IRIS
PINTO, ANNA MARIA
 Distribuzione geografica
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Continente #
EU - Europa 7.444
NA - Nord America 6.710
AS - Asia 3.493
SA - Sud America 600
AF - Africa 225
OC - Oceania 24
Continente sconosciuto - Info sul continente non disponibili 6
Totale 18.502
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Nazione #
US - Stati Uniti d'America 6.588
RU - Federazione Russa 1.773
IT - Italia 1.769
GB - Regno Unito 1.016
SG - Singapore 990
CN - Cina 914
IE - Irlanda 739
DE - Germania 634
VN - Vietnam 570
BR - Brasile 504
HK - Hong Kong 344
FI - Finlandia 321
FR - Francia 312
SE - Svezia 302
KR - Corea 164
UA - Ucraina 138
IN - India 131
NL - Olanda 127
ZA - Sudafrica 102
ES - Italia 73
CA - Canada 65
BD - Bangladesh 60
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 27
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
CL - Cile 8
HU - Ungheria 8
MA - Marocco 8
PE - Perù 8
AL - Albania 7
BG - Bulgaria 7
DZ - Algeria 7
LT - Lituania 7
MY - Malesia 7
PT - Portogallo 7
CO - Colombia 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
HN - Honduras 5
LV - Lettonia 5
NO - Norvegia 5
AO - Angola 4
GE - Georgia 4
HR - Croazia 4
JM - Giamaica 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
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
PR - Porto Rico 2
QA - Qatar 2
TM - Turkmenistan 2
Totale 18.478
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Città #
Dallas 1.658
Southend 847
Dublin 722
Singapore 633
Moscow 559
Ashburn 543
Munich 360
Chandler 357
Fairfield 357
Santa Clara 327
Siena 321
Hong Kong 320
San Jose 311
Hefei 233
Milan 214
Beijing 213
Helsinki 207
Los Angeles 195
Woodbridge 168
Ho Chi Minh City 165
Seoul 161
Seattle 154
Houston 148
Wilmington 147
Cambridge 144
Council Bluffs 144
Ann Arbor 139
New York 127
Florence 122
Hanoi 120
Lauterbourg 96
Rome 95
Jacksonville 94
Johannesburg 92
Princeton 89
The Dalles 68
Menlo Park 58
São Paulo 56
Turku 53
Shanghai 51
Chicago 46
Dong Ket 46
Boardman 45
Nuremberg 41
Abidjan 39
Brescia 38
Málaga 38
Orem 38
Warsaw 38
London 36
Buffalo 35
Frankfurt am Main 35
Tokyo 34
Bengaluru 32
Da Nang 32
Nanjing 32
San Diego 32
Chennai 30
Dearborn 28
Lappeenranta 26
San Mateo 25
Washington 25
Düsseldorf 24
Paris 24
Redondo Beach 24
Brussels 21
Denver 21
Stockholm 21
Aachen 20
Brno 20
Haiphong 20
Phoenix 20
Abuja 19
Izmir 19
Montreal 19
Hải Dương 17
Portsmouth 17
Tashkent 17
Toronto 17
Amsterdam 16
Baghdad 16
Brooklyn 16
Fremont 16
Berlin 15
Bologna 15
Boston 15
Changsha 15
Atlanta 14
Maastricht 14
Piscataway 14
Rio de Janeiro 14
San Francisco 14
Vienna 14
City of London 12
Columbus 12
Shenyang 12
Zurich 12
Ankara 11
Can Tho 11
Guangzhou 11
Totale 12.268
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Nome #
A first update on mapping the human genetic architecture of COVID-19 575
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 574
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 505
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 499
Genetic mechanisms of critical illness in COVID-19 409
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 407
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 394
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 387
Evidence of predisposing epimutation in retinoblastoma 378
An explainable model of host genetic interactions linked to COVID-19 severity 365
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 342
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 337
Pathogen-sugar interactions revealed by universal saturation transfer analysis 323
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 322
null 320
A new mutation in DNM2 gene in a large Italian family 316
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 311
Alport syndrome: impact of digenic inheritance in patients management 306
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 292
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 283
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 282
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 272
U1snRNP regulates gene expression and modulates oncogenicity 254
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 253
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 251
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 248
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 242
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 234
Non-collagen genes role in digenic Alport syndrome 233
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 232
Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases 226
Exploiting the potential of next-generation sequencing in genomic medicine 222
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 218
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 217
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 216
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 213
WES profiling of COVID-19 204
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 202
Whole-genome sequencing reveals host factors underlying critical COVID-19 198
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 197
marcatore biologico per l'atrofia muscolare spinale. 194
Clinical and molecular characterization of COVID-19 hospitalized patients 191
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation 188
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant 183
null 182
Digenic Alport Syndrome 181
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 180
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 176
An Italian family carrying a new mutation in the COL4A1 gene 175
Natural history of KBG syndrome in a large European cohort 173
New candidates for autism/intellectual disability identified by whole-exome sequencing 171
AUTS2-related syndrome: Insights from a large European cohort 166
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 164
Altered expression of RXFP1 receptor contributes to the inefficacy of relaxin-based anti-fibrotic treatments in systemic sclerosis 164
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 163
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 163
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 161
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 157
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 155
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy 154
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 154
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1 149
Argl6gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis. 147
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients 145
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 143
null 140
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 129
Correction: The 2019 and 2021 International workshops on Alport syndrome 124
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 120
null 120
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 119
null 115
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 114
The 2019 and 2021 International Workshops on Alport Syndrome 113
Arg16gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis 112
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 108
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) 107
null 102
null 94
U1 snRNP regulates cancer cell migration and invasion in vitro 93
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals 91
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 82
U1 snRNP determines mRNA length and regulates isoform expression. 82
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility 76
U1 snRNP determines mRNA length and regulates isoform expression 75
U1 snRNP telescripting regulates a size-function-stratified human genome 74
Clinical, molecular and glycophenotype insights in SLC39A8-CDG 73
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) 18
Mapping the human genetic architecture of COVID-19 5
Totale 18.882
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Categoria #
all - tutte 57.866
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 57.866
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021435 0 0 0 0 0 0 0 0 0 188 121 126
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
2025/20268.306 618 1.239 1.322 1.125 1.592 304 1.086 256 322 442 0 0
Totale 18.882