IRIS
ORCESI, SIMONA
 Distribuzione geografica
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Continente #
NA - Nord America 6.429
AS - Asia 3.604
EU - Europa 2.827
SA - Sud America 678
AF - Africa 193
Continente sconosciuto - Info sul continente non disponibili 184
OC - Oceania 18
AN - Antartide 1
Totale 13.934
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Nazione #
US - Stati Uniti d'America 6.209
SG - Singapore 1.134
CN - Cina 1.080
IE - Irlanda 784
BR - Brasile 531
HK - Hong Kong 470
RU - Federazione Russa 415
IT - Italia 409
VN - Vietnam 351
DE - Germania 282
FI - Finlandia 211
FR - Francia 172
GB - Regno Unito 160
ZA - Sudafrica 112
IN - India 106
CA - Canada 93
BD - Bangladesh 84
JP - Giappone 80
UA - Ucraina 75
SE - Svezia 68
AR - Argentina 51
IQ - Iraq 49
MX - Messico 49
BE - Belgio 41
NL - Olanda 37
ES - Italia 35
PK - Pakistan 35
AT - Austria 28
PL - Polonia 28
TR - Turchia 27
EC - Ecuador 23
UZ - Uzbekistan 22
CO - Colombia 20
PH - Filippine 20
CZ - Repubblica Ceca 18
SA - Arabia Saudita 17
VE - Venezuela 17
AE - Emirati Arabi Uniti 16
ID - Indonesia 16
MA - Marocco 16
AU - Australia 14
CR - Costa Rica 14
MU - Mauritius 13
JM - Giamaica 12
BO - Bolivia 11
DZ - Algeria 10
KG - Kirghizistan 10
CL - Cile 9
IL - Israele 9
KE - Kenya 9
MY - Malesia 9
PT - Portogallo 9
HN - Honduras 8
LT - Lituania 8
TN - Tunisia 8
JO - Giordania 7
KZ - Kazakistan 7
NI - Nicaragua 7
PY - Paraguay 7
EG - Egitto 6
GT - Guatemala 6
KR - Corea 6
PE - Perù 6
PR - Porto Rico 6
AZ - Azerbaigian 5
CH - Svizzera 5
DK - Danimarca 5
IR - Iran 5
RO - Romania 5
SV - El Salvador 5
TW - Taiwan 5
BB - Barbados 4
EE - Estonia 4
GR - Grecia 4
LB - Libano 4
MD - Moldavia 4
OM - Oman 4
PA - Panama 4
TH - Thailandia 4
AL - Albania 3
AM - Armenia 3
KW - Kuwait 3
LA - Repubblica Popolare Democratica del Laos 3
LY - Libia 3
TT - Trinidad e Tobago 3
UY - Uruguay 3
AO - Angola 2
BY - Bielorussia 2
CG - Congo 2
CI - Costa d'Avorio 2
CW - ???statistics.table.value.countryCode.CW??? 2
CY - Cipro 2
DM - Dominica 2
ET - Etiopia 2
EU - Europa 2
GE - Georgia 2
HR - Croazia 2
LU - Lussemburgo 2
LV - Lettonia 2
NP - Nepal 2
Totale 13.718
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Città #
Dublin 782
Chandler 774
San Jose 718
Singapore 653
Ashburn 617
Hong Kong 457
Council Bluffs 331
Dallas 326
Beijing 301
Boardman 189
Los Angeles 173
New York 158
Helsinki 134
Ho Chi Minh City 123
Lauterbourg 123
Princeton 120
Lawrence 115
Medford 114
Munich 110
Wilmington 101
Johannesburg 93
Jacksonville 92
Shanghai 84
Hanoi 83
Nanjing 76
Tokyo 76
Santa Clara 70
Ann Arbor 68
Moscow 61
Redondo Beach 61
Milan 60
São Paulo 58
Buffalo 53
Rome 50
Chicago 46
Washington 46
The Dalles 43
Pavia 42
Brussels 40
Columbus 39
Orem 39
Turku 38
Nuremberg 37
Denver 36
Nanchang 35
Brooklyn 33
Atlanta 32
Montreal 32
Jiaxing 28
Phoenix 28
Shenyang 28
Warsaw 26
Frankfurt am Main 25
Mexico City 25
Fairfield 24
Falls Church 24
Seattle 24
Da Nang 23
Falkenstein 23
Boston 22
Hebei 22
Poplar 22
Chennai 21
London 21
Norwalk 21
Rio de Janeiro 21
San Francisco 21
Tianjin 21
Toronto 21
Tashkent 20
Amsterdam 19
Haiphong 19
Baghdad 18
Changsha 18
Guangzhou 17
Woodbridge 17
Stockholm 16
Piscataway 15
Hangzhou 14
Houston 14
Lahore 14
Des Moines 13
Pune 13
Quito 12
San José 12
Vienna 12
Zhengzhou 12
Florence 11
New Delhi 11
Belo Horizonte 10
Charlotte 10
Naples 10
Brasília 9
Curitiba 9
Jeddah 9
Manchester 9
Queens 9
Turin 9
Bishkek 8
Brno 8
Totale 8.830
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Nome #
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 167
A global perspective on parental stress in the neonatal intensive care unit: a meta-analytic study 163
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 159
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 154
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing 151
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 151
Risk and protective factors in maternal–fetal attachment development 150
An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder 148
Altered PLP1 splicing causes hypomyelination of early myelinating structures 142
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 141
Dystrophinopathies: peculiar clinical and laboratory aspects 136
Depressive symptoms and maternal psychological distress during early infancy: A pilot study in preterm as compared with term mother–infant dyads 133
Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma 132
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 132
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings 132
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 130
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers. 126
Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial 124
Near-Infrared Spectroscopy Monitoring, Superior Vena Cava Flow, and Neurodevelopmental Outcome at 2 years in a Cohort of Very Low-Birth-Weight Infants 123
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction 123
Cortical malformations and COL4A1 mutation: Three new cases 122
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period 122
Patient-reported outcomes measure for children born preterm: Validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool 120
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients 120
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations 120
Body composition and energy expenditure in Duchenne muscular dystrophy 119
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome 119
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 117
Neurodevelopmental outcome of Italian preterm ELBW infants: an eleven years single center cohort 116
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features 116
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report 115
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 115
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 113
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 113
Developmental Outcomes of Aicardi Goutières Syndrome 113
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 112
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study 111
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis 110
Valutazione quantitativa mediante MR della composizione coroprea in pazienti affetti da distrofia muscolare di Duchenne 109
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies 109
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications 108
Novel and emerging treatments for Aicardi-Goutières syndrome 108
Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): Study protocol for a multicentric longitudinal project 108
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 107
Placental Histological Features and Neurodevelopmental Outcomes at Two Years in Very-Low-Birth-Weight Infants 107
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 106
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 106
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 106
Is Brain-Derived Neurotropic Factor Methylation Involved in the Association Between Prenatal Stress and Maternal Postnatal Anxiety During the COVID-19 Pandemic? 105
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up 105
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients 105
Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome 104
Development of a neurologic severity scale for Aicardi Goutières Syndrome 104
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 104
Spinal cord calcification in an early-onset progressive leukoencephalopathy. 102
The Mother-Child Relationship during the First Months of Life: Preliminary Considerations in Preterm as Compared with Term Mother-Infant Dyads 102
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study 101
Fate of melatonin orally administered in preterm newborns: Antioxidant performance and basis for neuroprotection 101
Complexity of parental prenatal attachment during pregnancy at risk for preterm delivery 100
Effect of maternal psychopathology on neurodevelopmental outcome and quality of the dyadic relationship in preterm infants: an explorative study 100
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 100
Type I hyperprolinemia: genotype/phenotype correlations 100
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 99
Early Parenting Intervention-Biobehavioral Outcomes in infants with Neurodevelopmental Disabilities (EPI-BOND): Study protocol for an Italian multicentre randomised controlled trial 99
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 98
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy 98
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome 97
Early parenting intervention promotes 24-month psychomotor development in preterm children 97
Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation 96
Obstetric risk factors and time trends of neurodevelopmental outcome at 2 years in very-low-birthweight infants: A single institution study 95
Commentary on “Catatonia in a Patient with Aicardi-Goutières Syndrome Efficiently Treated with Immunoadsorption” 95
Cerebral cavernous angiomas: an atypical case in infancy 94
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers. 94
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling 93
Calcifying leukoencephalopathies: new overlapping phenotypes 93
Challenges and opportunities for early intervention and neurodevelopmental follow-up in preterm infants during the COVID-19 pandemic 93
Neurodevelopmental outcome at 5-7 years in preterm infants with periventricular leukomalacia 92
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome 92
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 92
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 91
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1 91
Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders 90
Ruxolitinib in Aicardi-Goutières syndrome 90
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 89
Post-partum Women’s Anxiety and Parenting Stress: Home-Visiting Protective Effect During the COVID-19 Pandemic 89
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. 89
Differential diagnosis of abusive Head Trauma In Children: two case reports and review of the literature 88
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 88
New molecular findings in congenital myopathies due to selenoprotein N gene mutations 88
Diagnostic yield and cost-effectiveness of “dynamic” exome analysis in epilepsy with neurodevelopmental disorders: A tertiary-center experience in Northern Italy 88
Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis 87
Typing TREX1 gene in patients with systemic lupus erythematosus 87
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition 87
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 86
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome 86
Masked or not, I smile to you: Exploring full-term and preterm infants{'} social smiles to adults wearing a protective facemask 85
Valutazione dei consumi alimentari e del dispendio energetico in bambini affetti da distrofia muscolare di Duchenne 83
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease 81
Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants’ temperament at 3 months 81
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy 80
Totale 10.858
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Categoria #
all - tutte 64.308
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 64.308
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022548 0 0 0 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
2026/20271.427 159 316 403 549 0 0 0 0 0 0 0 0
Totale 13.934