IRIS
PINTO, ANNA MARIA
 Distribuzione geografica
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Continente #
EU - Europa 7.906
NA - Nord America 7.451
AS - Asia 3.615
SA - Sud America 603
Continente sconosciuto - Info sul continente non disponibili 389
AF - Africa 225
OC - Oceania 24
Totale 20.213
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Nazione #
US - Stati Uniti d'America 7.293
IT - Italia 2.200
RU - Federazione Russa 1.773
GB - Regno Unito 1.017
SG - Singapore 1.000
CN - Cina 926
IE - Irlanda 739
DE - Germania 635
VN - Vietnam 570
BR - Brasile 505
HK - Hong Kong 349
FI - Finlandia 322
FR - Francia 315
SE - Svezia 307
KR - Corea 164
BD - Bangladesh 151
NL - Olanda 139
UA - Ucraina 138
IN - India 132
ZA - Sudafrica 102
CA - Canada 85
ES - Italia 75
PL - Polonia 52
TR - Turchia 44
IQ - Iraq 42
CI - Costa d'Avorio 39
JP - Giappone 39
CZ - Repubblica Ceca 36
MX - Messico 31
AR - Argentina 30
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 16
SA - Arabia Saudita 14
AE - Emirati Arabi Uniti 13
KE - Kenya 12
PH - Filippine 11
EG - Egitto 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
HN - Honduras 7
LT - Lituania 7
MY - Malesia 7
PT - Portogallo 7
CO - Colombia 6
CY - Cipro 6
IL - Israele 6
JM - Giamaica 6
LK - Sri Lanka 6
PY - Paraguay 6
AZ - Azerbaigian 5
EE - Estonia 5
ET - Etiopia 5
EU - Europa 5
GR - Grecia 5
LV - Lettonia 5
NO - Norvegia 5
TT - Trinidad e Tobago 5
AO - Angola 4
GE - Georgia 4
HR - Croazia 4
KZ - Kazakistan 4
MK - Macedonia 4
NP - Nepal 4
NZ - Nuova Zelanda 4
PA - Panama 4
PS - Palestinian Territory 4
RO - Romania 4
UY - Uruguay 4
AM - Armenia 3
BY - Bielorussia 3
CR - Costa Rica 3
DK - Danimarca 3
DO - Repubblica Dominicana 3
GT - Guatemala 3
KG - Kirghizistan 3
LB - Libano 3
MD - Moldavia 3
PR - Porto Rico 3
RS - Serbia 3
SN - Senegal 3
BA - Bosnia-Erzegovina 2
BB - Barbados 2
BO - Bolivia 2
BW - Botswana 2
JO - Giordania 2
Totale 19.799
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Città #
Dallas 1.675
Southend 847
Dublin 722
Singapore 635
Ashburn 582
Moscow 559
San Jose 451
Milan 407
Santa Clara 379
Munich 360
Chandler 357
Fairfield 357
Hong Kong 325
Siena 321
Council Bluffs 254
Hefei 233
Beijing 215
Los Angeles 208
Helsinki 207
Woodbridge 170
Seattle 167
Ho Chi Minh City 165
Seoul 161
Rome 153
Houston 152
New York 151
Wilmington 147
Cambridge 144
Ann Arbor 139
Florence 126
Hanoi 120
Jacksonville 96
Lauterbourg 96
Johannesburg 92
Princeton 89
The Dalles 69
Menlo Park 58
São Paulo 57
Turku 53
Chicago 52
Shanghai 51
Columbus 50
Dong Ket 46
Boardman 45
Buffalo 43
Nuremberg 41
Abidjan 39
Brescia 39
Warsaw 39
Málaga 38
Orem 38
London 37
Frankfurt am Main 35
Tokyo 34
Bengaluru 32
Da Nang 32
Nanjing 32
San Diego 32
Chennai 30
Dearborn 28
Washington 27
Lappeenranta 26
Naples 25
Phoenix 25
San Mateo 25
Denver 24
Düsseldorf 24
Paris 24
Redondo Beach 24
Figino 23
Brussels 21
Stockholm 21
Toronto 21
Aachen 20
Brno 20
Haiphong 20
Montreal 20
Abuja 19
Bologna 19
Brooklyn 19
Izmir 19
Boston 18
Portsmouth 18
Fremont 17
Hải Dương 17
Tashkent 17
Amsterdam 16
Baghdad 16
San Francisco 16
Berlin 15
Changsha 15
Piscataway 15
Atlanta 14
Maastricht 14
Newark 14
Rio de Janeiro 14
Turin 14
Vienna 14
City of London 12
Shenyang 12
Totale 13.066
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Nome #
A first update on mapping the human genetic architecture of COVID-19 601
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 592
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 533
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 508
Genetic mechanisms of critical illness in COVID-19 451
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 440
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 411
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 397
Evidence of predisposing epimutation in retinoblastoma 387
An explainable model of host genetic interactions linked to COVID-19 severity 386
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 382
Pathogen-sugar interactions revealed by universal saturation transfer analysis 373
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 356
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 355
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 329
Alport syndrome: impact of digenic inheritance in patients management 327
A new mutation in DNM2 gene in a large Italian family 327
Mapping the human genetic architecture of COVID-19 325
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 319
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 313
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 302
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 298
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 284
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 268
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 260
U1snRNP regulates gene expression and modulates oncogenicity 258
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 252
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 249
Non-collagen genes role in digenic Alport syndrome 249
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 248
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 243
Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases 237
Exploiting the potential of next-generation sequencing in genomic medicine 236
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 234
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 229
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 224
AUTS2-related syndrome: Insights from a large European cohort 221
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 218
Whole-genome sequencing reveals host factors underlying critical COVID-19 217
WES profiling of COVID-19 215
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 207
Clinical and molecular characterization of COVID-19 hospitalized patients 206
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation 205
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant 204
Digenic Alport Syndrome 200
marcatore biologico per l'atrofia muscolare spinale. 200
New candidates for autism/intellectual disability identified by whole-exome sequencing 198
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 196
Natural history of KBG syndrome in a large European cohort 191
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 190
An Italian family carrying a new mutation in the COL4A1 gene 185
null 182
Altered expression of RXFP1 receptor contributes to the inefficacy of relaxin-based anti-fibrotic treatments in systemic sclerosis 178
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy 177
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 176
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 174
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 173
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 172
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 169
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 163
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 160
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1 158
Argl6gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis. 156
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 155
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients 148
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 141
null 140
Correction: The 2019 and 2021 International workshops on Alport syndrome 135
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 134
The 2019 and 2021 International Workshops on Alport Syndrome 130
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 124
null 120
Arg16gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis 119
Clinical, molecular and glycophenotype insights in SLC39A8-CDG 118
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 118
null 115
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 114
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) 112
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals 109
U1 snRNP regulates cancer cell migration and invasion in vitro 104
null 102
null 94
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology 89
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 88
U1 snRNP determines mRNA length and regulates isoform expression. 87
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility 87
U1 snRNP determines mRNA length and regulates isoform expression 82
U1 snRNP telescripting regulates a size-function-stratified human genome 78
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. 34
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 22
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 21
Retinoblastoma (hereditary predisposition) 19
Totale 20.213
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Categoria #
all - tutte 63.230
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 63.230
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022921 0 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
2025/20269.066 618 1.239 1.322 1.125 1.592 304 1.086 256 322 469 285 448
2026/2027571 418 153 0 0 0 0 0 0 0 0 0 0
Totale 20.213