IRIS
MELONI, ILARIA
 Distribuzione geografica
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Continente #
NA - Nord America 5.705
EU - Europa 5.316
AS - Asia 707
OC - Oceania 15
SA - Sud America 8
AF - Africa 5
Continente sconosciuto - Info sul continente non disponibili 5
Totale 11.761
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Nazione #
US - Stati Uniti d'America 5.689
GB - Regno Unito 1.337
IT - Italia 1.078
IE - Irlanda 946
CN - Cina 498
SE - Svezia 458
UA - Ucraina 411
DE - Germania 407
FR - Francia 284
FI - Finlandia 161
SG - Singapore 50
RU - Federazione Russa 46
ES - Italia 44
VN - Vietnam 42
BE - Belgio 38
NL - Olanda 29
TR - Turchia 26
CZ - Repubblica Ceca 25
IN - India 24
IR - Iran 18
HK - Hong Kong 17
AU - Australia 13
CA - Canada 11
CH - Svizzera 11
PL - Polonia 8
GR - Grecia 7
EU - Europa 5
RO - Romania 5
CL - Cile 4
ID - Indonesia 4
IL - Israele 4
MK - Macedonia 4
BR - Brasile 3
KR - Corea 3
PH - Filippine 3
AL - Albania 2
AT - Austria 2
BG - Bulgaria 2
CY - Cipro 2
JP - Giappone 2
LV - Lettonia 2
MX - Messico 2
MY - Malesia 2
NZ - Nuova Zelanda 2
PK - Pakistan 2
PT - Portogallo 2
QA - Qatar 2
ZA - Sudafrica 2
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
CR - Costa Rica 1
DK - Danimarca 1
EC - Ecuador 1
EE - Estonia 1
EG - Egitto 1
GD - Grenada 1
GE - Georgia 1
HU - Ungheria 1
IS - Islanda 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MA - Marocco 1
MM - Myanmar 1
MS - Montserrat 1
NG - Nigeria 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TW - Taiwan 1
UZ - Uzbekistan 1
Totale 11.761
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Città #
Southend 1.220
Dublin 929
Fairfield 888
Chandler 545
Ashburn 537
Woodbridge 398
Seattle 354
Wilmington 352
Houston 338
Jacksonville 330
Ann Arbor 310
Cambridge 290
Siena 260
Menlo Park 139
Princeton 137
Beijing 101
Nanjing 101
Florence 91
Helsinki 86
New York 82
Boardman 65
Milan 58
San Mateo 56
San Diego 48
Nanchang 43
Dong Ket 41
Rome 38
Shanghai 36
Málaga 34
Lancaster 30
Moscow 28
Singapore 27
Brussels 26
Hebei 24
Shenyang 24
Izmir 23
Washington 23
London 22
Tianjin 21
Chicago 18
Dearborn 18
Norwalk 18
Jiaxing 16
Kunming 16
Los Angeles 16
Aachen 15
Brno 15
Fremont 15
Jinan 15
Ningbo 14
Empoli 13
Changsha 12
Falls Church 12
Hong Kong 12
Waanrode 12
Hangzhou 11
Comun Nuovo 10
Düsseldorf 10
Guangzhou 10
Redwood City 10
Taizhou 10
Hyderabad 9
Munich 9
Verona 9
Zhengzhou 9
Bologna 8
Naples 8
Napoli 8
Paris 8
Phoenix 8
Venezia 8
Zanjan 8
Brescia 7
Carrara 7
Toronto 7
Canberra 6
Livorno 6
Migliarino 6
Pisa 6
Rubano 6
San Francisco 6
Amsterdam 5
Bergamo 5
Catania 5
Changchun 5
Genova 5
Grosseto 5
Lappeenranta 5
Loro Ciuffenna 5
Olomouc 5
Bangalore 4
Bari 4
Cagliari 4
Fiesole 4
Gdynia 4
Kilburn 4
Leawood 4
Melbourne 4
Mestre 4
Monteriggioni 4
Totale 8.687
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Nome #
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 238
Visual impairment in FOXG1-mutated individuals and mice 218
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 218
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 214
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks 196
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 193
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 193
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder 192
Epilepsy in Rett syndrome - Lessons from the Rett networked database 191
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 180
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 180
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 180
Genomic differences between retinoma and retinoblastoma 179
Genetic mechanisms of critical illness in COVID-19 175
null 171
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 170
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 170
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 168
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 165
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 163
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 160
Private inherited microdeletion/microduplications: implications in clinical practice 160
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 152
X-linked mental retardation: a diagnostic, clinical and molecular update 151
Huntington's disease gene expansion associates with early onset nonprogressive chorea 149
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 147
“Diagnostic and therapeutic tools for X-linked mental retardation syndrome “ 147
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 147
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases 144
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 141
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 138
Italian Rett database and biobank 136
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 136
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. 135
null 135
iPS cells to model CDKL5-related disorders 133
null 133
Il gene optineurina (OPTN) non è implicato nel glaucoma primario ad angolo aperto 132
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 132
Preserved speech variant is allelic of classic Rett syndrome 130
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 130
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 128
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 127
The XLMR gene ACSL4 plays a role in dendritic spine architecture 124
null 123
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism 122
AAV-mediated FOXG1 gene editing in human Rett primary cells 122
Rett syndrome: the complex nature of a monogenic disease 120
Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. 119
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 119
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families 119
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 117
null 115
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 114
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 114
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR) 114
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 111
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. 111
FOXG1 is responsible for the congenital variant of Rett syndrome. 109
Preserved Speech Variants of the Rett Syndrome: Molecular and Clinical Analysis 109
Optic Disc Drusen, Angioid Streaks and Mottled Fundus in various combinations in a Sicilian Family 108
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3 108
Pseudoxanthoma elasticum: point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11 107
Mapping the human genetic architecture of COVID-19 107
Pathogen-sugar interactions revealed by universal saturation transfer analysis 106
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 105
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 104
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 104
The Italian XLMR bank: a clinical and molecular database 102
Is Rett syndrome a loss-of-imprinting disorder? 102
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. 101
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit. 101
Analysis of Optineurin gene in Italian Normal Tension Glaucoma. 94
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 93
A first update on mapping the human genetic architecture of COVID-19 91
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 91
Study of MECP2 gene in Rett syndrome variants and autistic girls 85
Lymphoblastoin cell lines of Rett sindrome patients exposed to exidative-stress-induced apoptosis 84
WES profiling of COVID-19 83
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 79
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 77
Mosaicism in Alport syndrome and genetic counseling. 76
null 75
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 72
An explainable model of host genetic interactions linked to COVID-19 severity 70
Evaluation of optinuerin gene mutations in the common high-tension form of primary open angle glaucoma 68
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 68
null 62
The phenomenon of multidrug resistance in glioblastomas 60
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 51
null 48
Whole-genome sequencing reveals host factors underlying critical COVID-19 45
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 42
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability 39
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women 38
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 35
Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder 31
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative 30
Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells 28
Clinical and molecular characterization of COVID-19 hospitalized patients 27
Totale 11.956
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Categoria #
all - tutte 39.967
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 39.967
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.195 302 85 145 338 167 162 189 267 204 164 51 121
2020/20211.855 82 169 110 181 97 167 89 216 204 221 180 139
2021/20221.481 151 164 87 116 85 51 73 58 71 146 173 306
2022/20232.118 122 182 232 259 199 373 145 185 183 77 96 65
2023/20241.836 95 61 197 115 81 432 528 74 21 52 60 120
2024/202586 86 0 0 0 0 0 0 0 0 0 0 0
Totale 12.053