IRIS
ORCESI, SIMONA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 4.983
AS - Asia 3.469
EU - Europa 2.599
SA - Sud America 652
AF - Africa 190
OC - Oceania 18
Continente sconosciuto - Info sul continente non disponibili 5
AN - Antartide 1
Totale 11.917
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 4.842
SG - Singapore 1.088
CN - Cina 1.046
IE - Irlanda 784
BR - Brasile 520
HK - Hong Kong 463
RU - Federazione Russa 415
VN - Vietnam 350
DE - Germania 279
IT - Italia 234
FI - Finlandia 211
FR - Francia 162
GB - Regno Unito 138
ZA - Sudafrica 112
IN - India 103
JP - Giappone 79
UA - Ucraina 75
SE - Svezia 68
CA - Canada 64
AR - Argentina 50
BD - Bangladesh 49
IQ - Iraq 48
MX - Messico 42
BE - Belgio 41
ES - Italia 35
PK - Pakistan 35
NL - Olanda 29
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
SA - Arabia Saudita 15
VE - Venezuela 15
AU - Australia 14
ID - Indonesia 14
MU - Mauritius 13
AE - Emirati Arabi Uniti 12
BO - Bolivia 10
DZ - Algeria 10
KG - Kirghizistan 10
IL - Israele 9
KE - Kenya 9
MY - Malesia 9
CL - Cile 8
JO - Giordania 8
LT - Lituania 8
PT - Portogallo 8
TN - Tunisia 8
KZ - Kazakistan 7
PY - Paraguay 7
CR - Costa Rica 6
KR - Corea 6
AZ - Azerbaigian 5
CH - Svizzera 5
EG - Egitto 5
IR - Iran 5
JM - Giamaica 5
TW - Taiwan 5
AM - Armenia 4
GR - Grecia 4
HN - Honduras 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
BY - Bielorussia 2
CI - Costa d'Avorio 2
CY - Cipro 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
AQ - Antartide 1
BA - Bosnia-Erzegovina 1
Totale 11.890
Salva come PNG Salva come JPEG
Città #
Dublin 782
Chandler 774
Singapore 638
Ashburn 549
San Jose 475
Hong Kong 451
Dallas 315
Beijing 296
Boardman 186
Los Angeles 157
New York 143
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
Moscow 61
Redondo Beach 61
São Paulo 55
Buffalo 49
The Dalles 42
Brussels 40
Washington 40
Milan 38
Orem 38
Turku 38
Nuremberg 37
Pavia 35
Chicago 34
Nanchang 34
Santa Clara 34
Rome 32
Jiaxing 28
Shenyang 28
Brooklyn 26
Warsaw 26
Atlanta 25
Denver 25
Frankfurt am Main 25
Montreal 25
Fairfield 24
Falls Church 24
Da Nang 23
Falkenstein 23
Seattle 23
Hebei 22
Poplar 22
Chennai 21
Mexico City 21
Tianjin 21
Boston 20
Columbus 20
London 20
Norwalk 20
Rio de Janeiro 20
Tashkent 20
Haiphong 19
Changsha 18
San Francisco 18
Amsterdam 17
Baghdad 17
Guangzhou 17
Stockholm 16
Toronto 16
Woodbridge 16
Piscataway 15
Lahore 14
Des Moines 13
Hangzhou 13
Phoenix 13
Pune 13
Vienna 12
New Delhi 11
Zhengzhou 11
Belo Horizonte 10
Quito 10
Curitiba 9
Houston 9
Jeddah 9
Manchester 9
Bishkek 8
Brasília 8
Brno 8
Buenos Aires 8
Charlotte 8
Lodi 8
Olomouc 8
Ankara 7
Campinas 7
Council Bluffs 7
Totale 7.892
Salva come PNG Salva come JPEG
Nome #
A global perspective on parental stress in the neonatal intensive care unit: a meta-analytic study 148
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 144
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 144
Risk and protective factors in maternal–fetal attachment development 137
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing 133
An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder 132
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 131
Dystrophinopathies: peculiar clinical and laboratory aspects 130
Altered PLP1 splicing causes hypomyelination of early myelinating structures 127
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 126
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 124
Depressive symptoms and maternal psychological distress during early infancy: A pilot study in preterm as compared with term mother–infant dyads 122
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings 120
Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma 118
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 115
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers. 113
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 113
Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial 112
Cortical malformations and COL4A1 mutation: Three new cases 111
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction 111
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome 110
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients 109
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations 109
Near-Infrared Spectroscopy Monitoring, Superior Vena Cava Flow, and Neurodevelopmental Outcome at 2 years in a Cohort of Very Low-Birth-Weight Infants 108
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 108
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period 108
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 107
Body composition and energy expenditure in Duchenne muscular dystrophy 106
Patient-reported outcomes measure for children born preterm: Validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool 106
Valutazione quantitativa mediante MR della composizione coroprea in pazienti affetti da distrofia muscolare di Duchenne 105
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report 104
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 103
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 102
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 102
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies 101
Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): Study protocol for a multicentric longitudinal project 101
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 100
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study 100
Developmental Outcomes of Aicardi Goutières Syndrome 99
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up 98
The Mother-Child Relationship during the First Months of Life: Preliminary Considerations in Preterm as Compared with Term Mother-Infant Dyads 97
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients 97
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features 97
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 96
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 95
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 95
Placental Histological Features and Neurodevelopmental Outcomes at Two Years in Very-Low-Birth-Weight Infants 94
Complexity of parental prenatal attachment during pregnancy at risk for preterm delivery 93
Novel and emerging treatments for Aicardi-Goutières syndrome 93
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 93
Is Brain-Derived Neurotropic Factor Methylation Involved in the Association Between Prenatal Stress and Maternal Postnatal Anxiety During the COVID-19 Pandemic? 92
Spinal cord calcification in an early-onset progressive leukoencephalopathy. 92
Effect of maternal psychopathology on neurodevelopmental outcome and quality of the dyadic relationship in preterm infants: an explorative study 92
Development of a neurologic severity scale for Aicardi Goutières Syndrome 92
Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome 91
Obstetric risk factors and time trends of neurodevelopmental outcome at 2 years in very-low-birthweight infants: A single institution study 90
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 89
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy 89
Early Parenting Intervention-Biobehavioral Outcomes in infants with Neurodevelopmental Disabilities (EPI-BOND): Study protocol for an Italian multicentre randomised controlled trial 89
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications 88
Calcifying leukoencephalopathies: new overlapping phenotypes 88
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis 88
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 87
Challenges and opportunities for early intervention and neurodevelopmental follow-up in preterm infants during the COVID-19 pandemic 87
Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation 87
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome 86
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 86
Cerebral cavernous angiomas: an atypical case in infancy 86
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers. 86
Commentary on “Catatonia in a Patient with Aicardi-Goutières Syndrome Efficiently Treated with Immunoadsorption” 86
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
Early parenting intervention promotes 24-month psychomotor development in preterm children 84
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1 84
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 84
Neurodevelopmental outcome of Italian preterm ELBW infants: an eleven years single center cohort 83
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. 82
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome 82
Diagnostic yield and cost-effectiveness of “dynamic” exome analysis in epilepsy with neurodevelopmental disorders: A tertiary-center experience in Northern Italy 82
Valutazione dei consumi alimentari e del dispendio energetico in bambini affetti da distrofia muscolare di Duchenne 81
Differential diagnosis of abusive Head Trauma In Children: two case reports and review of the literature 80
Post-partum Women’s Anxiety and Parenting Stress: Home-Visiting Protective Effect During the COVID-19 Pandemic 80
Fate of melatonin orally administered in preterm newborns: Antioxidant performance and basis for neuroprotection 80
Type I hyperprolinemia: genotype/phenotype correlations 79
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome 79
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling 78
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 77
Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders 77
Neurodevelopmental outcome at 5-7 years in preterm infants with periventricular leukomalacia 77
Ruxolitinib in Aicardi-Goutières syndrome 77
Masked or not, I smile to you: Exploring full-term and preterm infants{'} social smiles to adults wearing a protective facemask 76
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition 76
Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis 75
New molecular findings in congenital myopathies due to selenoprotein N gene mutations 75
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 75
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy 75
Typing TREX1 gene in patients with systemic lupus erythematosus 74
Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants’ temperament at 3 months 74
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease 73
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi–Goutières syndrome patients carrying RNASEH2 mutations 73
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 72
Totale 9.666
Salva come PNG Salva come JPEG
Categoria #
all - tutte 52.848
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 52.848
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202163 0 0 0 0 0 0 0 0 0 23 24 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
2025/20264.989 439 323 529 630 714 294 1.017 256 458 329 0 0
Totale 12.084