IRIS
PINTO, ANNA MARIA
 Distribuzione geografica
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Continente #
EU - Europa 6.990
NA - Nord America 5.889
AS - Asia 2.635
SA - Sud America 508
AF - Africa 84
OC - Oceania 22
Continente sconosciuto - Info sul continente non disponibili 6
Totale 16.134
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Nazione #
US - Stati Uniti d'America 5.797
RU - Federazione Russa 1.766
IT - Italia 1.606
GB - Regno Unito 982
SG - Singapore 873
CN - Cina 822
IE - Irlanda 736
DE - Germania 607
BR - Brasile 439
SE - Svezia 300
FI - Finlandia 294
HK - Hong Kong 266
FR - Francia 208
KR - Corea 162
VN - Vietnam 158
UA - Ucraina 128
NL - Olanda 105
IN - India 97
ES - Italia 65
CA - Canada 49
PL - Polonia 40
CI - Costa d'Avorio 37
TR - Turchia 34
CZ - Repubblica Ceca 33
BD - Bangladesh 29
IR - Iran 29
JP - Giappone 28
BE - Belgio 26
IQ - Iraq 25
MX - Messico 25
AR - Argentina 22
AT - Austria 22
ZA - Sudafrica 20
AU - Australia 16
PK - Pakistan 14
EC - Ecuador 13
AE - Emirati Arabi Uniti 11
CH - Svizzera 11
UZ - Uzbekistan 11
SA - Arabia Saudita 9
ID - Indonesia 8
PE - Perù 8
PH - Filippine 8
CL - Cile 7
LT - Lituania 7
VE - Venezuela 7
BG - Bulgaria 6
LK - Sri Lanka 6
MA - Marocco 6
AL - Albania 5
EE - Estonia 5
EU - Europa 5
IL - Israele 5
PT - Portogallo 5
TN - Tunisia 5
AZ - Azerbaigian 4
CY - Cipro 4
DZ - Algeria 4
EG - Egitto 4
LV - Lettonia 4
MK - Macedonia 4
NO - Norvegia 4
NZ - Nuova Zelanda 4
PY - Paraguay 4
UY - Uruguay 4
AM - Armenia 3
DK - Danimarca 3
GE - Georgia 3
GR - Grecia 3
HN - Honduras 3
HR - Croazia 3
HU - Ungheria 3
JM - Giamaica 3
KZ - Kazakistan 3
MY - Malesia 3
PA - Panama 3
BA - Bosnia-Erzegovina 2
BY - Bielorussia 2
CO - Colombia 2
ET - Etiopia 2
KE - Kenya 2
KG - Kirghizistan 2
KW - Kuwait 2
LB - Libano 2
NP - Nepal 2
NR - Nauru 2
PR - Porto Rico 2
PS - Palestinian Territory 2
QA - Qatar 2
RO - Romania 2
SN - Senegal 2
TM - Turkmenistan 2
AO - Angola 1
BB - Barbados 1
BH - Bahrain 1
BO - Bolivia 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
GT - Guatemala 1
GY - Guiana 1
Totale 16.121
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Città #
Dallas 1.654
Southend 847
Dublin 719
Singapore 565
Moscow 559
Ashburn 490
Munich 360
Chandler 357
Fairfield 357
Santa Clara 321
Siena 320
Hong Kong 263
Beijing 213
Hefei 201
Milan 195
Helsinki 183
Woodbridge 168
Seoul 160
Seattle 153
Wilmington 147
Houston 146
Cambridge 144
Ann Arbor 139
Los Angeles 127
Florence 118
New York 107
Jacksonville 94
Princeton 89
Rome 89
Menlo Park 58
Turku 53
São Paulo 50
Shanghai 48
Dong Ket 46
Boardman 45
Chicago 40
Nuremberg 40
Málaga 38
Abidjan 37
Brescia 36
Ho Chi Minh City 32
Nanjing 32
Bengaluru 31
Buffalo 31
San Diego 31
Warsaw 30
Lauterbourg 29
Council Bluffs 28
Dearborn 28
London 27
San Mateo 25
Tokyo 25
Düsseldorf 24
Redondo Beach 24
Washington 24
Lappeenranta 23
Hanoi 22
Brussels 21
Aachen 20
Brno 20
Stockholm 19
Denver 18
Izmir 18
Phoenix 18
Portsmouth 17
The Dalles 17
Chennai 16
Frankfurt am Main 16
Fremont 16
Berlin 15
Bologna 14
Boston 14
Brooklyn 14
Maastricht 14
San Francisco 14
Toronto 14
Changsha 13
Amsterdam 12
Columbus 12
Johannesburg 12
Montreal 12
Paris 12
Shenyang 12
Atlanta 11
Mexico City 11
Orem 11
Piscataway 11
Redwood City 11
Rio de Janeiro 11
Baghdad 10
Comun Nuovo 10
Guangzhou 10
Hyderabad 10
Poplar 10
Vienna 10
Ankara 9
Jinan 9
Newark 9
Olomouc 9
Tehran 9
Totale 10.813
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Nome #
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 544
A first update on mapping the human genetic architecture of COVID-19 537
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 459
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 454
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 395
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 358
Evidence of predisposing epimutation in retinoblastoma 353
Genetic mechanisms of critical illness in COVID-19 331
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 328
An explainable model of host genetic interactions linked to COVID-19 severity 324
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 311
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 286
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 286
A new mutation in DNM2 gene in a large Italian family 286
Alport syndrome: impact of digenic inheritance in patients management 281
Pathogen-sugar interactions revealed by universal saturation transfer analysis 269
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 268
Mapping the human genetic architecture of COVID-19 262
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 257
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 245
U1snRNP regulates gene expression and modulates oncogenicity 238
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 232
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 232
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 227
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 225
Non-collagen genes role in digenic Alport syndrome 223
Exploiting the potential of next-generation sequencing in genomic medicine 214
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 207
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 204
Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases 203
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 197
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 191
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 188
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 184
marcatore biologico per l'atrofia muscolare spinale. 183
null 182
WES profiling of COVID-19 182
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 180
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 178
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation 167
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 166
Clinical and molecular characterization of COVID-19 hospitalized patients 166
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 164
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 160
Altered expression of RXFP1 receptor contributes to the inefficacy of relaxin-based anti-fibrotic treatments in systemic sclerosis 145
Digenic Alport Syndrome 143
Whole-genome sequencing reveals host factors underlying critical COVID-19 143
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 143
An Italian family carrying a new mutation in the COL4A1 gene 143
New candidates for autism/intellectual disability identified by whole-exome sequencing 143
Natural history of KBG syndrome in a large European cohort 142
null 140
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1 139
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 139
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients 138
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 137
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy 132
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 132
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 132
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 129
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 127
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant 125
Argl6gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis. 125
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 123
AUTS2-related syndrome: Insights from a large European cohort 123
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 120
null 120
null 115
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 114
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 106
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 106
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 104
null 102
Correction: The 2019 and 2021 International workshops on Alport syndrome 101
Arg16gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis 99
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) 98
The 2019 and 2021 International Workshops on Alport Syndrome 94
null 94
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 84
U1 snRNP regulates cancer cell migration and invasion in vitro 82
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology 74
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 73
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals 68
U1 snRNP determines mRNA length and regulates isoform expression. 67
U1 snRNP telescripting regulates a size-function-stratified human genome 65
U1 snRNP determines mRNA length and regulates isoform expression 65
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility 62
Clinical, molecular and glycophenotype insights in SLC39A8-CDG 58
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. 24
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 18
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 16
Retinoblastoma (hereditary predisposition) 15
Totale 16.514
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Categoria #
all - tutte 53.509
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 53.509
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021922 0 0 0 0 0 122 115 129 121 188 121 126
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
2025/20265.938 618 1.239 1.322 1.125 1.592 42 0 0 0 0 0 0
Totale 16.514