IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

PERON, ANGELA
 Distribuzione geografica
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Continente #
NA - Nord America 4.178
EU - Europa 3.831
AS - Asia 3.558
SA - Sud America 340
AF - Africa 76
OC - Oceania 67
Continente sconosciuto - Info sul continente non disponibili 3
Totale 12.053
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Nazione #
US - Stati Uniti d'America 3.994
GB - Regno Unito 1.320
SG - Singapore 1.137
CN - Cina 1.031
IT - Italia 810
HK - Hong Kong 350
DE - Germania 290
SE - Svezia 277
BD - Bangladesh 255
RU - Federazione Russa 252
BR - Brasile 251
VN - Vietnam 246
FR - Francia 183
IN - India 149
CA - Canada 129
IE - Irlanda 120
NL - Olanda 112
FI - Finlandia 102
DK - Danimarca 84
ID - Indonesia 69
JP - Giappone 64
AU - Australia 62
KR - Corea 59
BE - Belgio 47
TR - Turchia 46
UA - Ucraina 38
ES - Italia 35
PL - Polonia 30
MX - Messico 29
AR - Argentina 28
CI - Costa d'Avorio 24
CH - Svizzera 19
AT - Austria 18
MY - Malesia 18
CL - Cile 16
IQ - Iraq 15
RO - Romania 15
PH - Filippine 14
TW - Taiwan 14
PK - Pakistan 13
TH - Thailandia 13
GR - Grecia 12
NO - Norvegia 11
PE - Perù 11
PT - Portogallo 11
TN - Tunisia 11
KE - Kenya 10
EC - Ecuador 8
ZA - Sudafrica 8
CO - Colombia 7
IR - Iran 7
RS - Serbia 7
UZ - Uzbekistan 7
VE - Venezuela 7
BG - Bulgaria 6
CR - Costa Rica 6
IL - Israele 6
KZ - Kazakistan 6
SA - Arabia Saudita 6
BH - Bahrain 5
HR - Croazia 5
JM - Giamaica 5
KG - Kirghizistan 5
NP - Nepal 5
NZ - Nuova Zelanda 5
PA - Panama 5
PY - Paraguay 5
AE - Emirati Arabi Uniti 4
BO - Bolivia 4
CZ - Repubblica Ceca 4
DZ - Algeria 4
JO - Giordania 4
LT - Lituania 4
SC - Seychelles 4
AL - Albania 3
EG - Egitto 3
EU - Europa 3
GH - Ghana 3
HU - Ungheria 3
MA - Marocco 3
UY - Uruguay 3
AZ - Azerbaigian 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
KH - Cambogia 2
LA - Repubblica Popolare Democratica del Laos 2
LU - Lussemburgo 2
NG - Nigeria 2
PR - Porto Rico 2
SK - Slovacchia (Repubblica Slovacca) 2
TT - Trinidad e Tobago 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AG - Antigua e Barbuda 1
AP - ???statistics.table.value.countryCode.AP??? 1
BA - Bosnia-Erzegovina 1
CY - Cipro 1
EE - Estonia 1
ET - Etiopia 1
GD - Grenada 1
GI - Gibilterra 1
Totale 12.043
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Città #
Southend 1.150
Singapore 723
Ashburn 465
Chandler 399
Hong Kong 319
San Jose 306
Milan 261
Dallas 161
Beijing 155
Council Bluffs 146
Fairfield 126
Ann Arbor 124
Princeton 120
Dublin 117
Dearborn 105
Houston 105
New York 101
Los Angeles 100
Seattle 96
Wilmington 96
Santa Clara 89
Woodbridge 81
Frankfurt am Main 79
Helsinki 73
Guangzhou 70
Ho Chi Minh City 69
Hanoi 64
Toronto 62
Des Moines 57
Lauterbourg 57
Jakarta 56
Cambridge 54
The Dalles 54
Moscow 53
Rome 50
Buffalo 43
Tokyo 41
Boardman 40
Nanjing 40
Redwood City 39
Phoenix 38
Hanover 36
São Paulo 35
Columbus 34
Bengaluru 32
Seoul 32
Munich 31
Shanghai 30
Sydney 30
Cangzhou 26
Chicago 25
Abidjan 24
Jinan 24
Brussels 23
Hefei 23
San Diego 23
Berlin 22
London 22
Fremont 20
Shenyang 20
Warsaw 19
Hangzhou 18
Orem 18
Pune 18
Roxbury 18
Atlanta 17
Changsha 17
Florence 17
Kuala Lumpur 17
Nuremberg 17
Mountain View 16
Norwalk 16
Sunnyvale 16
Tianjin 16
Calgary 15
Istanbul 15
Montreal 15
Dong Ket 14
Nanchang 14
Naples 14
Redmond 14
Madrid 13
Piscataway 13
Boston 12
Paris 12
Amsterdam 11
Bologna 11
Buenos Aires 11
Da Nang 11
Fuzhou 11
Lima 11
San Francisco 11
Falls Church 10
Shenzhen 10
Turin 10
Washington 10
Bucharest 9
City of London 9
Edinburgh 9
Jiaxing 9
Totale 7.440
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Nome #
Medical care of adolescents and women with Rett syndrome : an Italian study 519
Women with TSC : Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis 380
Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers 345
TUBEROUS SCLEROSIS COMPLEX: IDENTIFICATION OF THE GENETIC CAUSE IN PATIENTS WITH NO MUTATION DETECTED, AND ANALYSIS OF MOSAICISM 337
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis : More pathological findings in the same chest CT, or a single pathological pathway? 300
Do patients with tuberous sclerosis complex have an increased risk for malignancies? 296
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 290
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 287
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 277
The TAND checklist: A useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1 249
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature 242
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background 242
Long-term outcome of epilepsy with onset in the first three years of life: findings from a large cohort of patients 239
Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex 235
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy 232
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes 229
Ictal signs in tuberous sclerosis complex : clinical and video-EEG features in a large series of recorded seizures 227
Phenotypes in adult patients with Rett syndrome : results of a 13-year experience and insights into healthcare transition 224
Hot water epilepsy : a video case of European boy with positive family history and subsequent non-reflex epilepsy 222
Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures? 221
Glioblastoma multiforme in a child with tuberous sclerosis complex 220
Epilepsy in adult patients with tuberous sclerosis complex 218
Exploring the role of matrix metalloproteinases as biomarkers in sporadic lymphangioleiomyomatosis and tuberous sclerosis complex. A pilot study 211
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants 206
Lennox-Gastaut syndrome in adulthood : Long-term clinical follow-up of 38 patients and analysis of their recorded seizures 205
Prenatal and postnatal findings in five cases of Fryns syndrome 196
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature 196
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 193
Sleep and behavior in children and adolescents with tuberous sclerosis complex 190
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 190
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome 189
Current concepts on epilepsy management in tuberous sclerosis complex 184
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study 182
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature 181
Interstitial 6q microdeletion syndrome and epilepsy : a new patient and review of the literature 176
Aortic dilation in Sotos syndrome : an underestimated feature? 175
Electroclinical pattern in MECP2 duplication syndrome : eight new reported cases and review of literature 174
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins : a genotype-phenotype analysis 173
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome 173
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 171
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study 170
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World 164
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder 159
Electroclinical findings in DUPXQ28 syndrome 155
Epilepsy in ring chromosome 20 syndrome 152
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy 149
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation 148
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 147
Electroclinical pattern in MECP2 duplication syndrome : eight new reported cases and review of literature 146
Neonatal suppression-burst without epileptic seizures : Expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy 142
Dramatic relapse of seizures after everolimus withdrawal 141
Rhinencephalon changes in tuberous sclerosis complex 136
Natural history of adults with KBG syndrome: a physician-reported experience 134
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 114
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity 113
Snyder-Robinson syndrome : Synonym: Spermine Synthase Deficiency 113
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 112
Hot water epilepsy and SYN1 variants 110
Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature 100
Snyder-Robinson syndrome : a novel nonsense mutation in spermine synthase and expansion of the phenotype 90
Negative atopy patch test and negative skin prick test reduce the need for oral food challenge in children with atopic dermatitis 86
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" 83
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism 80
Genetics, genomics, and genotype–phenotype correlations of TSC : Insights for clinical practice 79
Tuberous sclerosis complex 63
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 36
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Totale 12.528
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Categoria #
all - tutte 35.186
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 35.186
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202186 0 0 0 0 0 0 0 0 0 0 0 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
2023/2024788 36 53 49 73 177 71 65 36 22 51 62 93
2024/20251.928 87 189 41 199 140 113 73 183 105 189 170 439
2025/20264.295 409 220 419 290 434 284 535 202 504 274 588 136
Totale 12.528