IRIS
ORCESI, SIMONA
 Distribuzione geografica
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Continente #
NA - Nord America 4.114
AS - Asia 2.541
EU - Europa 2.329
SA - Sud America 533
AF - Africa 68
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 4
AN - Antartide 1
Totale 9.602
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Nazione #
US - Stati Uniti d'America 4.017
CN - Cina 947
IE - Irlanda 780
SG - Singapore 759
BR - Brasile 466
HK - Hong Kong 421
RU - Federazione Russa 407
DE - Germania 257
IT - Italia 219
FI - Finlandia 210
VN - Vietnam 139
GB - Regno Unito 111
UA - Ucraina 73
JP - Giappone 67
SE - Svezia 65
CA - Canada 49
IN - India 48
BE - Belgio 40
AR - Argentina 30
MX - Messico 30
AT - Austria 26
FR - Francia 26
ZA - Sudafrica 25
IQ - Iraq 24
PL - Polonia 22
BD - Bangladesh 21
ES - Italia 20
NL - Olanda 19
CZ - Repubblica Ceca 16
TR - Turchia 15
MU - Mauritius 12
PK - Pakistan 11
AE - Emirati Arabi Uniti 10
EC - Ecuador 9
AU - Australia 8
MA - Marocco 8
PT - Portogallo 8
VE - Venezuela 8
ID - Indonesia 7
CO - Colombia 6
IL - Israele 6
KG - Kirghizistan 6
KR - Corea 6
UZ - Uzbekistan 6
AZ - Azerbaigian 5
BO - Bolivia 5
DZ - Algeria 5
KZ - Kazakistan 5
LT - Lituania 5
SA - Arabia Saudita 5
TW - Taiwan 5
CL - Cile 4
IR - Iran 4
JM - Giamaica 4
RO - Romania 4
TN - Tunisia 4
AM - Armenia 3
CH - Svizzera 3
EG - Egitto 3
HN - Honduras 3
KE - Kenya 3
LA - Repubblica Popolare Democratica del Laos 3
PE - Perù 3
TH - Thailandia 3
CI - Costa d'Avorio 2
CR - Costa Rica 2
DK - Danimarca 2
EU - Europa 2
GE - Georgia 2
GR - Grecia 2
JO - Giordania 2
LU - Lussemburgo 2
MD - Moldavia 2
NR - Nauru 2
OM - Oman 2
PH - Filippine 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
UY - Uruguay 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
AO - Angola 1
AQ - Antartide 1
BB - Barbados 1
BG - Bulgaria 1
BY - Bielorussia 1
DM - Dominica 1
DO - Repubblica Dominicana 1
GD - Grenada 1
GN - Guinea 1
GT - Guatemala 1
HT - Haiti 1
HU - Ungheria 1
IM - Isola di Man 1
IS - Islanda 1
KH - Cambogia 1
LB - Libano 1
LK - Sri Lanka 1
LV - Lettonia 1
ME - Montenegro 1
Totale 9.590
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Città #
Dublin 778
Chandler 774
Hong Kong 416
Ashburn 411
Singapore 365
Dallas 310
Beijing 275
Boardman 185
Los Angeles 145
New York 136
Helsinki 133
Princeton 116
Lawrence 115
Medford 114
Munich 110
Wilmington 101
Jacksonville 91
Shanghai 82
Nanjing 76
Ann Arbor 67
Ho Chi Minh City 65
Tokyo 65
Moscow 61
Redondo Beach 61
Buffalo 45
São Paulo 45
The Dalles 42
Brussels 40
Washington 40
Turku 38
Milan 35
Nanchang 34
Nuremberg 33
Pavia 32
Chicago 31
Rome 31
Jiaxing 28
Shenyang 28
Brooklyn 26
Hanoi 26
Fairfield 24
Falls Church 24
Falkenstein 23
Hebei 22
Seattle 22
Santa Clara 21
Tianjin 21
Warsaw 21
Columbus 20
Denver 20
Norwalk 20
Rio de Janeiro 19
Boston 18
Changsha 18
Montreal 18
Atlanta 17
Johannesburg 17
Poplar 17
San Francisco 17
Guangzhou 16
Mexico City 16
Toronto 16
Woodbridge 16
Stockholm 14
Des Moines 13
Frankfurt am Main 13
Hangzhou 13
London 13
Orem 13
Piscataway 13
Pune 12
Amsterdam 11
Vienna 11
Zhengzhou 11
Phoenix 10
Baghdad 9
Chennai 9
Belo Horizonte 8
Brno 8
Curitiba 8
Lodi 8
Olomouc 8
Ankara 7
Brasília 7
Campinas 7
Haiphong 7
Santo André 7
Secaucus 7
Bishkek 6
Charlotte 6
Dearborn 6
Florence 6
Manaus 6
Manchester 6
New Delhi 6
Porto Alegre 6
Praia Grande 6
Renfrew 6
Tashkent 6
Uberlândia 6
Totale 6.368
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Nome #
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 125
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 122
Risk and protective factors in maternal–fetal attachment development 120
A global perspective on parental stress in the neonatal intensive care unit: a meta-analytic study 118
Dystrophinopathies: peculiar clinical and laboratory aspects 116
An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder 115
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing 114
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 109
Altered PLP1 splicing causes hypomyelination of early myelinating structures 104
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers. 101
Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma 101
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 97
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings 97
Cortical malformations and COL4A1 mutation: Three new cases 96
Depressive symptoms and maternal psychological distress during early infancy: A pilot study in preterm as compared with term mother–infant dyads 96
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 96
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 94
Body composition and energy expenditure in Duchenne muscular dystrophy 93
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome 92
Patient-reported outcomes measure for children born preterm: Validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool 91
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 91
Valutazione quantitativa mediante MR della composizione coroprea in pazienti affetti da distrofia muscolare di Duchenne 90
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients 89
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations 89
Near-Infrared Spectroscopy Monitoring, Superior Vena Cava Flow, and Neurodevelopmental Outcome at 2 years in a Cohort of Very Low-Birth-Weight Infants 88
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 88
Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial 88
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 88
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 87
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 87
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period 87
Complexity of parental prenatal attachment during pregnancy at risk for preterm delivery 86
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 85
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study 85
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 84
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction 84
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies 83
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up 82
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 81
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 81
Spinal cord calcification in an early-onset progressive leukoencephalopathy. 80
The Mother-Child Relationship during the First Months of Life: Preliminary Considerations in Preterm as Compared with Term Mother-Infant Dyads 80
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients 80
Developmental Outcomes of Aicardi Goutières Syndrome 80
Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): Study protocol for a multicentric longitudinal project 80
Obstetric risk factors and time trends of neurodevelopmental outcome at 2 years in very-low-birthweight infants: A single institution study 79
Calcifying leukoencephalopathies: new overlapping phenotypes 79
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features 79
Effect of maternal psychopathology on neurodevelopmental outcome and quality of the dyadic relationship in preterm infants: an explorative study 78
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 77
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. 76
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report 76
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy 75
Commentary on “Catatonia in a Patient with Aicardi-Goutières Syndrome Efficiently Treated with Immunoadsorption” 75
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications 74
Cerebral cavernous angiomas: an atypical case in infancy 74
Novel and emerging treatments for Aicardi-Goutières syndrome 74
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1 74
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 74
Challenges and opportunities for early intervention and neurodevelopmental follow-up in preterm infants during the COVID-19 pandemic 73
Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation 73
Is Brain-Derived Neurotropic Factor Methylation Involved in the Association Between Prenatal Stress and Maternal Postnatal Anxiety During the COVID-19 Pandemic? 72
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 72
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers. 72
Placental Histological Features and Neurodevelopmental Outcomes at Two Years in Very-Low-Birth-Weight Infants 72
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 71
Early parenting intervention promotes 24-month psychomotor development in preterm children 71
Valutazione dei consumi alimentari e del dispendio energetico in bambini affetti da distrofia muscolare di Duchenne 70
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 70
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 70
Development of a neurologic severity scale for Aicardi Goutières Syndrome 69
Neurodevelopmental outcome of Italian preterm ELBW infants: an eleven years single center cohort 68
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis 68
Differential diagnosis of abusive Head Trauma In Children: two case reports and review of the literature 67
Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome 67
Diagnostic yield and cost-effectiveness of “dynamic” exome analysis in epilepsy with neurodevelopmental disorders: A tertiary-center experience in Northern Italy 67
Post-partum Women’s Anxiety and Parenting Stress: Home-Visiting Protective Effect During the COVID-19 Pandemic 66
Type I hyperprolinemia: genotype/phenotype correlations 65
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome 65
Fate of melatonin orally administered in preterm newborns: Antioxidant performance and basis for neuroprotection 64
Neurodevelopmental outcome at 5-7 years in preterm infants with periventricular leukomalacia 64
Early Parenting Intervention-Biobehavioral Outcomes in infants with Neurodevelopmental Disabilities (EPI-BOND): Study protocol for an Italian multicentre randomised controlled trial 64
Typing TREX1 gene in patients with systemic lupus erythematosus 63
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling 63
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 63
Masked or not, I smile to you: Exploring full-term and preterm infants{'} social smiles to adults wearing a protective facemask 62
Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders 61
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition 61
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 60
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 60
Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome 60
Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants’ temperament at 3 months 60
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi–Goutières syndrome patients carrying RNASEH2 mutations 60
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome 59
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 58
New molecular findings in congenital myopathies due to selenoprotein N gene mutations 58
Neurodevelopmental and cognitive outcome in very-low-birth-weight infants: clinical-ultrasound correlation 58
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature 58
Evoluzione neuropsichica dei neonati «extremely low birth weight» 58
Neurodevelopmental outcome in very low birth weight infants at 24 months and 5 to 7 years of age: changing diagnosis 58
Totale 7.944
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Categoria #
all - tutte 48.326
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 48.326
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021242 0 0 0 0 0 70 7 72 30 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
2025/20262.674 439 323 529 630 714 39 0 0 0 0 0 0
Totale 9.769