IRIS
BRUTTINI, MIRELLA
 Distribuzione geografica
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Continente #
EU - Europa 2.347
NA - Nord America 1.929
AS - Asia 220
Continente sconosciuto - Info sul continente non disponibili 5
OC - Oceania 5
SA - Sud America 4
Totale 4.510
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Nazione #
US - Stati Uniti d'America 1.921
IT - Italia 677
IE - Irlanda 535
GB - Regno Unito 457
SE - Svezia 204
CN - Cina 125
DE - Germania 114
FR - Francia 114
FI - Finlandia 78
UA - Ucraina 76
ES - Italia 28
VN - Vietnam 25
BE - Belgio 17
IR - Iran 15
TR - Turchia 14
NL - Olanda 13
IN - India 12
CH - Svizzera 9
CA - Canada 8
HK - Hong Kong 8
PL - Polonia 6
RU - Federazione Russa 6
EU - Europa 5
PK - Pakistan 5
AU - Australia 4
MK - Macedonia 4
PH - Filippine 3
RO - Romania 3
CL - Cile 2
CY - Cipro 2
DK - Danimarca 2
JP - Giappone 2
QA - Qatar 2
AE - Emirati Arabi Uniti 1
AR - Argentina 1
AZ - Azerbaigian 1
BG - Bulgaria 1
BR - Brasile 1
EE - Estonia 1
GR - Grecia 1
LK - Sri Lanka 1
LT - Lituania 1
MM - Myanmar 1
MY - Malesia 1
NZ - Nuova Zelanda 1
SA - Arabia Saudita 1
TW - Taiwan 1
Totale 4.510
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Città #
Dublin 523
Southend 407
Chandler 258
Fairfield 252
Ashburn 194
Siena 148
Houston 114
Ann Arbor 110
Woodbridge 109
Seattle 104
Cambridge 85
Florence 72
Wilmington 71
Helsinki 65
New York 64
Jacksonville 63
Princeton 63
Milan 30
Shanghai 30
Rome 28
Beijing 26
Málaga 26
Dong Ket 25
Menlo Park 23
Nanjing 19
Boardman 17
San Diego 17
Washington 17
Dearborn 14
Fremont 14
San Mateo 13
Aachen 11
Brussels 11
Los Angeles 11
Comun Nuovo 10
Izmir 10
London 10
Lancaster 9
Chicago 8
Hyderabad 8
Paris 8
Naples 7
Zanjan 7
Detroit 6
Grosseto 6
Hong Kong 6
Norwalk 6
Redwood City 6
Rubano 6
Shenyang 6
Waanrode 6
Brescia 5
Catania 5
Dallas 5
Guangzhou 5
Jiaxing 5
Pisa 5
Sesto Fiorentino 5
Tianjin 5
Verona 5
Amsterdam 4
Bari 4
Basel 4
Bergamo 4
Bologna 4
Carrara 4
Falls Church 4
Fiesole 4
Gdynia 4
Hangzhou 4
Prato 4
Saint-Fons 4
Salerno 4
Southwark 4
Arese 3
Canberra 3
Guagnano 3
Hebei 3
Hounslow 3
Livorno 3
Palermo 3
Pistoia 3
Poggibonsi 3
Rieti 3
Strada in Chianti 3
Toronto 3
Uzzano 3
Zhengzhou 3
Zurich 3
Andover 2
Ardea 2
Bonndorf 2
Carbonara di Nola 2
Casale 2
Casalecchio di Reno 2
Changsha 2
Chieti 2
Doha 2
Ferrara di Monte Baldo 2
Giugliano in Campania 2
Totale 3.327
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Nome #
Evidence of predisposing epimutation in retinoblastoma 239
Evidence of digenic inheritance in Alport syndrome 182
Genomic differences between retinoma and retinoblastoma. 177
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 176
Non-collagen genes role in digenic Alport syndrome 175
Genetic mechanisms of critical illness in COVID-19 171
null 170
Dropped-head in recessive oculopharyngeal muscular dystrophy 165
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 161
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation 151
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 150
2q24-q31 deletion: report of a case and review of the literature 137
null 134
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 127
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH 123
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 119
Type-IV collagen related diseases 117
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation 116
null 114
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 112
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males. 110
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 90
Mapping the human genetic architecture of COVID-19 90
Pathogen-sugar interactions revealed by universal saturation transfer analysis 83
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 83
A first update on mapping the human genetic architecture of COVID-19 80
null 75
Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes 75
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 73
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 73
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 69
An explainable model of host genetic interactions linked to COVID-19 severity 68
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 62
null 61
Exome sequencing in 200 intellectual disability/autistic patients: New candidates and atypical presentations 60
Natural history of KBG syndrome in a large European cohort 59
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype 55
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing 51
Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy 46
Novel retinal finding in a patient with 4q12 deletion 44
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases 43
Whole-genome sequencing reveals host factors underlying critical COVID-19 38
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 32
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 32
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women 30
Clinical and molecular characterization of COVID-19 hospitalized patients 26
De novo assembly and annotation of Popillia japonica’s genome with initial clues to its potential as an invasive pest 17
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 11
MET is a new confirmed gene responsible for familial distal arthrogryposis 10
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 4
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 3
Totale 4.669
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Categoria #
all - tutte 18.387
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 18.387
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019181 0 0 0 0 0 0 0 0 0 0 111 70
2019/2020552 59 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
2021/2022754 72 48 35 64 42 36 40 47 51 55 94 170
2022/20231.152 67 112 112 118 91 186 134 111 82 61 48 30
2023/20241.129 46 45 137 76 66 273 318 70 30 67 1 0
Totale 4.669