IRIS
MELONI, ILARIA
 Distribuzione geografica
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Continente #
NA - Nord America 10.110
EU - Europa 8.964
AS - Asia 4.292
SA - Sud America 758
AF - Africa 254
OC - Oceania 43
Continente sconosciuto - Info sul continente non disponibili 5
Totale 24.426
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Nazione #
US - Stati Uniti d'America 9.975
RU - Federazione Russa 1.838
IT - Italia 1.831
GB - Regno Unito 1.433
CN - Cina 1.376
SG - Singapore 1.291
IE - Irlanda 916
DE - Germania 739
BR - Brasile 621
VN - Vietnam 495
SE - Svezia 485
FR - Francia 460
UA - Ucraina 423
HK - Hong Kong 386
FI - Finlandia 317
KR - Corea 211
NL - Olanda 164
IN - India 130
ZA - Sudafrica 129
CA - Canada 71
ES - Italia 66
BD - Bangladesh 62
PL - Polonia 59
TR - Turchia 56
BE - Belgio 45
AR - Argentina 43
AT - Austria 42
AU - Australia 39
JP - Giappone 39
MX - Messico 39
CZ - Repubblica Ceca 29
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
KZ - Kazakistan 9
MY - Malesia 9
PE - Perù 9
PY - Paraguay 9
BG - Bulgaria 8
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
HR - Croazia 5
MK - Macedonia 5
OM - Oman 5
PT - Portogallo 5
UY - Uruguay 5
AL - Albania 4
BY - Bielorussia 4
EE - Estonia 4
HN - Honduras 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
QA - Qatar 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
TT - Trinidad e Tobago 2
AM - Armenia 1
Totale 24.406
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Città #
Dallas 1.918
Southend 1.212
Dublin 900
Fairfield 883
Ashburn 828
Singapore 815
Chandler 540
Moscow 540
Santa Clara 435
Woodbridge 389
Hong Kong 363
Seattle 360
Houston 349
Wilmington 347
Jacksonville 325
Beijing 319
San Jose 312
Ann Arbor 310
Siena 306
Cambridge 286
Hefei 269
Munich 228
Milan 227
Seoul 207
Los Angeles 195
Helsinki 179
Council Bluffs 158
Ho Chi Minh City 140
Menlo Park 139
Princeton 138
The Dalles 137
New York 125
Johannesburg 119
Hanoi 116
Lauterbourg 115
Florence 110
Nanjing 98
Rome 89
Boardman 71
Buffalo 57
San Mateo 55
São Paulo 55
San Diego 48
Shanghai 48
London 44
Nanchang 44
Orem 44
Turku 43
Warsaw 43
Chicago 41
Dong Ket 41
Nuremberg 40
Frankfurt am Main 34
Lancaster 34
Tokyo 34
Bengaluru 32
Brescia 32
Brussels 32
Columbus 31
Málaga 31
Toronto 30
Abidjan 27
Abuja 26
Düsseldorf 26
Paris 26
Rio de Janeiro 26
Washington 26
Denver 25
Bologna 24
Hebei 24
Izmir 24
Shenyang 24
Tianjin 23
Da Nang 22
Phoenix 22
Redondo Beach 22
Chennai 21
Haiphong 21
Atlanta 20
Boston 20
Brooklyn 20
Guangzhou 20
Stockholm 20
Amsterdam 19
Vienna 19
Dearborn 18
Jiaxing 18
Lappeenranta 18
Montreal 18
Norwalk 18
Fremont 17
Naples 17
Jinan 16
Aachen 15
Berlin 15
Brasília 15
Changsha 15
Kunming 15
Tashkent 15
Maastricht 14
Totale 16.281
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Nome #
A first update on mapping the human genetic architecture of COVID-19 575
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 574
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 506
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 499
Genetic mechanisms of critical illness in COVID-19 409
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 387
An explainable model of host genetic interactions linked to COVID-19 severity 365
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 337
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
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 327
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 325
Pathogen-sugar interactions revealed by universal saturation transfer analysis 323
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 321
null 320
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder 315
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 311
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 304
Epilepsy in Rett syndrome - Lessons from the Rett networked database 300
Genomic differences between retinoma and retinoblastoma 299
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 292
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 288
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 283
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 283
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 282
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 281
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 273
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 273
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 272
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 272
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 271
Private inherited microdeletion/microduplications: implications in clinical practice 268
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 266
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 260
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 255
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 253
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 251
AAV-mediated FOXG1 gene editing in human Rett primary cells 249
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 244
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks 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
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 235
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 232
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 231
Huntington's disease gene expansion associates with early onset nonprogressive chorea 229
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 229
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
Analysis of Optineurin gene in Italian Normal Tension Glaucoma. 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 217
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 216
Il gene optineurina (OPTN) non è implicato nel glaucoma primario ad angolo aperto 215
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 213
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases 213
Italian Rett database and biobank 211
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR) 208
iPS cells to model CDKL5-related disorders 208
“Diagnostic and therapeutic tools for X-linked mental retardation syndrome “ 206
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 205
Preserved speech variant is allelic of classic Rett syndrome 205
WES profiling of COVID-19 204
Whole-genome sequencing reveals host factors underlying critical COVID-19 198
Rett syndrome: the complex nature of a monogenic disease 192
Clinical and molecular characterization of COVID-19 hospitalized patients 192
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 191
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 189
Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. 185
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 184
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 181
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families 181
The XLMR gene ACSL4 plays a role in dendritic spine architecture 178
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative 175
Optic Disc Drusen, Angioid Streaks and Mottled Fundus in various combinations in a Sicilian Family 175
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism 175
Is Rett syndrome a loss-of-imprinting disorder? 173
Pseudoxanthoma elasticum: point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11 171
FOXG1 is responsible for the congenital variant of Rett syndrome. 171
The Italian XLMR bank: a clinical and molecular database 168
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 168
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3 166
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 163
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. 162
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit. 160
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 160
Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells 158
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
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 157
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 154
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 154
Preserved Speech Variants of the Rett Syndrome: Molecular and Clinical Analysis 154
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. 153
Study of MECP2 gene in Rett syndrome variants and autistic girls 144
A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profiling 143
Lymphoblastoin cell lines of Rett sindrome patients exposed to exidative-stress-induced apoptosis 143
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey 139
Mosaicism in Alport syndrome and genetic counseling. 135
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 134
null 133
Totale 24.126
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Categoria #
all - tutte 74.766
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 74.766
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021538 0 0 0 0 0 0 0 0 0 221 178 139
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
2025/20269.164 609 1.462 1.446 1.171 1.800 369 1.077 319 409 502 0 0
Totale 24.799