IRIS
MELONI, ILARIA
 Distribuzione geografica
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Continente #
NA - Nord America 10.435
EU - Europa 9.078
AS - Asia 4.407
SA - Sud America 760
AF - Africa 254
OC - Oceania 43
Continente sconosciuto - Info sul continente non disponibili 5
Totale 24.982
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Nazione #
US - Stati Uniti d'America 10.282
IT - Italia 1.921
RU - Federazione Russa 1.838
GB - Regno Unito 1.439
CN - Cina 1.381
SG - Singapore 1.296
IE - Irlanda 916
DE - Germania 740
BR - Brasile 622
VN - Vietnam 495
SE - Svezia 485
FR - Francia 464
UA - Ucraina 423
HK - Hong Kong 390
FI - Finlandia 317
KR - Corea 212
NL - Olanda 172
BD - Bangladesh 160
IN - India 131
ZA - Sudafrica 129
CA - Canada 83
ES - Italia 68
PL - Polonia 59
TR - Turchia 57
BE - Belgio 45
AR - Argentina 44
AT - Austria 43
MX - Messico 40
AU - Australia 39
JP - Giappone 39
CZ - Repubblica Ceca 30
IQ - Iraq 29
NG - Nigeria 28
CI - Costa d'Avorio 27
CH - Svizzera 26
IR - Iran 25
ID - Indonesia 22
PK - Pakistan 22
SA - Arabia Saudita 21
EC - Ecuador 20
CO - Colombia 18
CL - Cile 17
UZ - Uzbekistan 17
KE - Kenya 14
EG - Egitto 13
MA - Marocco 13
TN - Tunisia 13
VE - Venezuela 13
LT - Lituania 12
GR - Grecia 11
AE - Emirati Arabi Uniti 10
RO - Romania 10
BG - Bulgaria 9
KZ - Kazakistan 9
MY - Malesia 9
PE - Perù 9
PY - Paraguay 9
AZ - Azerbaigian 7
IL - Israele 7
PH - Filippine 7
CR - Costa Rica 6
CY - Cipro 6
HU - Ungheria 6
JO - Giordania 6
LB - Libano 6
TW - Taiwan 6
DK - Danimarca 5
EU - Europa 5
GE - Georgia 5
HN - Honduras 5
HR - Croazia 5
MK - Macedonia 5
OM - Oman 5
PT - Portogallo 5
UY - Uruguay 5
AL - Albania 4
BY - Bielorussia 4
EE - Estonia 4
KG - Kirghizistan 4
LV - Lettonia 4
PA - Panama 4
SN - Senegal 4
AO - Angola 3
BO - Bolivia 3
DO - Repubblica Dominicana 3
DZ - Algeria 3
LK - Sri Lanka 3
NZ - Nuova Zelanda 3
PR - Porto Rico 3
QA - Qatar 3
TT - Trinidad e Tobago 3
BB - Barbados 2
BH - Bahrain 2
BW - Botswana 2
LU - Lussemburgo 2
MM - Myanmar 2
NO - Norvegia 2
SK - Slovacchia (Repubblica Slovacca) 2
SY - Repubblica araba siriana 2
TH - Thailandia 2
Totale 24.961
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Città #
Dallas 1.922
Southend 1.212
Dublin 900
Fairfield 884
Ashburn 849
Singapore 816
Chandler 541
Moscow 540
Santa Clara 449
San Jose 390
Woodbridge 389
Hong Kong 367
Seattle 360
Houston 351
Wilmington 347
Jacksonville 325
Beijing 319
Ann Arbor 310
Siena 306
Cambridge 286
Hefei 269
Milan 234
Munich 228
Los Angeles 210
Seoul 208
Helsinki 179
Council Bluffs 158
Ho Chi Minh City 140
Menlo Park 139
New York 139
Princeton 138
The Dalles 137
Johannesburg 119
Hanoi 116
Lauterbourg 115
Florence 110
Nanjing 98
Rome 96
Boardman 73
Buffalo 64
San Mateo 55
São Paulo 55
San Diego 48
Shanghai 48
Orem 45
London 44
Nanchang 44
Turku 43
Warsaw 43
Chicago 42
Dong Ket 41
Nuremberg 40
Frankfurt am Main 34
Lancaster 34
Tokyo 34
Toronto 34
Brescia 33
Columbus 33
Bengaluru 32
Brussels 32
Málaga 31
Abidjan 27
Bologna 27
Washington 27
Abuja 26
Denver 26
Düsseldorf 26
Paris 26
Rio de Janeiro 26
Phoenix 25
Hebei 24
Izmir 24
Naples 24
Shenyang 24
Brooklyn 23
Tianjin 23
Da Nang 22
Redondo Beach 22
Chennai 21
Haiphong 21
Montreal 21
Atlanta 20
Boston 20
Guangzhou 20
Stockholm 20
Amsterdam 19
Vienna 19
Dearborn 18
Jiaxing 18
Lappeenranta 18
Norwalk 18
Fremont 17
San Francisco 17
Jinan 16
Aachen 15
Berlin 15
Brasília 15
Changsha 15
Kunming 15
Mexico City 15
Totale 16.493
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Nome #
A first update on mapping the human genetic architecture of COVID-19 582
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 577
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 515
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 504
Genetic mechanisms of critical illness in COVID-19 430
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 418
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 395
An explainable model of host genetic interactions linked to COVID-19 severity 371
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 356
Pathogen-sugar interactions revealed by universal saturation transfer analysis 355
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 332
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 330
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 327
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 325
null 320
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder 317
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 314
Epilepsy in Rett syndrome - Lessons from the Rett networked database 308
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 306
Genomic differences between retinoma and retinoblastoma 304
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 302
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 297
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 294
Visual impairment in FOXG1-mutated individuals and mice 294
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 292
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 291
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 286
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 285
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 284
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 278
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 273
Private inherited microdeletion/microduplications: implications in clinical practice 273
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 272
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 264
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 258
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 258
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 255
AAV-mediated FOXG1 gene editing in human Rett primary cells 251
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 250
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks 249
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 247
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 246
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 237
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 237
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 235
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 233
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 232
Huntington's disease gene expansion associates with early onset nonprogressive chorea 231
X-linked mental retardation: a diagnostic, clinical and molecular update 228
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3 226
Analysis of Optineurin gene in Italian Normal Tension Glaucoma. 224
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases 221
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 220
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 217
Il gene optineurina (OPTN) non è implicato nel glaucoma primario ad angolo aperto 216
Italian Rett database and biobank 215
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 214
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR) 210
iPS cells to model CDKL5-related disorders 210
Preserved speech variant is allelic of classic Rett syndrome 210
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 209
“Diagnostic and therapeutic tools for X-linked mental retardation syndrome “ 206
WES profiling of COVID-19 205
Whole-genome sequencing reveals host factors underlying critical COVID-19 201
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families 197
Rett syndrome: the complex nature of a monogenic disease 195
Clinical and molecular characterization of COVID-19 hospitalized patients 194
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 192
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 191
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 187
Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. 185
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 182
The XLMR gene ACSL4 plays a role in dendritic spine architecture 180
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative 179
Optic Disc Drusen, Angioid Streaks and Mottled Fundus in various combinations in a Sicilian Family 178
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism 176
Is Rett syndrome a loss-of-imprinting disorder? 175
FOXG1 is responsible for the congenital variant of Rett syndrome. 174
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 172
Pseudoxanthoma elasticum: point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11 171
The Italian XLMR bank: a clinical and molecular database 168
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. 168
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 167
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 165
Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells 163
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 163
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 161
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit. 161
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 159
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 158
Preserved Speech Variants of the Rett Syndrome: Molecular and Clinical Analysis 157
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. 156
Study of MECP2 gene in Rett syndrome variants and autistic girls 148
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey 147
A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profiling 147
Lymphoblastoin cell lines of Rett sindrome patients exposed to exidative-stress-induced apoptosis 143
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 139
Mosaicism in Alport syndrome and genetic counseling. 135
null 133
Totale 24.662
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Categoria #
all - tutte 77.689
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 77.689
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021139 0 0 0 0 0 0 0 0 0 0 0 139
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
2025/20269.720 609 1.462 1.446 1.171 1.800 369 1.077 319 409 519 312 227
Totale 25.355