IRIS
ORCESI, SIMONA
 Distribuzione geografica
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Continente #
NA - Nord America 2.733
EU - Europa 1.335
AS - Asia 518
AF - Africa 13
OC - Oceania 7
Continente sconosciuto - Info sul continente non disponibili 3
SA - Sud America 3
Totale 4.612
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Nazione #
US - Stati Uniti d'America 2.715
IE - Irlanda 778
CN - Cina 369
FI - Finlandia 138
IT - Italia 115
DE - Germania 84
SG - Singapore 78
UA - Ucraina 66
SE - Svezia 50
BE - Belgio 38
GB - Regno Unito 30
JP - Giappone 30
IN - India 20
CA - Canada 13
CZ - Repubblica Ceca 12
MU - Mauritius 12
FR - Francia 9
AU - Australia 7
TW - Taiwan 5
IR - Iran 4
MX - Messico 4
AT - Austria 3
RU - Federazione Russa 3
EU - Europa 2
GR - Grecia 2
HK - Hong Kong 2
LA - Repubblica Popolare Democratica del Laos 2
PT - Portogallo 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AM - Armenia 1
BR - Brasile 1
CH - Svizzera 1
CL - Cile 1
EG - Egitto 1
ES - Italia 1
GE - Georgia 1
IL - Israele 1
KG - Kirghizistan 1
KR - Corea 1
KZ - Kazakistan 1
MD - Moldavia 1
PA - Panama 1
PE - Perù 1
PK - Pakistan 1
PL - Polonia 1
RO - Romania 1
TR - Turchia 1
Totale 4.612
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Città #
Dublin 776
Chandler 774
Ashburn 249
Boardman 183
Princeton 116
Lawrence 115
Medford 114
Wilmington 101
Helsinki 99
Jacksonville 90
New York 75
Shanghai 74
Nanjing 73
Ann Arbor 67
Beijing 46
Singapore 42
Washington 39
Brussels 38
Nanchang 34
Los Angeles 32
Tokyo 28
Jiaxing 27
Shenyang 25
Fairfield 24
Falls Church 24
Hebei 22
Chicago 21
Milan 21
Norwalk 20
Pavia 20
Tianjin 18
Seattle 16
Woodbridge 16
Changsha 14
Des Moines 13
Piscataway 13
Pune 12
Dallas 9
Toronto 9
Brno 8
Hangzhou 8
Lodi 8
Rome 8
San Francisco 8
Dearborn 6
Munich 6
Berlin 4
Genoa 4
London 4
Mexico City 4
Olomouc 4
Springfield 4
Delhi 3
Falkenstein 3
Jinan 3
Sipbachzell 3
Taipei 3
Verona 3
Amadora 2
Andover 2
Athens 2
Auburn Hills 2
Azzano San Paolo 2
Brescia 2
Florence 2
Guangzhou 2
Huskvarna 2
Lund 2
Melbourne 2
Montréal 2
Naples 2
Osaka 2
Osimo 2
Phoenix 2
Pompiano 2
Redmond 2
Redwood City 2
Sydney 2
Tronzano Vercellese 2
Vientiane 2
Wenden 2
Xinzhuang District 2
Zhengzhou 2
Adliswil 1
Almaty 1
Anzio 1
Bishkek 1
Bottrop 1
Brisbane 1
Cambridge 1
Chisinau 1
Clifton 1
Council Bluffs 1
Focsani 1
Foshan 1
Frankfurt am Main 1
Fuzhou 1
Gallatin 1
Garbagnate Milanese 1
Gatchina 1
Totale 3.650
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Nome #
Risk and protective factors in maternal–fetal attachment development 86
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers. 75
Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma 69
Valutazione quantitativa mediante MR della composizione coroprea in pazienti affetti da distrofia muscolare di Duchenne 67
Dystrophinopathies: peculiar clinical and laboratory aspects 67
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 66
A global perspective on parental stress in the neonatal intensive care unit: a meta-analytic study 66
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing 62
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 62
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 60
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 58
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 57
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 55
Depressive symptoms and maternal psychological distress during early infancy: A pilot study in preterm as compared with term mother–infant dyads 55
Valutazione dei consumi alimentari e del dispendio energetico in bambini affetti da distrofia muscolare di Duchenne 54
Body composition and energy expenditure in Duchenne muscular dystrophy 54
Patient-reported outcomes measure for children born preterm: Validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool 54
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 53
An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder 53
Complexity of parental prenatal attachment during pregnancy at risk for preterm delivery 52
The Mother-Child Relationship during the First Months of Life: Preliminary Considerations in Preterm as Compared with Term Mother-Infant Dyads 52
Near-Infrared Spectroscopy Monitoring, Superior Vena Cava Flow, and Neurodevelopmental Outcome at 2 years in a Cohort of Very Low-Birth-Weight Infants 52
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 52
Spinal cord calcification in an early-onset progressive leukoencephalopathy. 51
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers. 51
Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial 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 49
Cortical malformations and COL4A1 mutation: Three new cases 49
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 49
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up 48
Altered PLP1 splicing causes hypomyelination of early myelinating structures 48
Obstetric risk factors and time trends of neurodevelopmental outcome at 2 years in very-low-birthweight infants: A single institution study 46
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings 46
Developmental Outcomes of Aicardi Goutières Syndrome 45
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome 44
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 44
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period 44
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 43
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 43
Effect of maternal psychopathology on neurodevelopmental outcome and quality of the dyadic relationship in preterm infants: an explorative study 42
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 42
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies 42
Novel and emerging treatments for Aicardi-Goutières syndrome 42
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 42
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 42
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients 41
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients 41
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations 41
Challenges and opportunities for early intervention and neurodevelopmental follow-up in preterm infants during the COVID-19 pandemic 41
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features 41
Commentary on “Catatonia in a Patient with Aicardi-Goutières Syndrome Efficiently Treated with Immunoadsorption” 40
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 39
Calcifying leukoencephalopathies: new overlapping phenotypes 38
Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): Study protocol for a multicentric longitudinal project 38
Development of a neurologic severity scale for Aicardi Goutières Syndrome 37
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications 36
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition 36
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome 36
Cerebral cavernous angiomas: an atypical case in infancy 36
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 36
Placental Histological Features and Neurodevelopmental Outcomes at Two Years in Very-Low-Birth-Weight Infants 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
Type I hyperprolinemia: genotype/phenotype correlations 35
Early parenting intervention promotes 24-month psychomotor development in preterm children 35
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 35
Early Parenting Intervention-Biobehavioral Outcomes in infants with Neurodevelopmental Disabilities (EPI-BOND): Study protocol for an Italian multicentre randomised controlled trial 34
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction 34
Differential diagnosis of abusive Head Trauma In Children: two case reports and review of the literature 33
Neurodevelopmental and cognitive outcome in very-low-birth-weight infants: clinical-ultrasound correlation 33
Typing TREX1 gene in patients with systemic lupus erythematosus 33
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling 33
Neurodevelopmental outcome at 5-7 years in preterm infants with periventricular leukomalacia 32
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 32
Neurodevelopmental outcome in very low birth weight infants at 24 months and 5 to 7 years of age: changing diagnosis 32
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1 32
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 32
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 31
Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants’ temperament at 3 months 31
Diagnostic yield and cost-effectiveness of “dynamic” exome analysis in epilepsy with neurodevelopmental disorders: A tertiary-center experience in Northern Italy 31
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report 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
Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders 30
Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome 30
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy 30
Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation 30
Is Brain-Derived Neurotropic Factor Methylation Involved in the Association Between Prenatal Stress and Maternal Postnatal Anxiety During the COVID-19 Pandemic? 29
Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome 29
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy 29
Evoluzione neuropsichica dei neonati «extremely low birth weight» 29
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease 29
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis 29
New molecular findings in congenital myopathies due to selenoprotein N gene mutations 28
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature 28
Neurodevelopmental outcome of Italian preterm ELBW infants: an eleven years single center cohort 27
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome 27
COL4A1 mutations associated with a characteristic pattern of intracranial calcification 27
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi–Goutières syndrome patients carrying RNASEH2 mutations 27
Neurodevelopmental outcome in very-low-birth-weight infants with or without periventricular haemorrhage and/or leucomalacia 26
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome 26
Totale 4.212
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Categoria #
all - tutte 25.076
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 25.076
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020105 0 0 0 11 1 13 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
2023/20241.006 84 166 73 54 76 278 35 55 5 42 51 87
2024/2025294 75 157 58 4 0 0 0 0 0 0 0 0
Totale 4.751