IRIS
MELONI, ILARIA
 Distribuzione geografica
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Continente #
EU - Europa 5.913
NA - Nord America 5.733
AS - Asia 882
AF - Africa 31
OC - Oceania 15
SA - Sud America 13
Continente sconosciuto - Info sul continente non disponibili 5
Totale 12.592
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Nazione #
US - Stati Uniti d'America 5.715
GB - Regno Unito 1.339
IT - Italia 1.259
IE - Irlanda 915
CN - Cina 524
SE - Svezia 464
DE - Germania 453
UA - Ucraina 411
RU - Federazione Russa 398
FR - Francia 289
SG - Singapore 181
FI - Finlandia 175
VN - Vietnam 43
BE - Belgio 42
ES - Italia 42
NL - Olanda 38
IN - India 28
TR - Turchia 26
CI - Costa d'Avorio 24
CZ - Repubblica Ceca 22
IR - Iran 18
HK - Hong Kong 16
CA - Canada 14
AU - Australia 13
CH - Svizzera 13
PL - Polonia 10
BG - Bulgaria 7
GR - Grecia 7
CL - Cile 5
EU - Europa 5
IL - Israele 5
AZ - Azerbaigian 4
BR - Brasile 4
ID - Indonesia 4
LV - Lettonia 4
MK - Macedonia 4
RO - Romania 4
CY - Cipro 3
DK - Danimarca 3
JP - Giappone 3
KR - Corea 3
PH - Filippine 3
PT - Portogallo 3
AT - Austria 2
EC - Ecuador 2
EG - Egitto 2
HR - Croazia 2
KZ - Kazakistan 2
LK - Sri Lanka 2
MA - Marocco 2
MX - Messico 2
MY - Malesia 2
NZ - Nuova Zelanda 2
PE - Perù 2
PK - Pakistan 2
QA - Qatar 2
SA - Arabia Saudita 2
UZ - Uzbekistan 2
ZA - Sudafrica 2
AL - Albania 1
BA - Bosnia-Erzegovina 1
BY - Bielorussia 1
GD - Grenada 1
GE - Georgia 1
HU - Ungheria 1
JO - Giordania 1
KG - Kirghizistan 1
LA - Repubblica Popolare Democratica del Laos 1
LT - Lituania 1
LU - Lussemburgo 1
MM - Myanmar 1
MS - Montserrat 1
NG - Nigeria 1
SK - Slovacchia (Repubblica Slovacca) 1
TM - Turkmenistan 1
TW - Taiwan 1
Totale 12.592
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Città #
Southend 1.220
Dublin 899
Fairfield 893
Chandler 548
Ashburn 530
Woodbridge 398
Seattle 353
Wilmington 353
Houston 338
Jacksonville 330
Ann Arbor 310
Siena 298
Cambridge 290
Menlo Park 139
Princeton 139
Singapore 134
Beijing 102
Nanjing 101
Helsinki 95
Florence 93
Milan 79
New York 74
Boardman 62
San Mateo 56
San Diego 48
Munich 43
Nanchang 43
Rome 43
Dong Ket 41
Shanghai 38
Málaga 31
Brussels 30
Lancaster 30
Moscow 29
Abidjan 24
Hebei 24
Shenyang 24
Izmir 23
London 23
Tianjin 22
Washington 22
Los Angeles 21
Dearborn 18
Norwalk 18
Fremont 17
Chicago 16
Jiaxing 16
Kunming 16
Aachen 15
Jinan 15
Ningbo 14
Nuremberg 14
Brno 13
Empoli 13
Brescia 12
Changsha 12
Falls Church 12
Naples 12
Waanrode 12
Hangzhou 11
Hong Kong 11
Paris 11
Comun Nuovo 10
Düsseldorf 10
Guangzhou 10
Pisa 10
Redwood City 10
Taizhou 10
Bologna 9
Hyderabad 9
Toronto 9
Zhengzhou 9
Dallas 8
Napoli 8
Phoenix 8
Santa Clara 8
Venezia 8
Zanjan 8
Carrara 7
Columbus 7
Sofia 7
Verona 7
Anagni 6
Canberra 6
Lappeenranta 6
Livorno 6
Migliarino 6
Rubano 6
Salerno 6
San Francisco 6
Amsterdam 5
Bergamo 5
Catania 5
Catanzaro 5
Changchun 5
Genova 5
Grosseto 5
Loro Ciuffenna 5
Prague 5
Baku 4
Totale 8.940
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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 250
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 226
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 225
Visual impairment in FOXG1-mutated individuals and mice 224
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 202
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder 201
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks 200
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 199
Genetic mechanisms of critical illness in COVID-19 199
Epilepsy in Rett syndrome - Lessons from the Rett networked database 198
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 198
Genomic differences between retinoma and retinoblastoma 188
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 186
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 184
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 183
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 182
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 177
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 175
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 175
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 173
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 167
Private inherited microdeletion/microduplications: implications in clinical practice 167
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 161
X-linked mental retardation: a diagnostic, clinical and molecular update 160
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 155
“Diagnostic and therapeutic tools for X-linked mental retardation syndrome “ 155
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 155
Huntington's disease gene expansion associates with early onset nonprogressive chorea 154
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 153
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 152
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 150
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases 149
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 148
Il gene optineurina (OPTN) non è implicato nel glaucoma primario ad angolo aperto 145
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 143
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 141
iPS cells to model CDKL5-related disorders 140
Italian Rett database and biobank 139
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 139
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 139
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 137
Preserved speech variant is allelic of classic Rett syndrome 134
null 133
AAV-mediated FOXG1 gene editing in human Rett primary cells 133
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 132
Pathogen-sugar interactions revealed by universal saturation transfer analysis 131
The XLMR gene ACSL4 plays a role in dendritic spine architecture 128
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 125
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families 125
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism 125
Mapping the human genetic architecture of COVID-19 125
Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. 123
Rett syndrome: the complex nature of a monogenic disease 123
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 123
null 123
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 121
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR) 119
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 118
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 115
Optic Disc Drusen, Angioid Streaks and Mottled Fundus in various combinations in a Sicilian Family 114
FOXG1 is responsible for the congenital variant of Rett syndrome. 114
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3 113
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. 113
A first update on mapping the human genetic architecture of COVID-19 112
Preserved Speech Variants of the Rett Syndrome: Molecular and Clinical Analysis 112
Pseudoxanthoma elasticum: point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11 109
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 109
Is Rett syndrome a loss-of-imprinting disorder? 108
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 107
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 107
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 107
The Italian XLMR bank: a clinical and molecular database 105
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit. 105
Analysis of Optineurin gene in Italian Normal Tension Glaucoma. 104
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. 104
An explainable model of host genetic interactions linked to COVID-19 severity 103
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 99
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 99
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 98
WES profiling of COVID-19 96
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 92
Lymphoblastoin cell lines of Rett sindrome patients exposed to exidative-stress-induced apoptosis 89
Study of MECP2 gene in Rett syndrome variants and autistic girls 89
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 86
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 81
Mosaicism in Alport syndrome and genetic counseling. 79
Clinical and molecular characterization of COVID-19 hospitalized patients 79
Evaluation of optinuerin gene mutations in the common high-tension form of primary open angle glaucoma 73
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 73
The phenomenon of multidrug resistance in glioblastomas 66
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 64
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 59
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 53
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability 45
Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells 42
Whole-genome sequencing reveals host factors underlying critical COVID-19 40
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 39
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative 38
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 34
Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder 33
Totale 12.842
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Categoria #
all - tutte 45.606
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 45.606
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.325 0 0 0 0 167 162 189 267 204 164 51 121
2020/20211.855 82 169 110 181 97 167 89 216 204 221 180 139
2021/20221.499 151 169 87 119 86 51 74 58 71 147 177 309
2022/20232.109 124 185 239 262 200 377 145 177 166 73 97 64
2023/20241.712 92 58 191 109 76 407 500 66 17 41 45 110
2024/20251.075 139 174 411 261 90 0 0 0 0 0 0 0
Totale 12.927