IRIS
PINTO, ANNA MARIA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 4.241
NA - Nord America 3.131
AS - Asia 576
SA - Sud America 62
AF - Africa 40
OC - Oceania 19
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.070
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 3.113
IT - Italia 1.149
GB - Regno Unito 876
IE - Irlanda 710
DE - Germania 309
RU - Federazione Russa 306
SE - Svezia 273
CN - Cina 244
FI - Finlandia 152
SG - Singapore 146
FR - Francia 145
UA - Ucraina 119
BR - Brasile 52
ES - Italia 52
VN - Vietnam 48
CI - Costa d'Avorio 32
NL - Olanda 30
IN - India 25
BE - Belgio 24
CZ - Repubblica Ceca 24
TR - Turchia 24
IR - Iran 21
AT - Austria 15
AU - Australia 15
CA - Canada 15
HK - Hong Kong 12
CH - Svizzera 7
BG - Bulgaria 6
PK - Pakistan 6
PL - Polonia 6
LK - Sri Lanka 5
PH - Filippine 5
AE - Emirati Arabi Uniti 4
JP - Giappone 4
LV - Lettonia 4
MK - Macedonia 4
NZ - Nuova Zelanda 4
PT - Portogallo 4
AL - Albania 3
AZ - Azerbaigian 3
CL - Cile 3
CY - Cipro 3
DK - Danimarca 3
GR - Grecia 3
KR - Corea 3
LT - Lituania 3
MA - Marocco 3
RO - Romania 3
UZ - Uzbekistan 3
ZA - Sudafrica 3
AM - Armenia 2
AR - Argentina 2
BA - Bosnia-Erzegovina 2
BY - Bielorussia 2
EC - Ecuador 2
HR - Croazia 2
HU - Ungheria 2
IL - Israele 2
KG - Kirghizistan 2
MY - Malesia 2
QA - Qatar 2
TM - Turkmenistan 2
BD - Bangladesh 1
DZ - Algeria 1
EE - Estonia 1
EG - Egitto 1
EU - Europa 1
GE - Georgia 1
ID - Indonesia 1
IQ - Iraq 1
IS - Islanda 1
JM - Giamaica 1
KH - Cambogia 1
LA - Repubblica Popolare Democratica del Laos 1
LU - Lussemburgo 1
MX - Messico 1
PA - Panama 1
PE - Perù 1
SA - Arabia Saudita 1
TW - Taiwan 1
UY - Uruguay 1
VE - Venezuela 1
Totale 8.070
Salva come PNG Salva come JPEG
Città #
Southend 820
Dublin 694
Fairfield 343
Chandler 341
Santa Clara 303
Siena 283
Ashburn 268
Woodbridge 166
Seattle 145
Wilmington 144
Cambridge 143
Ann Arbor 133
Houston 132
Helsinki 125
Milan 125
Munich 123
Singapore 98
Florence 93
Jacksonville 93
Princeton 85
New York 72
Menlo Park 58
Beijing 55
Rome 48
Dong Ket 46
Shanghai 44
Málaga 37
Boardman 35
Los Angeles 33
Abidjan 32
Nanjing 32
Dearborn 28
Nuremberg 28
San Diego 26
Moscow 25
San Mateo 25
Brescia 24
Washington 20
Aachen 19
Brno 19
Brussels 19
Izmir 18
London 15
Chicago 13
Fremont 12
Council Bluffs 11
Hong Kong 11
Redwood City 11
Shenyang 11
Comun Nuovo 10
Piscataway 10
Toronto 9
Carrara 8
Dallas 8
Hyderabad 8
Vienna 8
Changsha 7
Empoli 7
Frankfurt am Main 7
Naples 7
Norwalk 7
Paris 7
Perth 7
Anagni 6
Campi Bisenzio 6
Falls Church 6
Jinan 6
Nanchang 6
Newark 6
Pisa 6
Rubano 6
San Francisco 6
Sesto Fiorentino 6
Sofia 6
Venezia 6
Zhengzhou 6
Bergamo 5
Brindisi 5
Catanzaro 5
Colombo 5
Espoo 5
Guangzhou 5
Hebei 5
Lappeenranta 5
Mestre 5
Migliarino 5
Salerno 5
Tehran 5
Zanjan 5
Bologna 4
Casalecchio di Reno 4
Catania 4
Columbus 4
Fiesole 4
Madison 4
Melbourne 4
Napoli 4
Ningbo 4
Padova 4
Ponte 4
Totale 5.781
Salva come PNG Salva come JPEG
Nome #
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 286
Evidence of predisposing epimutation in retinoblastoma 273
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 255
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 224
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 220
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 211
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 209
Alport syndrome: impact of digenic inheritance in patients management 204
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 203
Non-collagen genes role in digenic Alport syndrome 189
U1snRNP regulates gene expression and modulates oncogenicity 185
null 182
A new mutation in DNM2 gene in a large Italian family 182
Exploiting the potential of next-generation sequencing in genomic medicine 180
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 178
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 172
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 166
marcatore biologico per l'atrofia muscolare spinale. 148
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 148
Mapping the human genetic architecture of COVID-19 147
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 145
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 145
null 140
A first update on mapping the human genetic architecture of COVID-19 138
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 136
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 134
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 128
Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases 125
null 120
null 115
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients 113
An explainable model of host genetic interactions linked to COVID-19 severity 110
WES profiling of COVID-19 108
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1 107
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 102
null 102
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 102
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 100
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 97
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation 95
null 94
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 94
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 91
Clinical and molecular characterization of COVID-19 hospitalized patients 89
Natural history of KBG syndrome in a large European cohort 88
Argl6gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis. 80
An Italian family carrying a new mutation in the COL4A1 gene 80
Exome sequencing in 200 intellectual disability/autistic patients: new candidates and atypical presentations 80
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 72
New candidates for autism/intellectual disability identified by whole-exome sequencing 72
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 66
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 60
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 58
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 56
Digenic Alport Syndrome 54
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 51
null 51
Altered expression of RXFP1 receptor contributes to the inefficacy of relaxin-based anti-fibrotic treatments in systemic sclerosis 47
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy 47
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. 47
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 47
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 45
Altered expression of RXFP1 receptor contributes to the inefficacy of relaxin-based anti-fibrotic treatments in systemic sclerosis 45
null 45
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 41
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 36
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology 36
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) 35
Arg16gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis 32
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 31
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 27
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 26
U1 snRNP regulates cancer cell migration and invasion in vitro 26
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant 23
The 2019 and 2021 International Workshops on Alport Syndrome 23
U1 snRNP telescripting regulates a size-function-stratified human genome 20
U1 snRNP determines mRNA length and regulates isoform expression. 20
U1 snRNP determines mRNA length and regulates isoform expression 20
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 19
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 16
Correction: The 2019 and 2021 International workshops on Alport syndrome 15
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 14
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. 13
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility 12
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals 11
Clinical, molecular and glycophenotype insights in SLC39A8-CDG 9
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 8
Whole-genome sequencing reveals host factors underlying critical COVID-19 6
Retinoblastoma (hereditary predisposition) 5
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 4
null 1
Totale 8.412
Salva come PNG Salva come JPEG
Categoria #
all - tutte 34.799
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 34.799
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020348 0 0 0 0 0 0 0 112 87 75 24 50
2020/20211.176 35 73 38 60 78 122 115 129 110 184 110 122
2021/2022905 74 86 60 69 46 42 40 35 61 78 111 203
2022/20231.445 70 131 145 148 123 272 193 137 81 57 63 25
2023/20241.410 57 45 153 79 64 338 410 56 8 56 42 102
2024/20251.742 102 120 355 188 363 230 221 163 0 0 0 0
Totale 8.412