IRIS
PINTO, ANNA MARIA
 Distribuzione geografica
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Continente #
EU - Europa 7.547
NA - Nord America 6.966
AS - Asia 3.584
SA - Sud America 600
AF - Africa 225
OC - Oceania 24
Continente sconosciuto - Info sul continente non disponibili 6
Totale 18.952
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Nazione #
US - Stati Uniti d'America 6.831
IT - Italia 1.854
RU - Federazione Russa 1.773
GB - Regno Unito 1.016
SG - Singapore 997
CN - Cina 919
IE - Irlanda 739
DE - Germania 635
VN - Vietnam 570
BR - Brasile 504
HK - Hong Kong 347
FI - Finlandia 321
FR - Francia 315
SE - Svezia 302
KR - Corea 164
NL - Olanda 138
UA - Ucraina 138
BD - Bangladesh 136
IN - India 131
ZA - Sudafrica 102
CA - Canada 74
ES - Italia 74
PL - Polonia 51
TR - Turchia 44
IQ - Iraq 42
CI - Costa d'Avorio 39
JP - Giappone 39
CZ - Repubblica Ceca 35
MX - Messico 31
AR - Argentina 29
IR - Iran 29
AT - Austria 28
BE - Belgio 26
PK - Pakistan 22
UZ - Uzbekistan 21
CH - Svizzera 19
NG - Nigeria 19
AU - Australia 17
ID - Indonesia 17
VE - Venezuela 17
EC - Ecuador 15
SA - Arabia Saudita 14
AE - Emirati Arabi Uniti 13
KE - Kenya 12
EG - Egitto 10
PH - Filippine 10
TN - Tunisia 10
BG - Bulgaria 8
CL - Cile 8
HU - Ungheria 8
MA - Marocco 8
PE - Perù 8
AL - Albania 7
DZ - Algeria 7
LT - Lituania 7
MY - Malesia 7
PT - Portogallo 7
CO - Colombia 6
HN - Honduras 6
IL - Israele 6
LK - Sri Lanka 6
PY - Paraguay 6
AZ - Azerbaigian 5
CY - Cipro 5
EE - Estonia 5
ET - Etiopia 5
EU - Europa 5
GR - Grecia 5
JM - Giamaica 5
LV - Lettonia 5
NO - Norvegia 5
AO - Angola 4
GE - Georgia 4
HR - Croazia 4
KZ - Kazakistan 4
MK - Macedonia 4
NZ - Nuova Zelanda 4
PA - Panama 4
PS - Palestinian Territory 4
RO - Romania 4
UY - Uruguay 4
AM - Armenia 3
BY - Bielorussia 3
DK - Danimarca 3
DO - Repubblica Dominicana 3
KG - Kirghizistan 3
LB - Libano 3
MD - Moldavia 3
NP - Nepal 3
PR - Porto Rico 3
SN - Senegal 3
BA - Bosnia-Erzegovina 2
BB - Barbados 2
BO - Bolivia 2
BW - Botswana 2
JO - Giordania 2
KW - Kuwait 2
NR - Nauru 2
QA - Qatar 2
TM - Turkmenistan 2
Totale 18.927
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Città #
Dallas 1.665
Southend 847
Dublin 722
Singapore 634
Moscow 559
Ashburn 552
San Jose 409
Munich 360
Chandler 357
Fairfield 357
Santa Clara 337
Hong Kong 323
Siena 321
Hefei 233
Milan 223
Beijing 213
Helsinki 207
Los Angeles 205
Woodbridge 168
Ho Chi Minh City 165
Seoul 161
Seattle 155
Houston 150
Wilmington 147
Cambridge 144
Council Bluffs 144
Ann Arbor 139
New York 135
Florence 123
Hanoi 120
Rome 101
Lauterbourg 96
Jacksonville 94
Johannesburg 92
Princeton 89
The Dalles 69
Menlo Park 58
São Paulo 56
Turku 53
Shanghai 51
Chicago 46
Dong Ket 46
Boardman 45
Buffalo 42
Nuremberg 41
Abidjan 39
Brescia 38
Málaga 38
Orem 38
Warsaw 38
London 36
Frankfurt am Main 35
Tokyo 34
Bengaluru 32
Da Nang 32
Nanjing 32
San Diego 32
Chennai 30
Dearborn 28
Lappeenranta 26
Washington 26
San Mateo 25
Düsseldorf 24
Paris 24
Redondo Beach 24
Denver 23
Brussels 21
Phoenix 21
Stockholm 21
Toronto 21
Aachen 20
Brno 20
Haiphong 20
Montreal 20
Abuja 19
Izmir 19
Hải Dương 17
Portsmouth 17
Tashkent 17
Amsterdam 16
Baghdad 16
Bologna 16
Brooklyn 16
Fremont 16
Berlin 15
Boston 15
Changsha 15
Naples 15
Piscataway 15
Atlanta 14
Maastricht 14
Rio de Janeiro 14
San Francisco 14
Vienna 14
Columbus 13
City of London 12
Newark 12
Shenyang 12
Zurich 12
Ankara 11
Totale 12.458
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Nome #
A first update on mapping the human genetic architecture of COVID-19 582
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 577
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 515
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 504
Genetic mechanisms of critical illness in COVID-19 430
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 418
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 408
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 395
Evidence of predisposing epimutation in retinoblastoma 382
An explainable model of host genetic interactions linked to COVID-19 severity 371
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 356
Pathogen-sugar interactions revealed by universal saturation transfer analysis 355
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 345
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 325
A new mutation in DNM2 gene in a large Italian family 324
null 320
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 314
Alport syndrome: impact of digenic inheritance in patients management 312
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 302
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 291
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 285
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 284
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 258
U1snRNP regulates gene expression and modulates oncogenicity 256
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 255
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 250
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 247
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 237
Non-collagen genes role in digenic Alport syndrome 236
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 235
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 229
Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases 229
Exploiting the potential of next-generation sequencing in genomic medicine 224
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 221
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 220
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 214
AUTS2-related syndrome: Insights from a large European cohort 211
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 208
WES profiling of COVID-19 205
Whole-genome sequencing reveals host factors underlying critical COVID-19 201
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 198
marcatore biologico per l'atrofia muscolare spinale. 195
Clinical and molecular characterization of COVID-19 hospitalized patients 194
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant 193
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation 193
New candidates for autism/intellectual disability identified by whole-exome sequencing 190
Digenic Alport Syndrome 188
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 183
null 182
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 180
An Italian family carrying a new mutation in the COL4A1 gene 177
Natural history of KBG syndrome in a large European cohort 176
Altered expression of RXFP1 receptor contributes to the inefficacy of relaxin-based anti-fibrotic treatments in systemic sclerosis 168
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 167
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 167
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 166
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 164
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 160
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy 159
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 156
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 155
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1 150
Argl6gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis. 147
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 146
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients 145
null 140
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 130
Correction: The 2019 and 2021 International workshops on Alport syndrome 130
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 126
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 122
null 120
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 116
null 115
Arg16gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis 114
The 2019 and 2021 International Workshops on Alport Syndrome 113
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review (Journal of Neurology, (2022), 269, 1, (437-450), 10.1007/s00415-021-10792-3) 110
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 110
null 102
U1 snRNP regulates cancer cell migration and invasion in vitro 97
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals 94
null 94
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology 85
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 84
U1 snRNP determines mRNA length and regulates isoform expression. 84
Clinical, molecular and glycophenotype insights in SLC39A8-CDG 80
U1 snRNP determines mRNA length and regulates isoform expression 79
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility 77
U1 snRNP telescripting regulates a size-function-stratified human genome 76
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. 31
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 21
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 21
Retinoblastoma (hereditary predisposition) 19
Mapping the human genetic architecture of COVID-19 12
Totale 19.332
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Categoria #
all - tutte 60.383
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 60.383
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021126 0 0 0 0 0 0 0 0 0 0 0 126
2021/20221.020 99 94 65 79 52 46 49 46 65 83 121 221
2022/20231.530 77 138 157 154 127 280 192 158 90 60 66 31
2023/20241.494 60 57 169 91 67 346 423 62 9 60 46 104
2024/20253.592 140 134 382 224 379 285 319 260 295 149 336 689
2025/20268.756 618 1.239 1.322 1.125 1.592 304 1.086 256 322 474 289 129
Totale 19.332