ORCESI, SIMONA
 Distribuzione geografica
Continente #
NA - Nord America 5.568
AS - Asia 3.583
EU - Europa 2.666
SA - Sud America 667
AF - Africa 191
Continente sconosciuto - Info sul continente non disponibili 182
OC - Oceania 18
AN - Antartide 1
Totale 12.876
Nazione #
US - Stati Uniti d'America 5.399
SG - Singapore 1.131
CN - Cina 1.075
IE - Irlanda 784
BR - Brasile 527
HK - Hong Kong 469
RU - Federazione Russa 415
VN - Vietnam 349
IT - Italia 287
DE - Germania 279
FI - Finlandia 211
FR - Francia 170
GB - Regno Unito 139
ZA - Sudafrica 112
IN - India 104
BD - Bangladesh 81
JP - Giappone 80
UA - Ucraina 75
CA - Canada 74
SE - Svezia 68
AR - Argentina 51
IQ - Iraq 49
MX - Messico 48
BE - Belgio 41
ES - Italia 35
PK - Pakistan 35
NL - Olanda 31
AT - Austria 28
PL - Polonia 28
TR - Turchia 26
UZ - Uzbekistan 22
EC - Ecuador 20
PH - Filippine 20
CO - Colombia 18
CZ - Repubblica Ceca 18
MA - Marocco 16
AE - Emirati Arabi Uniti 15
ID - Indonesia 15
SA - Arabia Saudita 15
VE - Venezuela 15
AU - Australia 14
MU - Mauritius 13
BO - Bolivia 11
DZ - Algeria 10
KG - Kirghizistan 10
CL - Cile 9
CR - Costa Rica 9
IL - Israele 9
KE - Kenya 9
MY - Malesia 9
PT - Portogallo 9
LT - Lituania 8
TN - Tunisia 8
JO - Giordania 7
KZ - Kazakistan 7
PY - Paraguay 7
EG - Egitto 6
HN - Honduras 6
JM - Giamaica 6
KR - Corea 6
PE - Perù 6
AZ - Azerbaigian 5
CH - Svizzera 5
IR - Iran 5
RO - Romania 5
TW - Taiwan 5
GR - Grecia 4
LB - Libano 4
MD - Moldavia 4
OM - Oman 4
PA - Panama 4
PR - Porto Rico 4
TH - Thailandia 4
AL - Albania 3
AM - Armenia 3
DK - Danimarca 3
GT - Guatemala 3
KW - Kuwait 3
LA - Repubblica Popolare Democratica del Laos 3
LY - Libia 3
NI - Nicaragua 3
UY - Uruguay 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
PS - Palestinian Territory 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
TT - Trinidad e Tobago 2
XK - ???statistics.table.value.countryCode.XK??? 2
Totale 12.670
Città #
Dublin 782
Chandler 774
Singapore 651
San Jose 609
Ashburn 590
Hong Kong 456
Dallas 322
Beijing 300
Council Bluffs 192
Boardman 189
Los Angeles 163
New York 153
Helsinki 134
Lauterbourg 123
Ho Chi Minh City 122
Princeton 116
Lawrence 115
Medford 114
Munich 110
Wilmington 101
Johannesburg 93
Jacksonville 91
Shanghai 84
Hanoi 83
Nanjing 76
Tokyo 76
Ann Arbor 67
Moscow 61
Redondo Beach 61
Santa Clara 59
São Paulo 58
Buffalo 52
Milan 46
The Dalles 42
Washington 41
Brussels 40
Orem 38
Pavia 38
Turku 38
Nuremberg 37
Chicago 36
Rome 36
Columbus 35
Nanchang 35
Atlanta 29
Denver 29
Brooklyn 28
Jiaxing 28
Shenyang 28
Montreal 26
Warsaw 26
Frankfurt am Main 25
Fairfield 24
Falls Church 24
Mexico City 24
Da Nang 23
Falkenstein 23
Seattle 23
Hebei 22
Poplar 22
Boston 21
Chennai 21
Rio de Janeiro 21
Tianjin 21
Toronto 21
London 20
Norwalk 20
Tashkent 20
Haiphong 19
San Francisco 19
Baghdad 18
Changsha 18
Amsterdam 17
Guangzhou 17
Phoenix 17
Stockholm 16
Woodbridge 16
Piscataway 15
Hangzhou 14
Lahore 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
Turin 8
Ankara 7
Totale 8.398
Nome #
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 164
A global perspective on parental stress in the neonatal intensive care unit: a meta-analytic study 159
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 150
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 147
Risk and protective factors in maternal–fetal attachment development 144
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 144
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing 139
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 137
An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder 135
Dystrophinopathies: peculiar clinical and laboratory aspects 133
Altered PLP1 splicing causes hypomyelination of early myelinating structures 132
Depressive symptoms and maternal psychological distress during early infancy: A pilot study in preterm as compared with term mother–infant dyads 128
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 128
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings 124
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers. 120
Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma 120
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 119
Cortical malformations and COL4A1 mutation: Three new cases 117
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients 117
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction 117
Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial 116
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations 115
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome 114
Body composition and energy expenditure in Duchenne muscular dystrophy 113
Near-Infrared Spectroscopy Monitoring, Superior Vena Cava Flow, and Neurodevelopmental Outcome at 2 years in a Cohort of Very Low-Birth-Weight Infants 113
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 113
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period 112
Patient-reported outcomes measure for children born preterm: Validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool 111
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 111
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report 108
Valutazione quantitativa mediante MR della composizione coroprea in pazienti affetti da distrofia muscolare di Duchenne 107
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 107
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 107
Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): Study protocol for a multicentric longitudinal project 105
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies 104
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 104
Developmental Outcomes of Aicardi Goutières Syndrome 104
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 102
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study 102
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis 102
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 101
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up 101
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients 101
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features 101
Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome 100
Novel and emerging treatments for Aicardi-Goutières syndrome 100
Placental Histological Features and Neurodevelopmental Outcomes at Two Years in Very-Low-Birth-Weight Infants 100
Spinal cord calcification in an early-onset progressive leukoencephalopathy. 99
The Mother-Child Relationship during the First Months of Life: Preliminary Considerations in Preterm as Compared with Term Mother-Infant Dyads 99
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 99
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 99
Is Brain-Derived Neurotropic Factor Methylation Involved in the Association Between Prenatal Stress and Maternal Postnatal Anxiety During the COVID-19 Pandemic? 98
Effect of maternal psychopathology on neurodevelopmental outcome and quality of the dyadic relationship in preterm infants: an explorative study 98
Complexity of parental prenatal attachment during pregnancy at risk for preterm delivery 96
Early Parenting Intervention-Biobehavioral Outcomes in infants with Neurodevelopmental Disabilities (EPI-BOND): Study protocol for an Italian multicentre randomised controlled trial 96
Development of a neurologic severity scale for Aicardi Goutières Syndrome 96
Fate of melatonin orally administered in preterm newborns: Antioxidant performance and basis for neuroprotection 95
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 95
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 94
Neurodevelopmental outcome of Italian preterm ELBW infants: an eleven years single center cohort 93
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome 92
Obstetric risk factors and time trends of neurodevelopmental outcome at 2 years in very-low-birthweight infants: A single institution study 92
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 91
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications 91
Cerebral cavernous angiomas: an atypical case in infancy 91
Early parenting intervention promotes 24-month psychomotor development in preterm children 91
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy 90
Commentary on “Catatonia in a Patient with Aicardi-Goutières Syndrome Efficiently Treated with Immunoadsorption” 90
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 89
Calcifying leukoencephalopathies: new overlapping phenotypes 89
Challenges and opportunities for early intervention and neurodevelopmental follow-up in preterm infants during the COVID-19 pandemic 89
Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation 89
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study 88
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers. 88
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1 88
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 87
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. 86
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling 86
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome 86
Type I hyperprolinemia: genotype/phenotype correlations 86
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 86
Differential diagnosis of abusive Head Trauma In Children: two case reports and review of the literature 85
Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders 83
Neurodevelopmental outcome at 5-7 years in preterm infants with periventricular leukomalacia 83
Diagnostic yield and cost-effectiveness of “dynamic” exome analysis in epilepsy with neurodevelopmental disorders: A tertiary-center experience in Northern Italy 83
Post-partum Women’s Anxiety and Parenting Stress: Home-Visiting Protective Effect During the COVID-19 Pandemic 82
Valutazione dei consumi alimentari e del dispendio energetico in bambini affetti da distrofia muscolare di Duchenne 82
New molecular findings in congenital myopathies due to selenoprotein N gene mutations 82
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome 82
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 80
Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis 79
Typing TREX1 gene in patients with systemic lupus erythematosus 79
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition 79
Masked or not, I smile to you: Exploring full-term and preterm infants{'} social smiles to adults wearing a protective facemask 78
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 78
Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants’ temperament at 3 months 78
Ruxolitinib in Aicardi-Goutières syndrome 78
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 76
Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome 76
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature 76
Totale 10.189
Categoria #
all - tutte 59.499
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 59.499


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022563 0 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
2025/20265.412 439 323 529 630 710 294 1.015 254 451 391 235 141
2026/2027369 159 210 0 0 0 0 0 0 0 0 0 0
Totale 12.876