IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

PERON, ANGELA
 Distribuzione geografica
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Continente #
EU - Europa 2.712
NA - Nord America 2.176
AS - Asia 805
OC - Oceania 58
SA - Sud America 30
AF - Africa 13
Continente sconosciuto - Info sul continente non disponibili 3
Totale 5.797
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Nazione #
US - Stati Uniti d'America 2.103
GB - Regno Unito 1.241
IT - Italia 506
CN - Cina 442
SE - Svezia 268
DE - Germania 178
IN - India 113
IE - Irlanda 108
FR - Francia 87
DK - Danimarca 81
CA - Canada 71
HK - Hong Kong 65
AU - Australia 54
FI - Finlandia 54
KR - Corea 44
BE - Belgio 41
SG - Singapore 31
UA - Ucraina 31
JP - Giappone 20
VN - Vietnam 20
CH - Svizzera 19
TR - Turchia 18
NL - Olanda 14
BR - Brasile 13
MY - Malesia 12
RU - Federazione Russa 12
ES - Italia 10
ID - Indonesia 10
PT - Portogallo 9
CL - Cile 8
GR - Grecia 8
PL - Polonia 8
TW - Taiwan 8
NO - Norvegia 7
RO - Romania 6
AT - Austria 5
BG - Bulgaria 5
IR - Iran 5
PE - Perù 5
TN - Tunisia 5
NZ - Nuova Zelanda 4
EU - Europa 3
HR - Croazia 3
KE - Kenya 3
RS - Serbia 3
SC - Seychelles 3
TH - Thailandia 3
UZ - Uzbekistan 3
AL - Albania 2
CO - Colombia 2
CR - Costa Rica 2
HU - Ungheria 2
KZ - Kazakistan 2
LA - Repubblica Popolare Democratica del Laos 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AE - Emirati Arabi Uniti 1
AP - ???statistics.table.value.countryCode.AP??? 1
AR - Argentina 1
BH - Bahrain 1
BO - Bolivia 1
EE - Estonia 1
IL - Israele 1
KH - Cambogia 1
LT - Lituania 1
LU - Lussemburgo 1
NG - Nigeria 1
PH - Filippine 1
PK - Pakistan 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
UG - Uganda 1
Totale 5.799
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Città #
Southend 1.150
Chandler 399
Milan 215
Fairfield 126
Ann Arbor 121
Princeton 120
Ashburn 115
Dublin 107
Dearborn 104
Wilmington 96
Houston 95
Seattle 90
Woodbridge 81
Beijing 67
Des Moines 53
Cambridge 52
Hong Kong 52
Toronto 52
Frankfurt am Main 46
Helsinki 40
Redwood City 39
Hanover 36
Nanjing 36
Guangzhou 31
Bengaluru 28
Phoenix 28
New York 25
Sydney 24
San Diego 22
Brussels 21
Jinan 20
Seoul 20
Shenyang 20
Boardman 18
Fremont 18
Roxbury 18
Berlin 17
Pune 17
Mountain View 16
Norwalk 16
Sunnyvale 16
Changsha 15
Dong Ket 14
Redmond 14
Hangzhou 13
London 13
Nanchang 12
Kuala Lumpur 11
Falls Church 10
Florence 9
Jiaxing 9
Rome 9
Tokyo 9
Atlanta 8
Melegnano 8
Rho 8
Shanghai 8
Zhengzhou 8
Chicago 7
Copenhagen 7
Hebei 7
Singapore 7
Washington 7
Chengdu 6
Hefei 6
Los Angeles 6
Melbourne 6
Ningbo 6
Paris 6
Piscataway 6
Xian 6
Athens 5
Boston 5
Central District 5
Dallas 5
Edinburgh 5
Genoa 5
Grafing 5
Konya 5
Kunming 5
Lima 5
Oslo 5
Ottawa 5
Sofia 5
São Paulo 5
Upper Marlboro 5
Bitonto 4
Bucharest 4
Caboolture 4
Cagliari 4
Cincinnati 4
Kent 4
Lanzhou 4
Mumbai 4
San Francisco 4
Silver Spring 4
Talca 4
Tianjin 4
Tunis 4
Baltimore 3
Totale 4.058
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Nome #
Medical care of adolescents and women with Rett syndrome : an Italian study 308
Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers 244
Women with TSC : Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis 241
Do patients with tuberous sclerosis complex have an increased risk for malignancies? 191
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 182
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis : More pathological findings in the same chest CT, or a single pathological pathway? 181
TUBEROUS SCLEROSIS COMPLEX: IDENTIFICATION OF THE GENETIC CAUSE IN PATIENTS WITH NO MUTATION DETECTED, AND ANALYSIS OF MOSAICISM 175
Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex 152
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 150
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature 142
Hot water epilepsy : a video case of European boy with positive family history and subsequent non-reflex epilepsy 135
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 134
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature 126
Glioblastoma multiforme in a child with tuberous sclerosis complex 125
Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures? 124
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background 122
Long-term outcome of epilepsy with onset in the first three years of life: findings from a large cohort of patients 121
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome 119
Ictal signs in tuberous sclerosis complex : clinical and video-EEG features in a large series of recorded seizures 118
Prenatal and postnatal findings in five cases of Fryns syndrome 117
Electroclinical pattern in MECP2 duplication syndrome : eight new reported cases and review of literature 116
Phenotypes in adult patients with Rett syndrome : results of a 13-year experience and insights into healthcare transition 109
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 105
Electroclinical findings in DUPXQ28 syndrome 104
Interstitial 6q microdeletion syndrome and epilepsy : a new patient and review of the literature 102
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy 98
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 97
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome 96
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes 95
Epilepsy in ring chromosome 20 syndrome 92
Epilepsy in adult patients with tuberous sclerosis complex 92
Exploring the role of matrix metalloproteinases as biomarkers in sporadic lymphangioleiomyomatosis and tuberous sclerosis complex. A pilot study 92
Lennox-Gastaut syndrome in adulthood : Long-term clinical follow-up of 38 patients and analysis of their recorded seizures 91
Dramatic relapse of seizures after everolimus withdrawal 88
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 85
The TAND checklist: A useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1 85
Aortic dilation in Sotos syndrome : an underestimated feature? 83
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins : a genotype-phenotype analysis 81
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy 75
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation 75
Sleep and behavior in children and adolescents with tuberous sclerosis complex 74
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder 73
Neonatal suppression-burst without epileptic seizures : Expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy 72
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World 72
Rhinencephalon changes in tuberous sclerosis complex 70
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature 66
Electroclinical pattern in MECP2 duplication syndrome : eight new reported cases and review of literature 64
Hot water epilepsy and SYN1 variants 62
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study 59
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 55
Snyder-Robinson syndrome : a novel nonsense mutation in spermine synthase and expansion of the phenotype 51
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 47
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism 41
Snyder-Robinson syndrome : Synonym: Spermine Synthase Deficiency 40
Corrigendum to "Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet 2013, 161A: 2316-2320" 40
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 39
Negative atopy patch test and negative skin prick test reduce the need for oral food challenge in children with atopic dermatitis 39
Current concepts on epilepsy management in tuberous sclerosis complex 39
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants 30
Genetics, genomics, and genotype–phenotype correlations of TSC : Insights for clinical practice 26
Tuberous sclerosis complex 19
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study 5
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Totale 6.158
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Categoria #
all - tutte 17.074
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 17.074
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019111 0 0 0 0 0 0 0 0 0 0 51 60
2019/2020910 108 38 20 84 57 120 148 57 131 88 21 38
2020/2021901 64 59 55 43 91 114 57 91 91 53 97 86
2021/20221.213 87 90 74 67 98 72 77 71 127 112 63 275
2022/20231.222 147 156 122 100 119 198 45 106 126 10 65 28
2023/2024641 36 53 49 73 177 71 65 36 22 51 8 0
Totale 6.158