IRIS
ORCESI, SIMONA
 Distribuzione geografica
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Continente #
NA - Nord America 2.758
EU - Europa 1.435
AS - Asia 750
SA - Sud America 34
AF - Africa 17
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 3
Totale 5.006
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Nazione #
US - Stati Uniti d'America 2.737
IE - Irlanda 778
CN - Cina 465
SG - Singapore 206
FI - Finlandia 170
IT - Italia 148
DE - Germania 104
UA - Ucraina 67
SE - Svezia 50
BE - Belgio 40
GB - Regno Unito 37
JP - Giappone 30
BR - Brasile 28
IN - India 20
CA - Canada 16
CZ - Repubblica Ceca 12
MU - Mauritius 12
FR - Francia 10
AU - Australia 8
TW - Taiwan 5
AT - Austria 4
IR - Iran 4
MX - Messico 4
RU - Federazione Russa 4
HK - Hong Kong 3
TR - Turchia 3
EU - Europa 2
GR - Grecia 2
LA - Repubblica Popolare Democratica del Laos 2
LT - Lituania 2
PE - Perù 2
PT - Portogallo 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AM - Armenia 1
AO - Angola 1
AR - Argentina 1
AZ - Azerbaigian 1
BO - Bolivia 1
CH - Svizzera 1
CL - Cile 1
DZ - Algeria 1
EC - Ecuador 1
EG - Egitto 1
ES - Italia 1
GE - Georgia 1
IL - Israele 1
IQ - Iraq 1
KG - Kirghizistan 1
KR - Corea 1
KZ - Kazakistan 1
MD - Moldavia 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PA - Panama 1
PK - Pakistan 1
PL - Polonia 1
RO - Romania 1
TH - Thailandia 1
TN - Tunisia 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 5.006
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Città #
Dublin 776
Chandler 774
Ashburn 249
Boardman 185
Singapore 132
Helsinki 131
Princeton 116
Lawrence 115
Medford 114
Wilmington 101
Jacksonville 90
Shanghai 76
Nanjing 75
New York 75
Ann Arbor 67
Beijing 49
Brussels 40
Washington 40
Nanchang 34
Los Angeles 32
Tokyo 28
Jiaxing 27
Shenyang 25
Fairfield 24
Falls Church 24
Rome 24
Hebei 22
Milan 22
Chicago 21
Pavia 21
Norwalk 20
Tianjin 18
Seattle 17
Woodbridge 16
Changsha 15
Falkenstein 14
Des Moines 13
Piscataway 13
Pune 12
Guangzhou 10
Munich 10
Toronto 10
Dallas 9
Hangzhou 9
San Francisco 9
Brno 8
Lodi 8
Dearborn 6
Zhengzhou 5
Berlin 4
Genoa 4
Jinan 4
London 4
Mexico City 4
Olomouc 4
Springfield 4
Chengdu 3
Delhi 3
Frankfurt am Main 3
Mede 3
Ningbo 3
Nuremberg 3
Sipbachzell 3
Taipei 3
Verona 3
Amadora 2
Andover 2
Athens 2
Auburn Hills 2
Azzano San Paolo 2
Brescia 2
Florence 2
Harbin 2
Hong Kong 2
Huskvarna 2
Langfang 2
Lima 2
Lund 2
Ma'anshan 2
Melbourne 2
Montréal 2
Naples 2
Osaka 2
Osimo 2
Ottawa 2
Papillion 2
Phoenix 2
Pompiano 2
Redmond 2
Redwood City 2
Rio de Janeiro 2
Santa Clara 2
Shijiazhuang 2
Sydney 2
São Paulo 2
Tronzano Vercellese 2
Vientiane 2
Wenden 2
Wuhan 2
Xinzhuang District 2
Totale 3.856
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Nome #
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 93
Risk and protective factors in maternal–fetal attachment development 89
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers. 77
A global perspective on parental stress in the neonatal intensive care unit: a meta-analytic study 73
Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma 71
Dystrophinopathies: peculiar clinical and laboratory aspects 69
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 69
Valutazione quantitativa mediante MR della composizione coroprea in pazienti affetti da distrofia muscolare di Duchenne 67
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing 65
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 63
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 62
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 60
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 59
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study 59
An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder 58
Depressive symptoms and maternal psychological distress during early infancy: A pilot study in preterm as compared with term mother–infant dyads 58
Complexity of parental prenatal attachment during pregnancy at risk for preterm delivery 57
Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial 56
Valutazione dei consumi alimentari e del dispendio energetico in bambini affetti da distrofia muscolare di Duchenne 55
Body composition and energy expenditure in Duchenne muscular dystrophy 55
Patient-reported outcomes measure for children born preterm: Validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool 55
The Mother-Child Relationship during the First Months of Life: Preliminary Considerations in Preterm as Compared with Term Mother-Infant Dyads 55
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 55
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 54
Near-Infrared Spectroscopy Monitoring, Superior Vena Cava Flow, and Neurodevelopmental Outcome at 2 years in a Cohort of Very Low-Birth-Weight Infants 54
Cortical malformations and COL4A1 mutation: Three new cases 53
Spinal cord calcification in an early-onset progressive leukoencephalopathy. 51
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up 51
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 51
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers. 51
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. 50
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 50
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 50
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings 49
Altered PLP1 splicing causes hypomyelination of early myelinating structures 49
Developmental Outcomes of Aicardi Goutières Syndrome 48
Obstetric risk factors and time trends of neurodevelopmental outcome at 2 years in very-low-birthweight infants: A single institution study 47
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients 47
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 47
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations 47
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period 47
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome 46
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 46
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies 46
Novel and emerging treatments for Aicardi-Goutières syndrome 46
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 45
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features 45
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 45
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients 44
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 44
Effect of maternal psychopathology on neurodevelopmental outcome and quality of the dyadic relationship in preterm infants: an explorative study 43
Challenges and opportunities for early intervention and neurodevelopmental follow-up in preterm infants during the COVID-19 pandemic 42
Commentary on “Catatonia in a Patient with Aicardi-Goutières Syndrome Efficiently Treated with Immunoadsorption” 42
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 42
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications 41
Cerebral cavernous angiomas: an atypical case in infancy 41
Development of a neurologic severity scale for Aicardi Goutières Syndrome 41
Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): Study protocol for a multicentric longitudinal project 41
Calcifying leukoencephalopathies: new overlapping phenotypes 40
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 40
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 39
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition 38
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome 38
Early Parenting Intervention-Biobehavioral Outcomes in infants with Neurodevelopmental Disabilities (EPI-BOND): Study protocol for an Italian multicentre randomised controlled trial 38
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 38
Placental Histological Features and Neurodevelopmental Outcomes at Two Years in Very-Low-Birth-Weight Infants 38
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction 38
Type I hyperprolinemia: genotype/phenotype correlations 37
Early parenting intervention promotes 24-month psychomotor development in preterm children 37
Differential diagnosis of abusive Head Trauma In Children: two case reports and review of the literature 36
Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders 36
Zika virus infection in pregnancy: Advanced diagnostic approaches in dengue-naive and dengue-experienced pregnant women and possible implication for cross-reactivity and cross-protection 35
Typing TREX1 gene in patients with systemic lupus erythematosus 35
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1 35
Neurodevelopmental and cognitive outcome in very-low-birth-weight infants: clinical-ultrasound correlation 34
Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome 34
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy 34
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report 34
Is Brain-Derived Neurotropic Factor Methylation Involved in the Association Between Prenatal Stress and Maternal Postnatal Anxiety During the COVID-19 Pandemic? 33
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling 33
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 33
Neurodevelopmental outcome in very low birth weight infants at 24 months and 5 to 7 years of age: changing diagnosis 33
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease 33
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 33
Neurodevelopmental outcome at 5-7 years in preterm infants with periventricular leukomalacia 32
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy 32
Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants’ temperament at 3 months 32
New molecular findings in congenital myopathies due to selenoprotein N gene mutations 31
Diagnostic yield and cost-effectiveness of “dynamic” exome analysis in epilepsy with neurodevelopmental disorders: A tertiary-center experience in Northern Italy 31
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS 31
Neurodevelopmental outcome of Italian preterm ELBW infants: an eleven years single center cohort 30
Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome 30
Evoluzione neuropsichica dei neonati «extremely low birth weight» 30
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis 30
Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation 30
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome 29
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome 29
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature 29
COL4A1 mutations associated with a characteristic pattern of intracranial calcification 29
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi–Goutières syndrome patients carrying RNASEH2 mutations 27
Totale 4.530
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Categoria #
all - tutte 29.740
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 29.740
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202080 0 0 0 0 0 0 2 18 4 37 19 0
2020/2021302 17 12 6 21 4 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
2024/2025694 75 159 58 86 90 218 8 0 0 0 0 0
Totale 5.163