IRIS
MELONI, ILARIA
 Distribuzione geografica
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Continente #
NA - Nord America 11.037
EU - Europa 9.614
AS - Asia 4.437
SA - Sud America 766
Continente sconosciuto - Info sul continente non disponibili 381
AF - Africa 254
OC - Oceania 43
Totale 26.532
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Nazione #
US - Stati Uniti d'America 10.859
IT - Italia 2.446
RU - Federazione Russa 1.838
GB - Regno Unito 1.440
CN - Cina 1.388
SG - Singapore 1.301
IE - Irlanda 916
DE - Germania 740
BR - Brasile 624
VN - Vietnam 497
SE - Svezia 491
FR - Francia 465
UA - Ucraina 423
HK - Hong Kong 396
FI - Finlandia 317
KR - Corea 212
NL - Olanda 172
BD - Bangladesh 165
IN - India 133
ZA - Sudafrica 129
CA - Canada 95
ES - Italia 68
PL - Polonia 59
TR - Turchia 57
AR - Argentina 45
BE - Belgio 45
AT - Austria 43
MX - Messico 41
AU - Australia 39
JP - Giappone 39
CZ - Repubblica Ceca 31
IQ - Iraq 29
NG - Nigeria 28
CH - Svizzera 27
CI - Costa d'Avorio 27
IR - Iran 25
ID - Indonesia 22
PK - Pakistan 22
EC - Ecuador 21
SA - Arabia Saudita 21
CO - Colombia 19
CL - Cile 18
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
CR - Costa Rica 8
PH - Filippine 8
AZ - Azerbaigian 7
CY - Cipro 7
IL - Israele 7
HU - Ungheria 6
JO - Giordania 6
LB - Libano 6
TT - Trinidad e Tobago 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
GT - Guatemala 3
LK - Sri Lanka 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
PR - Porto Rico 3
QA - Qatar 3
BB - Barbados 2
BH - Bahrain 2
BW - Botswana 2
JM - Giamaica 2
LA - Repubblica Popolare Democratica del Laos 2
LU - Lussemburgo 2
MM - Myanmar 2
Totale 26.128
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Città #
Dallas 1.934
Southend 1.212
Ashburn 923
Dublin 900
Fairfield 884
Singapore 818
Chandler 541
Moscow 540
Milan 523
Santa Clara 502
San Jose 449
Woodbridge 389
Seattle 374
Hong Kong 372
Houston 352
Wilmington 348
Jacksonville 326
Beijing 321
Ann Arbor 310
Siena 307
Cambridge 286
Hefei 269
Council Bluffs 262
Munich 228
Los Angeles 218
Seoul 208
Rome 195
Helsinki 179
New York 153
Ho Chi Minh City 142
Menlo Park 139
Princeton 138
The Dalles 138
Johannesburg 119
Hanoi 116
Lauterbourg 115
Florence 111
Nanjing 98
Boardman 73
Buffalo 65
San Mateo 55
São Paulo 55
Columbus 54
Shanghai 49
Figino 48
San Diego 48
Chicago 47
Orem 45
London 44
Nanchang 44
Turku 43
Warsaw 43
Dong Ket 41
Nuremberg 40
Brescia 35
Lancaster 35
Toronto 35
Frankfurt am Main 34
Phoenix 34
Tokyo 34
Bengaluru 32
Brussels 32
Bologna 31
Málaga 31
Naples 29
Abidjan 27
Boston 27
Paris 27
Washington 27
Abuja 26
Denver 26
Düsseldorf 26
Rio de Janeiro 26
Brooklyn 25
Hebei 24
Izmir 24
Shenyang 24
Turin 24
Tianjin 23
Da Nang 22
Montreal 22
Redondo Beach 22
Atlanta 21
Chennai 21
Haiphong 21
Guangzhou 20
Stockholm 20
Amsterdam 19
Vienna 19
Dearborn 18
Jiaxing 18
Lappeenranta 18
Norwalk 18
San Francisco 18
Fremont 17
Jinan 16
Mexico City 16
Aachen 15
Berlin 15
Brasília 15
Totale 17.342
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Nome #
A first update on mapping the human genetic architecture of COVID-19 601
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 592
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 534
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 508
Genetic mechanisms of critical illness in COVID-19 452
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 440
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 397
An explainable model of host genetic interactions linked to COVID-19 severity 386
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 382
Pathogen-sugar interactions revealed by universal saturation transfer analysis 373
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 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 345
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 341
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 336
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 335
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 334
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder 328
Mapping the human genetic architecture of COVID-19 325
Genomic differences between retinoma and retinoblastoma 320
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 319
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 319
Epilepsy in Rett syndrome - Lessons from the Rett networked database 315
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 313
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 309
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 302
Visual impairment in FOXG1-mutated individuals and mice 300
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 298
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 297
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males 296
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 291
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 284
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 281
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 279
Private inherited microdeletion/microduplications: implications in clinical practice 279
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 278
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 277
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 270
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 262
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 260
AAV-mediated FOXG1 gene editing in human Rett primary cells 257
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks 253
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 252
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases 251
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 251
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 248
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 247
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 243
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 242
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 242
Huntington's disease gene expansion associates with early onset nonprogressive chorea 240
X-linked mental retardation: a diagnostic, clinical and molecular update 240
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3 238
Analysis of Optineurin gene in Italian Normal Tension Glaucoma. 232
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 229
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 229
Preserved speech variant is allelic of classic Rett syndrome 229
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 228
Italian Rett database and biobank 226
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR) 222
iPS cells to model CDKL5-related disorders 219
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 219
Whole-genome sequencing reveals host factors underlying critical COVID-19 217
Il gene optineurina (OPTN) non è implicato nel glaucoma primario ad angolo aperto 217
“Diagnostic and therapeutic tools for X-linked mental retardation syndrome “ 215
WES profiling of COVID-19 215
Clinical and molecular characterization of COVID-19 hospitalized patients 206
Rett syndrome: the complex nature of a monogenic disease 203
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 202
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 201
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families 200
Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3 197
Optic Disc Drusen, Angioid Streaks and Mottled Fundus in various combinations in a Sicilian Family 192
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 191
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 190
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative 188
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. 188
Is Rett syndrome a loss-of-imprinting disorder? 186
The XLMR gene ACSL4 plays a role in dendritic spine architecture 182
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism 181
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 179
Pseudoxanthoma elasticum: point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11 179
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 179
Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells 178
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 178
FOXG1 is responsible for the congenital variant of Rett syndrome. 178
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 174
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 172
The Italian XLMR bank: a clinical and molecular database 172
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 172
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 169
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. 166
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit. 165
Preserved Speech Variants of the Rett Syndrome: Molecular and Clinical Analysis 164
A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profiling 158
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey 157
Lymphoblastoin cell lines of Rett sindrome patients exposed to exidative-stress-induced apoptosis 155
Study of MECP2 gene in Rett syndrome variants and autistic girls 152
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 151
Mosaicism in Alport syndrome and genetic counseling 145
The phenomenon of multidrug resistance in glioblastomas 143
Totale 25.807
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Categoria #
all - tutte 81.189
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 81.189
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.340 0 169 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
2025/202610.227 609 1.462 1.446 1.171 1.800 369 1.077 319 409 514 308 743
2026/2027670 438 232 0 0 0 0 0 0 0 0 0 0
Totale 26.532