IRIS
BRUTTINI, MIRELLA
 Distribuzione geografica
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Continente #
EU - Europa 2.808
NA - Nord America 2.118
AS - Asia 353
AF - Africa 22
SA - Sud America 7
Continente sconosciuto - Info sul continente non disponibili 5
OC - Oceania 5
Totale 5.318
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Nazione #
US - Stati Uniti d'America 2.108
IT - Italia 892
IE - Irlanda 478
GB - Regno Unito 452
RU - Federazione Russa 199
SE - Svezia 194
DE - Germania 172
CN - Cina 158
FR - Francia 108
FI - Finlandia 97
SG - Singapore 89
UA - Ucraina 76
NL - Olanda 34
VN - Vietnam 27
ES - Italia 26
BE - Belgio 21
CI - Costa d'Avorio 20
CZ - Repubblica Ceca 20
IR - Iran 17
TR - Turchia 14
IN - India 13
CH - Svizzera 9
HK - Hong Kong 9
CA - Canada 8
PL - Polonia 8
EU - Europa 5
AU - Australia 4
DK - Danimarca 4
LT - Lituania 4
MK - Macedonia 4
PK - Pakistan 4
JP - Giappone 3
LK - Sri Lanka 3
LV - Lettonia 3
PH - Filippine 3
AE - Emirati Arabi Uniti 2
CL - Cile 2
CY - Cipro 2
EC - Ecuador 2
QA - Qatar 2
RO - Romania 2
SA - Arabia Saudita 2
AR - Argentina 1
AZ - Azerbaigian 1
BG - Bulgaria 1
BR - Brasile 1
DO - Repubblica Dominicana 1
EG - Egitto 1
GR - Grecia 1
HR - Croazia 1
HU - Ungheria 1
MA - Marocco 1
MM - Myanmar 1
MY - Malesia 1
NZ - Nuova Zelanda 1
PA - Panama 1
PE - Perù 1
PT - Portogallo 1
TW - Taiwan 1
UZ - Uzbekistan 1
Totale 5.318
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Città #
Dublin 466
Southend 394
Fairfield 251
Chandler 238
Siena 191
Santa Clara 190
Ashburn 175
Houston 114
Ann Arbor 109
Woodbridge 109
Seattle 102
Florence 88
Cambridge 85
Helsinki 79
Wilmington 71
Singapore 68
Jacksonville 63
Princeton 59
Milan 54
New York 53
Munich 48
Rome 36
Beijing 28
Shanghai 26
Dong Ket 25
Menlo Park 23
Boardman 22
Málaga 21
Abidjan 20
Nanjing 19
Brno 16
Los Angeles 16
San Diego 16
Brussels 15
Brescia 14
Chicago 14
Dearborn 14
Washington 14
Moscow 13
Nuremberg 13
San Mateo 13
London 12
Aachen 11
Fremont 11
Paris 11
Comun Nuovo 10
Izmir 10
Piscataway 10
Dallas 9
Lancaster 9
Naples 9
Hyderabad 8
Hong Kong 7
Livorno 7
Pisa 7
Zanjan 7
Anagni 6
Columbus 6
Detroit 6
Guangzhou 6
Norwalk 6
Redwood City 6
Rubano 6
Shenyang 6
Waanrode 6
Catania 5
Catanzaro 5
Grosseto 5
Jiaxing 5
Migliarino 5
Sesto Fiorentino 5
Tianjin 5
Verona 5
Zhengzhou 5
Amsterdam 4
Bari 4
Basel 4
Bergamo 4
Bologna 4
Carrara 4
Falls Church 4
Fiesole 4
Hangzhou 4
Lappeenranta 4
Saint-Fons 4
Salerno 4
Southwark 4
Toronto 4
Canberra 3
Colombo 3
Espoo 3
Gdynia 3
Guagnano 3
Hebei 3
Hounslow 3
Messina 3
Padova 3
Pistoia 3
Poggibonsi 3
Riga 3
Totale 3.714
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Nome #
Evidence of predisposing epimutation in retinoblastoma 268
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 205
Genetic mechanisms of critical illness in COVID-19 205
Evidence of digenic inheritance in Alport syndrome 196
Genomic differences between retinoma and retinoblastoma 194
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 191
Non-collagen genes role in digenic Alport syndrome 185
Dropped-head in recessive oculopharyngeal muscular dystrophy 177
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 171
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 166
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 163
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 161
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation 160
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 159
2q24-q31 deletion: report of a case and review of the literature 150
Pathogen-sugar interactions revealed by universal saturation transfer analysis 148
Mapping the human genetic architecture of COVID-19 136
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH 134
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 134
Type-IV collagen related diseases 129
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation 127
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 122
A first update on mapping the human genetic architecture of COVID-19 121
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 120
An explainable model of host genetic interactions linked to COVID-19 severity 108
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 106
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 101
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 97
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 94
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 90
Clinical and molecular characterization of COVID-19 hospitalized patients 84
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 84
Natural history of KBG syndrome in a large European cohort 81
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 79
Spondyloocular Syndrome: a novel XYLT2 variant with description of the neonatal phenotype 71
New candidates for autism/intellectual disability identified by whole-exome sequencing 67
Novel retinal finding in a patient with 4q12 deletion 62
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 58
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 57
Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy 57
De novo assembly and annotation of Popillia japonica’s genome with initial clues to its potential as an invasive pest 55
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases 55
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 46
MET is a new confirmed gene responsible for familial distal arthrogryposis 41
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 36
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response 29
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 26
Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype 10
Totale 5.516
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Categoria #
all - tutte 24.353
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 24.353
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020306 0 0 0 0 0 60 47 66 46 37 18 32
2020/2021612 20 35 16 37 48 46 45 59 81 72 89 64
2021/2022701 72 48 34 60 41 30 35 41 46 54 81 159
2022/20231.044 60 99 104 108 81 180 123 100 60 55 46 28
2023/20241.099 43 45 116 67 56 230 278 59 25 52 49 79
2024/20251.038 118 107 265 160 222 166 0 0 0 0 0 0
Totale 5.516