a diagnostic, clinical and molecular update 214
Huntington's disease gene expansion associates with early onset nonprogressive chorea 213
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 213
AAV-mediated FOXG1 gene editing in human Rett primary cells 212
Analysis of Optineurin gene in Italian Normal Tension Glaucoma. 209
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 207
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 206
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 204
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases 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
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 194
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR) 193
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 191
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 191
“Diagnostic and therapeutic tools for X-linked mental retardation syndrome “ 190
Italian Rett database and biobank 189
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
WES profiling of COVID-19 182
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 179
Preserved speech variant is allelic of classic Rett syndrome 178
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 176
Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. 172
Rett syndrome: the complex nature of a monogenic disease 172
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
Clinical and molecular characterization of COVID-19 hospitalized patients 166
Optic Disc Drusen, Angioid Streaks and Mottled Fundus in various combinations in a Sicilian Family 165
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 165
Is Rett syndrome a loss-of-imprinting disorder? 165
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families 163
The Italian XLMR bank: a clinical and molecular database 161
Pseudoxanthoma elasticum: point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11 161
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 160
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 154
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 153
Preserved Speech Variants of the Rett Syndrome: Molecular and Clinical Analysis 151
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. 150
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit. 147
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region 147
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative 146
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. 146
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3 145
Whole-genome sequencing reveals host factors underlying critical COVID-19 143
An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2-Related Neural Disorder: A Possible New Cell-Based Disease Model 142
Lymphoblastoin cell lines of Rett sindrome patients exposed to exidative-stress-induced apoptosis 138
null 133
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 133
Study of MECP2 gene in Rett syndrome variants and autistic girls 129
Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells 128
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 127
Mosaicism in Alport syndrome and genetic counseling. 127
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 126
null 123
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey 122
Evaluation of optinuerin gene mutations in the common high-tension form of primary open angle glaucoma 117
Totale 21.617
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Categoria #
all - tutte 69.539
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 69.539
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.207 0 0 0 0 0 166 88 214 201 221 178 139
2021/20221.491 151 169 86 118 86 50 74 58 69 146 177 307
2022/20232.088 123 182 238 259 195 374 145 176 165 73 96 62
2023/20241.701 91 58 190 109 76 406 497 64 15 41 44 110
2024/20253.894 139 174 410 258 463 257 291 240 284 171 368 839
2025/20266.539 609 1.462 1.446 1.171 1.800 51 0 0 0 0 0 0
Totale 22.174