IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

PERON, ANGELA
 Distribuzione geografica
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Continente #
NA - Nord America 4.650
EU - Europa 3.978
AS - Asia 3.800
Continente sconosciuto - Info sul continente non disponibili 480
SA - Sud America 355
AF - Africa 77
OC - Oceania 67
Totale 13.407
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Nazione #
US - Stati Uniti d'America 4.388
GB - Regno Unito 1.324
SG - Singapore 1.148
CN - Cina 1.038
IT - Italia 941
BD - Bangladesh 467
HK - Hong Kong 350
DE - Germania 291
SE - Svezia 277
BR - Brasile 263
RU - Federazione Russa 252
VN - Vietnam 247
FR - Francia 185
CA - Canada 184
IN - India 150
IE - Irlanda 120
NL - Olanda 112
FI - Finlandia 102
DK - Danimarca 84
ID - Indonesia 74
JP - Giappone 64
AU - Australia 62
KR - Corea 59
BE - Belgio 48
TR - Turchia 46
ES - Italia 39
UA - Ucraina 39
PL - Polonia 32
MX - Messico 29
AR - Argentina 28
CI - Costa d'Avorio 24
CH - Svizzera 19
MY - Malesia 19
AT - Austria 18
CL - Cile 16
PH - Filippine 16
IQ - Iraq 15
RO - Romania 15
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
CO - Colombia 9
CR - Costa Rica 9
EC - Ecuador 9
JM - Giamaica 9
ZA - Sudafrica 8
IL - Israele 7
IR - Iran 7
RS - Serbia 7
UZ - Uzbekistan 7
VE - Venezuela 7
BG - Bulgaria 6
KZ - Kazakistan 6
SA - Arabia Saudita 6
AE - Emirati Arabi Uniti 5
BH - Bahrain 5
HR - Croazia 5
KG - Kirghizistan 5
NP - Nepal 5
NZ - Nuova Zelanda 5
PA - Panama 5
PR - Porto Rico 5
PY - Paraguay 5
SC - Seychelles 5
BO - Bolivia 4
CZ - Repubblica Ceca 4
DZ - Algeria 4
GT - Guatemala 4
JO - Giordania 4
LT - Lituania 4
TT - Trinidad e Tobago 4
AL - Albania 3
EG - Egitto 3
EU - Europa 3
GH - Ghana 3
HN - Honduras 3
HU - Ungheria 3
MA - Marocco 3
UY - Uruguay 3
AZ - Azerbaigian 2
BS - Bahamas 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
KH - Cambogia 2
LA - Repubblica Popolare Democratica del Laos 2
LC - Santa Lucia 2
LU - Lussemburgo 2
MD - Moldavia 2
NG - Nigeria 2
SK - Slovacchia (Repubblica Slovacca) 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AG - Antigua e Barbuda 1
AP - ???statistics.table.value.countryCode.AP??? 1
BA - Bosnia-Erzegovina 1
Totale 12.916
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Città #
Southend 1.150
Singapore 729
Ashburn 530
Chandler 399
Hong Kong 319
San Jose 317
Milan 279
Council Bluffs 197
Dallas 167
Beijing 156
Santa Clara 141
Fairfield 126
Ann Arbor 124
Los Angeles 121
Princeton 120
Dublin 117
New York 110
Houston 108
Dearborn 106
Seattle 97
Wilmington 97
Woodbridge 81
Frankfurt am Main 80
Helsinki 73
Guangzhou 70
Rome 70
Ho Chi Minh City 69
Toronto 69
Hanoi 65
Des Moines 57
Lauterbourg 57
Jakarta 56
Cambridge 54
The Dalles 54
Buffalo 53
Moscow 53
Phoenix 41
Tokyo 41
Boardman 40
Nanjing 40
Redwood City 39
Columbus 37
São Paulo 37
Hanover 36
Bengaluru 32
Seoul 32
Munich 31
Shanghai 31
Sydney 31
Montreal 29
Chicago 27
Cangzhou 26
Abidjan 24
Jinan 24
London 24
San Diego 24
Brussels 23
Hefei 23
Berlin 22
Warsaw 21
Fremont 20
Shenyang 20
Atlanta 19
San Francisco 19
Hangzhou 18
Kuala Lumpur 18
Naples 18
Orem 18
Pune 18
Roxbury 18
Changsha 17
Florence 17
Nuremberg 17
Mountain View 16
Norwalk 16
Sunnyvale 16
Tianjin 16
Calgary 15
Istanbul 15
Bologna 14
Dong Ket 14
Nanchang 14
Redmond 14
Turin 14
Boston 13
Madrid 13
Palermo 13
Paris 13
Piscataway 13
Amsterdam 11
Buenos Aires 11
Da Nang 11
Falls Church 11
Fuzhou 11
Lima 11
Washington 11
Bari 10
Charlotte 10
Genoa 10
Shenzhen 10
Totale 7.789
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Nome #
Medical care of adolescents and women with Rett syndrome : an Italian study 539
Women with TSC : Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis 397
TUBEROUS SCLEROSIS COMPLEX: IDENTIFICATION OF THE GENETIC CAUSE IN PATIENTS WITH NO MUTATION DETECTED, AND ANALYSIS OF MOSAICISM 365
Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers 354
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis : More pathological findings in the same chest CT, or a single pathological pathway? 314
Do patients with tuberous sclerosis complex have an increased risk for malignancies? 312
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 304
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 300
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 298
The TAND checklist: A useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1 285
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background 266
Long-term outcome of epilepsy with onset in the first three years of life: findings from a large cohort of patients 254
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature 253
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy 250
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes 248
Ictal signs in tuberous sclerosis complex : clinical and video-EEG features in a large series of recorded seizures 243
Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex 242
Phenotypes in adult patients with Rett syndrome : results of a 13-year experience and insights into healthcare transition 237
Epilepsy in adult patients with tuberous sclerosis complex 234
Hot water epilepsy : a video case of European boy with positive family history and subsequent non-reflex epilepsy 233
Glioblastoma multiforme in a child with tuberous sclerosis complex 231
Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures? 228
Exploring the role of matrix metalloproteinases as biomarkers in sporadic lymphangioleiomyomatosis and tuberous sclerosis complex. A pilot study 223
Current concepts on epilepsy management in tuberous sclerosis complex 222
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants 222
Lennox-Gastaut syndrome in adulthood : Long-term clinical follow-up of 38 patients and analysis of their recorded seizures 220
Prenatal and postnatal findings in five cases of Fryns syndrome 207
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature 205
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature 205
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome 203
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 203
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins : a genotype-phenotype analysis 201
Sleep and behavior in children and adolescents with tuberous sclerosis complex 200
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study 199
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 197
Interstitial 6q microdeletion syndrome and epilepsy : a new patient and review of the literature 181
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 181
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study 180
Aortic dilation in Sotos syndrome : an underestimated feature? 180
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World 179
Electroclinical pattern in MECP2 duplication syndrome : eight new reported cases and review of literature 178
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome 178
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder 168
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 164
Epilepsy in ring chromosome 20 syndrome 163
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy 162
Electroclinical findings in DUPXQ28 syndrome 158
Electroclinical pattern in MECP2 duplication syndrome : eight new reported cases and review of literature 158
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation 153
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 149
Dramatic relapse of seizures after everolimus withdrawal 148
Neonatal suppression-burst without epileptic seizures : Expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy 147
Rhinencephalon changes in tuberous sclerosis complex 145
Natural history of adults with KBG syndrome: a physician-reported experience 141
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity 139
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 133
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 123
Hot water epilepsy and SYN1 variants 119
Snyder-Robinson syndrome : Synonym: Spermine Synthase Deficiency 118
Snyder-Robinson syndrome : a novel nonsense mutation in spermine synthase and expansion of the phenotype 97
Negative atopy patch test and negative skin prick test reduce the need for oral food challenge in children with atopic dermatitis 91
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism 88
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" 84
Genetics, genomics, and genotype–phenotype correlations of TSC : Insights for clinical practice 83
Tuberous sclerosis complex 69
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 46
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Totale 13.407
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Categoria #
all - tutte 37.593
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 37.593
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.036 0 0 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
2025/20264.579 409 220 419 290 434 284 535 202 504 274 588 420
2026/2027595 295 286 14 0 0 0 0 0 0 0 0 0
Totale 13.407