PERON, ANGELA
 Distribuzione geografica
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Continente #
NA - Nord America 1.087
EU - Europa 804
AS - Asia 328
SA - Sud America 2
OC - Oceania 1
Totale 2.222
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Nazione #
US - Stati Uniti d'America 1.085
RU - Federazione Russa 665
HK - Hong Kong 151
SG - Singapore 124
IE - Irlanda 44
IT - Italia 40
IN - India 34
FI - Finlandia 23
CN - Cina 15
DK - Danimarca 7
DE - Germania 6
SE - Svezia 5
ES - Italia 4
FR - Francia 4
NL - Olanda 4
BR - Brasile 2
CA - Canada 2
TW - Taiwan 2
AU - Australia 1
GB - Regno Unito 1
ID - Indonesia 1
JO - Giordania 1
UA - Ucraina 1
Totale 2.222
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Città #
Santa Clara 788
Hong Kong 150
Singapore 110
Moscow 66
Dublin 44
Mumbai 33
West Jordan 28
Helsinki 22
Fairfield 17
Shanghai 11
Ashburn 7
Cambridge 7
Copenhagen 7
Houston 5
Naples 5
Wilmington 5
Woodbridge 5
Barcelona 4
Seattle 4
Yubileyny 4
Lawrence 3
Rome 3
Altamura 2
Bergamo 2
Boardman 2
Boston 2
Campi Bisenzio 2
Falkenstein 2
Fossombrone 2
Leipzig 2
Miaoli 2
New York 2
Prato 2
Princeton 2
Romola 2
Sala Baganza 2
Somerset 2
Yuncheng 2
Americana 1
Arezzo 1
Arosio 1
Council Bluffs 1
Falls Church 1
Florence 1
Groningen 1
Hounslow 1
Lappeenranta 1
Livorno 1
Medford 1
Milan 1
Mimizan 1
Padova 1
Palembang 1
Paris 1
Pisa 1
Plano 1
Rui'an 1
Sydney 1
São Paulo 1
Toronto 1
Trumbull 1
Venezia 1
Totale 1.384
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Nome #
Epilepsy in ring chromosome 20 syndrome 98
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study 54
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 54
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis : More pathological findings in the same chest CT, or a single pathological pathway? 50
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 49
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature 48
Aortic dilation in Sotos syndrome : an underestimated feature? 45
Women with TSC : Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis 44
Prenatal and postnatal findings in five cases of Fryns syndrome 44
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 43
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 43
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature 42
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder 40
Electroclinical findings in DUPXQ28 syndrome 39
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation 39
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World 38
Exploring the role of matrix metalloproteinases as biomarkers in sporadic lymphangioleiomyomatosis and tuberous sclerosis complex. A pilot study 37
Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures? 37
Do patients with tuberous sclerosis complex have an increased risk for malignancies? 36
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions 36
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy 35
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 35
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome 35
Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers 34
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature 34
Genetics, genomics, and genotype–phenotype correlations of TSC : Insights for clinical practice 34
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 33
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 33
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" 33
Medical care of adolescents and women with Rett syndrome : an Italian study 32
Hot water epilepsy and SYN1 variants 32
Dramatic relapse of seizures after everolimus withdrawal 32
Rhinencephalon changes in tuberous sclerosis complex 32
Snyder-Robinson syndrome : Synonym: Spermine Synthase Deficiency 32
Current concepts on epilepsy management in tuberous sclerosis complex 32
Sleep and behavior in children and adolescents with tuberous sclerosis complex 30
Long-term outcome of epilepsy with onset in the first three years of life: findings from a large cohort of patients 30
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes 30
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 30
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays 29
Neonatal suppression-burst without epileptic seizures : Expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy 29
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome 29
The TAND checklist: A useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1 28
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 28
Glioblastoma multiforme in a child with tuberous sclerosis complex 27
Electroclinical pattern in MECP2 duplication syndrome : eight new reported cases and review of literature 27
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy 27
Interstitial 6q microdeletion syndrome and epilepsy : a new patient and review of the literature 27
Snyder-Robinson syndrome : a novel nonsense mutation in spermine synthase and expansion of the phenotype 27
Lennox-Gastaut syndrome in adulthood : Long-term clinical follow-up of 38 patients and analysis of their recorded seizures 27
Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex 27
Phenotypes in adult patients with Rett syndrome : results of a 13-year experience and insights into healthcare transition 27
Tuberous sclerosis complex 27
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background 27
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins : a genotype-phenotype analysis 26
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism 26
Epilepsy in adult patients with tuberous sclerosis complex 26
Hot water epilepsy : a video case of European boy with positive family history and subsequent non-reflex epilepsy 26
Ictal signs in tuberous sclerosis complex : clinical and video-EEG features in a large series of recorded seizures 26
Negative atopy patch test and negative skin prick test reduce the need for oral food challenge in children with atopic dermatitis 25
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 24
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 22
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study 22
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 20
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature 20
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights 18
Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder 18
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature 16
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 15
Natural history of adults with KBG syndrome: A physician-reported experience 14
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity 6
Totale 2.297
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Categoria #
all - tutte 10.094
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 10.094
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202013 0 0 0 0 2 3 2 2 2 1 1 0
2020/202117 1 0 1 4 0 0 0 1 0 1 1 8
2021/202215 1 2 0 0 3 0 0 1 1 0 2 5
2022/202325 5 6 2 1 1 4 5 0 1 0 0 0
2023/2024393 0 1 2 5 83 40 7 158 11 60 13 13
2024/20251.816 63 282 158 388 925 0 0 0 0 0 0 0
Totale 2.297