IRIS
BRUTTINI, MIRELLA
 Distribuzione geografica
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Continente #
EU - Europa 2.509
NA - Nord America 1.912
AS - Asia 260
Continente sconosciuto - Info sul continente non disponibili 5
OC - Oceania 5
SA - Sud America 4
AF - Africa 1
Totale 4.696
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Nazione #
US - Stati Uniti d'America 1.904
IT - Italia 767
IE - Irlanda 525
GB - Regno Unito 455
SE - Svezia 199
DE - Germania 129
CN - Cina 125
FR - Francia 109
FI - Finlandia 79
UA - Ucraina 76
RU - Federazione Russa 60
SG - Singapore 39
ES - Italia 28
VN - Vietnam 26
CZ - Repubblica Ceca 21
BE - Belgio 17
IR - Iran 15
NL - Olanda 14
TR - Turchia 14
IN - India 12
CH - Svizzera 8
HK - Hong Kong 8
CA - Canada 7
PL - Polonia 6
EU - Europa 5
AU - Australia 4
MK - Macedonia 4
PK - Pakistan 4
PH - Filippine 3
RO - Romania 3
CL - Cile 2
CY - Cipro 2
DK - Danimarca 2
JP - Giappone 2
LT - Lituania 2
QA - Qatar 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AR - Argentina 1
AZ - Azerbaigian 1
BG - Bulgaria 1
BR - Brasile 1
CR - Costa Rica 1
EE - Estonia 1
GR - Grecia 1
LK - Sri Lanka 1
LV - Lettonia 1
MA - Marocco 1
MM - Myanmar 1
MY - Malesia 1
NZ - Nuova Zelanda 1
SA - Arabia Saudita 1
TW - Taiwan 1
UZ - Uzbekistan 1
Totale 4.696
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Città #
Dublin 513
Southend 404
Fairfield 251
Chandler 246
Ashburn 184
Siena 165
Houston 114
Ann Arbor 109
Woodbridge 109
Seattle 104
Cambridge 85
Florence 83
Wilmington 71
Helsinki 65
Jacksonville 63
New York 61
Princeton 61
Milan 35
Rome 32
Shanghai 28
Beijing 26
Dong Ket 25
Málaga 25
Boardman 23
Menlo Park 23
Singapore 20
Brno 19
Nanjing 19
Chicago 16
San Diego 16
Washington 15
Dearborn 14
Moscow 13
San Mateo 13
Fremont 12
Munich 12
Aachen 11
Brussels 11
Los Angeles 11
Comun Nuovo 10
Izmir 10
London 10
Dallas 9
Lancaster 9
Hyderabad 8
Naples 8
Paris 8
Livorno 7
Verona 7
Zanjan 7
Anagni 6
Detroit 6
Guangzhou 6
Hong Kong 6
Norwalk 6
Pisa 6
Redwood City 6
Rubano 6
Shenyang 6
Waanrode 6
Brescia 5
Catania 5
Grosseto 5
Jiaxing 5
Migliarino 5
Padova 5
Sesto Fiorentino 5
Tianjin 5
Amsterdam 4
Bari 4
Basel 4
Bergamo 4
Bologna 4
Carrara 4
Falls Church 4
Fiesole 4
Hangzhou 4
Prato 4
Saint-Fons 4
Salerno 4
Southwark 4
Canberra 3
Clifton 3
Gdynia 3
Guagnano 3
Hebei 3
Hounslow 3
Lappeenranta 3
Palermo 3
Pistoia 3
Poggibonsi 3
Rieti 3
Strada in Chianti 3
Wustrow 3
Zhengzhou 3
Zurich 3
Ardea 2
Bonndorf 2
Capaccio 2
Carbonara di Nola 2
Totale 3.405
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Nome #
Evidence of predisposing epimutation in retinoblastoma 242
Evidence of digenic inheritance in Alport syndrome 184
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 181
Genomic differences between retinoma and retinoblastoma 180
Non-collagen genes role in digenic Alport syndrome 178
Genetic mechanisms of critical illness in COVID-19 177
null 171
Dropped-head in recessive oculopharyngeal muscular dystrophy 169
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 165
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 155
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation 154
2q24-q31 deletion: report of a case and review of the literature 141
null 135
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 132
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 128
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH 126
Type-IV collagen related diseases 119
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation 118
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 118
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 115
Pathogen-sugar interactions revealed by universal saturation transfer analysis 108
Mapping the human genetic architecture of COVID-19 108
A first update on mapping the human genetic architecture of COVID-19 95
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 94
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 91
An explainable model of host genetic interactions linked to COVID-19 severity 82
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 81
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 79
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 78
Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes 78
null 75
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 74
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 67
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 66
Spondyloocular Syndrome: a novel XYLT2 variant with description of the neonatal phenotype 62
Natural history of KBG syndrome in a large European cohort 61
New candidates for autism/intellectual disability identified by whole-exome sequencing 55
Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy 49
Novel retinal finding in a patient with 4q12 deletion 48
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases 47
Whole-genome sequencing reveals host factors underlying critical COVID-19 45
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 38
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 35
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 34
De novo assembly and annotation of Popillia japonica’s genome with initial clues to its potential as an invasive pest 30
Clinical and molecular characterization of COVID-19 hospitalized patients 28
MET is a new confirmed gene responsible for familial distal arthrogryposis 24
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 21
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 17
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 11
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 4
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 4
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response 4
Totale 4.881
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Categoria #
all - tutte 20.316
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 20.316
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020493 0 29 30 81 47 60 47 66 46 37 18 32
2020/2021612 20 35 16 37 48 46 45 59 81 72 89 64
2021/2022723 72 48 35 64 42 33 36 42 47 55 86 163
2022/20231.092 61 105 107 110 85 183 125 104 76 60 46 30
2023/20241.235 46 46 128 75 62 258 311 65 29 67 56 92
2024/2025197 127 70 0 0 0 0 0 0 0 0 0 0
Totale 4.881