IRIS
ORCESI, SIMONA
 Distribuzione geografica
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Continente #
NA - Nord America 5.293
AS - Asia 3.543
EU - Europa 2.614
SA - Sud America 654
AF - Africa 190
OC - Oceania 18
Continente sconosciuto - Info sul continente non disponibili 5
AN - Antartide 1
Totale 12.318
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Nazione #
US - Stati Uniti d'America 5.142
SG - Singapore 1.123
CN - Cina 1.066
IE - Irlanda 784
BR - Brasile 521
HK - Hong Kong 468
RU - Federazione Russa 415
VN - Vietnam 350
DE - Germania 279
IT - Italia 247
FI - Finlandia 211
FR - Francia 162
GB - Regno Unito 139
ZA - Sudafrica 112
IN - India 104
JP - Giappone 80
UA - Ucraina 75
CA - Canada 69
SE - Svezia 68
BD - Bangladesh 58
AR - Argentina 50
IQ - Iraq 49
MX - Messico 43
BE - Belgio 41
ES - Italia 35
PK - Pakistan 35
NL - Olanda 30
AT - Austria 28
PL - Polonia 28
TR - Turchia 26
UZ - Uzbekistan 23
EC - Ecuador 19
PH - Filippine 19
CZ - Repubblica Ceca 18
CO - Colombia 17
MA - Marocco 16
ID - Indonesia 15
SA - Arabia Saudita 15
VE - Venezuela 15
AU - Australia 14
AE - Emirati Arabi Uniti 13
MU - Mauritius 13
BO - Bolivia 10
DZ - Algeria 10
KG - Kirghizistan 10
CL - Cile 9
IL - Israele 9
KE - Kenya 9
MY - Malesia 9
JO - Giordania 8
LT - Lituania 8
PT - Portogallo 8
TN - Tunisia 8
CR - Costa Rica 7
KZ - Kazakistan 7
PY - Paraguay 7
KR - Corea 6
AZ - Azerbaigian 5
CH - Svizzera 5
EG - Egitto 5
HN - Honduras 5
IR - Iran 5
JM - Giamaica 5
TW - Taiwan 5
AM - Armenia 4
GR - Grecia 4
LB - Libano 4
MD - Moldavia 4
OM - Oman 4
PA - Panama 4
PE - Perù 4
RO - Romania 4
TH - Thailandia 4
AL - Albania 3
DK - Danimarca 3
GT - Guatemala 3
KW - Kuwait 3
LA - Repubblica Popolare Democratica del Laos 3
LY - Libia 3
NI - Nicaragua 3
AO - Angola 2
BB - Barbados 2
BY - Bielorussia 2
CI - Costa d'Avorio 2
CY - Cipro 2
DM - Dominica 2
ET - Etiopia 2
EU - Europa 2
GE - Georgia 2
LU - Lussemburgo 2
LV - Lettonia 2
NP - Nepal 2
NR - Nauru 2
PR - Porto Rico 2
PS - Palestinian Territory 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
UY - Uruguay 2
XK - ???statistics.table.value.countryCode.XK??? 2
A2 - ???statistics.table.value.countryCode.A2??? 1
Totale 12.291
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Città #
Dublin 782
Chandler 774
Singapore 646
San Jose 607
Ashburn 581
Hong Kong 455
Dallas 321
Beijing 301
Boardman 189
Los Angeles 160
New York 153
Helsinki 134
Ho Chi Minh City 123
Lauterbourg 123
Princeton 116
Lawrence 115
Medford 114
Munich 110
Wilmington 101
Johannesburg 93
Jacksonville 91
Shanghai 83
Hanoi 82
Nanjing 76
Tokyo 76
Ann Arbor 67
Council Bluffs 62
Moscow 61
Redondo Beach 61
São Paulo 55
Buffalo 51
The Dalles 42
Milan 41
Washington 41
Brussels 40
Orem 39
Santa Clara 38
Turku 38
Nuremberg 37
Chicago 35
Pavia 35
Nanchang 34
Rome 33
Denver 28
Jiaxing 28
Shenyang 28
Brooklyn 27
Atlanta 26
Montreal 26
Warsaw 26
Frankfurt am Main 25
Fairfield 24
Falls Church 24
Da Nang 23
Falkenstein 23
Seattle 23
Hebei 22
Mexico City 22
Poplar 22
Boston 21
Chennai 21
Tianjin 21
Columbus 20
London 20
Norwalk 20
Rio de Janeiro 20
Tashkent 20
Haiphong 19
San Francisco 19
Baghdad 18
Changsha 18
Toronto 18
Amsterdam 17
Guangzhou 17
Stockholm 16
Woodbridge 16
Piscataway 15
Hangzhou 14
Lahore 14
Phoenix 14
Des Moines 13
Pune 13
Vienna 12
Zhengzhou 12
New Delhi 11
Belo Horizonte 10
Houston 10
Quito 10
Charlotte 9
Curitiba 9
Jeddah 9
Manchester 9
Bishkek 8
Brasília 8
Brno 8
Buenos Aires 8
Lodi 8
Olomouc 8
Ankara 7
Campinas 7
Totale 8.180
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Nome #
A global perspective on parental stress in the neonatal intensive care unit: a meta-analytic study 157
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 149
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 146
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 142
Risk and protective factors in maternal–fetal attachment development 139
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing 137
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 135
An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder 134
Dystrophinopathies: peculiar clinical and laboratory aspects 131
Altered PLP1 splicing causes hypomyelination of early myelinating structures 130
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 126
Depressive symptoms and maternal psychological distress during early infancy: A pilot study in preterm as compared with term mother–infant dyads 125
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 123
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings 122
Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma 119
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 117
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers. 116
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction 116
Cortical malformations and COL4A1 mutation: Three new cases 115
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome 114
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations 114
Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial 113
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 112
Body composition and energy expenditure in Duchenne muscular dystrophy 111
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period 111
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients 110
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 110
Near-Infrared Spectroscopy Monitoring, Superior Vena Cava Flow, and Neurodevelopmental Outcome at 2 years in a Cohort of Very Low-Birth-Weight Infants 109
Patient-reported outcomes measure for children born preterm: Validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool 108
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report 107
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 106
Valutazione quantitativa mediante MR della composizione coroprea in pazienti affetti da distrofia muscolare di Duchenne 105
Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene 105
Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): Study protocol for a multicentric longitudinal project 104
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 103
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies 102
Developmental Outcomes of Aicardi Goutières Syndrome 102
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 101
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study 101
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up 100
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features 100
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 99
Placental Histological Features and Neurodevelopmental Outcomes at Two Years in Very-Low-Birth-Weight Infants 99
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients 98
Spinal cord calcification in an early-onset progressive leukoencephalopathy. 97
The Mother-Child Relationship during the First Months of Life: Preliminary Considerations in Preterm as Compared with Term Mother-Infant Dyads 97
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 97
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis 97
Is Brain-Derived Neurotropic Factor Methylation Involved in the Association Between Prenatal Stress and Maternal Postnatal Anxiety During the COVID-19 Pandemic? 96
Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome 96
Complexity of parental prenatal attachment during pregnancy at risk for preterm delivery 96
Novel and emerging treatments for Aicardi-Goutières syndrome 96
Depression and Anxiety in Mothers Who Were Pregnant During the COVID-19 Outbreak in Northern Italy: The Role of Pandemic-Related Emotional Stress and Perceived Social Support 96
Effect of maternal psychopathology on neurodevelopmental outcome and quality of the dyadic relationship in preterm infants: an explorative study 95
Development of a neurologic severity scale for Aicardi Goutières Syndrome 94
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 94
Early Parenting Intervention-Biobehavioral Outcomes in infants with Neurodevelopmental Disabilities (EPI-BOND): Study protocol for an Italian multicentre randomised controlled trial 93
Fate of melatonin orally administered in preterm newborns: Antioxidant performance and basis for neuroprotection 92
Obstetric risk factors and time trends of neurodevelopmental outcome at 2 years in very-low-birthweight infants: A single institution study 91
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 90
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications 90
Neurodevelopmental outcome of Italian preterm ELBW infants: an eleven years single center cohort 89
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy 89
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome 88
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 88
Calcifying leukoencephalopathies: new overlapping phenotypes 88
Challenges and opportunities for early intervention and neurodevelopmental follow-up in preterm infants during the COVID-19 pandemic 88
Commentary on “Catatonia in a Patient with Aicardi-Goutières Syndrome Efficiently Treated with Immunoadsorption” 88
Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation 88
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 87
Cerebral cavernous angiomas: an atypical case in infancy 87
Early parenting intervention promotes 24-month psychomotor development in preterm children 87
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers. 87
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1 85
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 85
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study 84
Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature 84
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome 83
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. 82
Diagnostic yield and cost-effectiveness of “dynamic” exome analysis in epilepsy with neurodevelopmental disorders: A tertiary-center experience in Northern Italy 82
Differential diagnosis of abusive Head Trauma In Children: two case reports and review of the literature 81
Post-partum Women’s Anxiety and Parenting Stress: Home-Visiting Protective Effect During the COVID-19 Pandemic 81
Valutazione dei consumi alimentari e del dispendio energetico in bambini affetti da distrofia muscolare di Duchenne 81
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome 81
New molecular findings in congenital myopathies due to selenoprotein N gene mutations 80
Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders 80
Type I hyperprolinemia: genotype/phenotype correlations 80
Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis 79
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling 79
Neurodevelopmental outcome at 5-7 years in preterm infants with periventricular leukomalacia 79
Ruxolitinib in Aicardi-Goutières syndrome 78
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 77
Masked or not, I smile to you: Exploring full-term and preterm infants{'} social smiles to adults wearing a protective facemask 77
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 76
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition 76
Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants’ temperament at 3 months 76
Typing TREX1 gene in patients with systemic lupus erythematosus 75
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy 75
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease 75
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 74
Totale 9.929
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Categoria #
all - tutte 56.513
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 56.513
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202116 0 0 0 0 0 0 0 0 0 0 0 16
2021/2022567 4 4 11 6 17 26 8 33 40 18 81 319
2022/20232.082 200 144 22 194 168 206 0 120 938 17 59 14
2023/20241.018 84 166 73 54 76 278 35 55 5 42 59 91
2024/20252.626 75 159 58 86 90 218 181 142 624 143 321 529
2025/20265.395 439 323 529 630 714 294 1.017 256 458 394 235 106
Totale 12.490