IRIS
PINTO, ANNA MARIA
 Distribuzione geografica
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Continente #
EU - Europa 3.739
NA - Nord America 2.895
AS - Asia 354
OC - Oceania 18
SA - Sud America 6
Continente sconosciuto - Info sul continente non disponibili 5
Totale 7.017
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Nazione #
US - Stati Uniti d'America 2.885
IT - Italia 983
GB - Regno Unito 923
IE - Irlanda 834
SE - Svezia 296
CN - Cina 203
DE - Germania 168
FR - Francia 164
UA - Ucraina 122
FI - Finlandia 118
ES - Italia 58
VN - Vietnam 46
TR - Turchia 24
IN - India 23
BE - Belgio 22
IR - Iran 19
AU - Australia 15
NL - Olanda 13
CA - Canada 10
HK - Hong Kong 10
RU - Federazione Russa 10
CH - Svizzera 7
PL - Polonia 6
EU - Europa 5
PH - Filippine 5
PK - Pakistan 5
JP - Giappone 4
MK - Macedonia 4
KR - Corea 3
NZ - Nuova Zelanda 3
CL - Cile 2
CY - Cipro 2
GR - Grecia 2
IL - Israele 2
MY - Malesia 2
PT - Portogallo 2
QA - Qatar 2
RO - Romania 2
AL - Albania 1
AR - Argentina 1
AZ - Azerbaigian 1
BR - Brasile 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
EE - Estonia 1
ID - Indonesia 1
LK - Sri Lanka 1
LT - Lituania 1
PE - Perù 1
TW - Taiwan 1
VE - Venezuela 1
Totale 7.017
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Città #
Southend 868
Dublin 815
Chandler 374
Fairfield 358
Ashburn 314
Siena 251
Woodbridge 170
Seattle 150
Wilmington 149
Cambridge 146
Ann Arbor 144
Houston 136
Helsinki 98
Jacksonville 93
New York 92
Princeton 92
Florence 89
Menlo Park 58
Beijing 51
Milan 47
Málaga 47
Dong Ket 46
Shanghai 46
Rome 43
Nanjing 32
San Diego 31
Dearborn 28
Washington 27
Boardman 26
San Mateo 26
Aachen 22
Los Angeles 19
Izmir 18
Brussels 17
Fremont 17
London 14
Brescia 12
Redwood City 11
Shenyang 11
Comun Nuovo 10
Brindisi 9
Hyderabad 9
Chicago 8
Hong Kong 8
Norwalk 8
Carrara 7
Changsha 7
Empoli 7
Perth 7
Falls Church 6
Grosseto 6
Jinan 6
Nanchang 6
Paris 6
Rubano 6
San Francisco 6
Sesto Fiorentino 6
Toronto 6
Venezia 6
Zanjan 6
Bergamo 5
Dallas 5
Gdynia 5
Hebei 5
Mestre 5
Naples 5
Pune 5
Salerno 5
Verona 5
Zhengzhou 5
Casalecchio di Reno 4
Catania 4
Fiesole 4
Guangzhou 4
Melbourne 4
Napoli 4
Ningbo 4
Padova 4
Phoenix 4
Ponte 4
Rieti 4
Saint-Fons 4
Statte 4
Waanrode 4
Amsterdam 3
Arese 3
Basel 3
Bologna 3
Bonndorf 3
Borgonovo Val Tidone 3
Düsseldorf 3
Falkenstein 3
Ferrara di Monte Baldo 3
Genova 3
Guagnano 3
Lancaster 3
Lappeenranta 3
Lentate sul Seveso 3
Madison 3
Massa 3
Totale 5.288
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Nome #
Evidence of predisposing epimutation in retinoblastoma 239
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 236
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 204
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 192
Alport syndrome: impact of digenic inheritance in patients management 189
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 187
null 182
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 179
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 176
Non-collagen genes role in digenic Alport syndrome 175
U1snRNP regulates gene expression and modulates oncogenicity 172
Genetic mechanisms of critical illness in COVID-19 171
null 170
Exploiting the potential of next-generation sequencing in genomic medicine 166
A new mutation in DNM2 gene in a large Italian family 161
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 150
null 140
marcatore biologico per l'atrofia muscolare spinale. 135
null 134
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 130
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 128
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 126
null 120
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 119
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 118
null 115
null 114
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males. 110
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. 107
Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases 107
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. 103
null 102
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 98
null 94
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 90
Mapping the human genetic architecture of COVID-19 90
Pathogen-sugar interactions revealed by universal saturation transfer analysis 83
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation 83
WES profiling of COVID-19 81
A first update on mapping the human genetic architecture of COVID-19 80
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome 80
null 75
Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes 75
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 73
Argl6gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis. 71
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation 71
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 69
An explainable model of host genetic interactions linked to COVID-19 severity 68
An Italian family carrying a new mutation in the COL4A1 gene 67
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy 63
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 62
Exome sequencing in 200 intellectual disability/autistic patients: New candidates and atypical presentations 60
Natural history of KBG syndrome in a large European cohort 59
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing 51
null 48
null 45
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 38
Whole-genome sequencing reveals host factors underlying critical COVID-19 38
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 35
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 34
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 32
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy 31
Altered expression of RXFP1 receptor contributes to the inefficacy of relaxin-based anti-fibrotic treatments in systemic sclerosis 31
Digenic Alport Syndrome 29
Altered expression of RXFP1 receptor contributes to the inefficacy of relaxin-based anti-fibrotic treatments in systemic sclerosis 28
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 28
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. 28
Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis 28
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing. 27
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations. 27
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 27
Clinical and molecular characterization of COVID-19 hospitalized patients 26
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology 26
null 23
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) 19
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 17
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 15
Arg16gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis 15
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 14
U1 snRNP regulates cancer cell migration and invasion in vitro 12
U1 snRNP determines mRNA length and regulates isoform expression 12
U1 snRNP determines mRNA length and regulates isoform expression. 10
U1 snRNP telescripting regulates a size-function-stratified human genome 9
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. 8
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 7
Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation 6
The 2019 and 2021 International Workshops on Alport Syndrome 6
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 5
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 4
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 3
Retinoblastoma (hereditary predisposition) 2
Clinical, molecular and glycophenotype insights in SLC39A8-CDG 2
null 1
Totale 7.296
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Categoria #
all - tutte 26.190
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 26.190
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019279 0 0 0 0 0 0 0 0 0 0 165 114
2019/2020885 99 33 54 123 69 78 81 112 87 75 24 50
2020/20211.243 40 74 42 66 78 125 117 135 124 193 121 128
2021/20221.070 102 90 68 81 52 53 54 52 70 84 132 232
2022/20231.663 83 151 162 164 136 285 212 176 118 70 71 35
2023/20241.586 70 62 198 111 76 414 500 78 9 67 1 0
Totale 7.296