IRIS
ORCESI, SIMONA
 Distribuzione geografica
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Continente #
NA - Nord America 4.225
AS - Asia 2.612
EU - Europa 2.355
SA - Sud America 545
AF - Africa 77
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 5
AN - Antartide 1
Totale 9.832
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Nazione #
US - Stati Uniti d'America 4.111
CN - Cina 966
IE - Irlanda 780
SG - Singapore 772
BR - Brasile 474
HK - Hong Kong 422
RU - Federazione Russa 407
DE - Germania 257
IT - Italia 220
FI - Finlandia 210
VN - Vietnam 141
GB - Regno Unito 120
UA - Ucraina 73
JP - Giappone 69
SE - Svezia 67
CA - Canada 57
IN - India 54
BE - Belgio 40
MX - Messico 37
AR - Argentina 30
IQ - Iraq 29
ZA - Sudafrica 28
AT - Austria 27
BD - Bangladesh 27
PL - Polonia 27
FR - Francia 26
ES - Italia 23
NL - Olanda 19
CZ - Repubblica Ceca 16
PK - Pakistan 15
TR - Turchia 15
MU - Mauritius 12
AE - Emirati Arabi Uniti 11
EC - Ecuador 10
MA - Marocco 10
VE - Venezuela 10
AU - Australia 8
LT - Lituania 8
PT - Portogallo 8
UZ - Uzbekistan 8
ID - Indonesia 7
SA - Arabia Saudita 7
CO - Colombia 6
DZ - Algeria 6
IL - Israele 6
KG - Kirghizistan 6
KR - Corea 6
KZ - Kazakistan 6
AZ - Azerbaigian 5
BO - Bolivia 5
IR - Iran 5
JM - Giamaica 5
TW - Taiwan 5
CL - Cile 4
KE - Kenya 4
PH - Filippine 4
RO - Romania 4
TN - Tunisia 4
AM - Armenia 3
CH - Svizzera 3
CR - Costa Rica 3
EG - Egitto 3
HN - Honduras 3
LA - Repubblica Popolare Democratica del Laos 3
MD - Moldavia 3
PE - Perù 3
TH - Thailandia 3
BY - Bielorussia 2
CI - Costa d'Avorio 2
DK - Danimarca 2
ET - Etiopia 2
EU - Europa 2
GE - Georgia 2
GR - Grecia 2
JO - Giordania 2
LB - Libano 2
LU - Lussemburgo 2
MY - Malesia 2
NR - Nauru 2
OM - Oman 2
PS - Palestinian Territory 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
UY - Uruguay 2
XK - ???statistics.table.value.countryCode.XK??? 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
AO - Angola 1
AQ - Antartide 1
BB - Barbados 1
BG - Bulgaria 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
Totale 9.817
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Città #
Dublin 778
Chandler 774
Ashburn 437
Hong Kong 417
Singapore 378
Dallas 310
Beijing 275
Boardman 185
Los Angeles 148
New York 141
Helsinki 133
Princeton 116
Lawrence 115
Medford 114
Munich 110
Wilmington 101
Jacksonville 91
Shanghai 82
Nanjing 76
Ann Arbor 67
Tokyo 67
Ho Chi Minh City 66
Moscow 61
Redondo Beach 61
São Paulo 47
Buffalo 45
The Dalles 42
Brussels 40
Washington 40
Turku 38
Milan 35
Nanchang 34
Nuremberg 33
Chicago 32
Pavia 32
Rome 31
Jiaxing 28
Shenyang 28
Hanoi 27
Brooklyn 26
Warsaw 25
Denver 24
Fairfield 24
Falls Church 24
Montreal 24
Falkenstein 23
Seattle 23
Hebei 22
Santa Clara 22
Orem 21
Poplar 21
Tianjin 21
Atlanta 20
Boston 20
Columbus 20
Norwalk 20
Johannesburg 19
Mexico City 19
Rio de Janeiro 19
Changsha 18
Guangzhou 17
San Francisco 17
London 16
Stockholm 16
Toronto 16
Woodbridge 16
Des Moines 13
Frankfurt am Main 13
Hangzhou 13
Piscataway 13
Phoenix 12
Pune 12
Amsterdam 11
Chennai 11
Vienna 11
Zhengzhou 11
Baghdad 9
Houston 9
Belo Horizonte 8
Brasília 8
Brno 8
Curitiba 8
Lodi 8
Olomouc 8
Tashkent 8
Ankara 7
Campinas 7
Charlotte 7
Haiphong 7
Manchester 7
Santo André 7
Secaucus 7
Bishkek 6
Dearborn 6
Florence 6
Manaus 6
New Delhi 6
Porto Alegre 6
Praia Grande 6
Renfrew 6
Totale 6.479
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Nome #
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 126
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 124
Risk and protective factors in maternal–fetal attachment development 122
Dystrophinopathies: peculiar clinical and laboratory aspects 120
A global perspective on parental stress in the neonatal intensive care unit: a meta-analytic study 120
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing 119
An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder 118
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 113
Altered PLP1 splicing causes hypomyelination of early myelinating structures 110
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers. 104
Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma 102
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 99
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings 99
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 99
Cortical malformations and COL4A1 mutation: Three new cases 97
Depressive symptoms and maternal psychological distress during early infancy: A pilot study in preterm as compared with term mother–infant dyads 97
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 97
Body composition and energy expenditure in Duchenne muscular dystrophy 96
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome 95
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 95
Valutazione quantitativa mediante MR della composizione coroprea in pazienti affetti da distrofia muscolare di Duchenne 94
Patient-reported outcomes measure for children born preterm: Validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool 92
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients 92
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 92
Near-Infrared Spectroscopy Monitoring, Superior Vena Cava Flow, and Neurodevelopmental Outcome at 2 years in a Cohort of Very Low-Birth-Weight Infants 90
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations 90
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 90
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 89
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 89
Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial 89
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period 88
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study 87
Complexity of parental prenatal attachment during pregnancy at risk for preterm delivery 86
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 86
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 86
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies 86
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction 86
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up 85
Calcifying leukoencephalopathies: new overlapping phenotypes 84
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 83
Spinal cord calcification in an early-onset progressive leukoencephalopathy. 82
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 82
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients 82
Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): Study protocol for a multicentric longitudinal project 82
The Mother-Child Relationship during the First Months of Life: Preliminary Considerations in Preterm as Compared with Term Mother-Infant Dyads 81
Developmental Outcomes of Aicardi Goutières Syndrome 81
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 80
Obstetric risk factors and time trends of neurodevelopmental outcome at 2 years in very-low-birthweight infants: A single institution study 80
Effect of maternal psychopathology on neurodevelopmental outcome and quality of the dyadic relationship in preterm infants: an explorative study 80
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report 80
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features 79
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy 78
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. 76
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1 76
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 76
Commentary on “Catatonia in a Patient with Aicardi-Goutières Syndrome Efficiently Treated with Immunoadsorption” 76
Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation 76
Is Brain-Derived Neurotropic Factor Methylation Involved in the Association Between Prenatal Stress and Maternal Postnatal Anxiety During the COVID-19 Pandemic? 75
Measurement of skeletal muscle mass in Duchenne muscular disease: usefulness of 24-hour creatinine excretion 75
Valutazione dei consumi alimentari e del dispendio energetico in bambini affetti da distrofia muscolare di Duchenne 75
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications 75
Cerebral cavernous angiomas: an atypical case in infancy 75
Novel and emerging treatments for Aicardi-Goutières syndrome 75
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers. 75
Challenges and opportunities for early intervention and neurodevelopmental follow-up in preterm infants during the COVID-19 pandemic 74
Placental Histological Features and Neurodevelopmental Outcomes at Two Years in Very-Low-Birth-Weight Infants 73
Early parenting intervention promotes 24-month psychomotor development in preterm children 72
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 72
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 71
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 71
Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome 70
Development of a neurologic severity scale for Aicardi Goutières Syndrome 70
Neurodevelopmental outcome of Italian preterm ELBW infants: an eleven years single center cohort 69
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis 69
Differential diagnosis of abusive Head Trauma In Children: two case reports and review of the literature 68
Post-partum Women’s Anxiety and Parenting Stress: Home-Visiting Protective Effect During the COVID-19 Pandemic 68
Diagnostic yield and cost-effectiveness of “dynamic” exome analysis in epilepsy with neurodevelopmental disorders: A tertiary-center experience in Northern Italy 68
Fate of melatonin orally administered in preterm newborns: Antioxidant performance and basis for neuroprotection 66
Type I hyperprolinemia: genotype/phenotype correlations 66
Early Parenting Intervention-Biobehavioral Outcomes in infants with Neurodevelopmental Disabilities (EPI-BOND): Study protocol for an Italian multicentre randomised controlled trial 66
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome 65
Masked or not, I smile to you: Exploring full-term and preterm infants{'} social smiles to adults wearing a protective facemask 64
Typing TREX1 gene in patients with systemic lupus erythematosus 64
Neurodevelopmental outcome at 5-7 years in preterm infants with periventricular leukomalacia 64
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
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome 62
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 62
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition 62
Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants’ temperament at 3 months 62
Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders 61
Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome 61
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi–Goutières syndrome patients carrying RNASEH2 mutations 61
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 60
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 60
Neurodevelopmental and cognitive outcome in very-low-birth-weight infants: clinical-ultrasound correlation 59
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome 59
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature 59
Neurodevelopmental outcome in very low birth weight infants at 24 months and 5 to 7 years of age: changing diagnosis 59
New molecular findings in congenital myopathies due to selenoprotein N gene mutations 58
Totale 8.129
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Categoria #
all - tutte 49.358
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 49.358
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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
2025/20262.904 439 323 529 630 714 269 0 0 0 0 0 0
Totale 9.999