PERON, ANGELA
 Distribuzione geografica
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Continente #
AS - Asia 3.698
NA - Nord America 3.176
EU - Europa 1.832
SA - Sud America 501
AF - Africa 73
OC - Oceania 66
Continente sconosciuto - Info sul continente non disponibili 1
Totale 9.347
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Nazione #
US - Stati Uniti d'America 3.083
CN - Cina 1.208
SG - Singapore 940
RU - Federazione Russa 916
IT - Italia 535
HK - Hong Kong 530
BR - Brasile 400
KR - Corea 397
VN - Vietnam 256
IN - India 107
BD - Bangladesh 97
FR - Francia 96
AU - Australia 66
FI - Finlandia 64
CA - Canada 53
IE - Irlanda 49
JP - Giappone 43
AR - Argentina 40
GB - Regno Unito 36
DE - Germania 33
ID - Indonesia 29
NG - Nigeria 25
NL - Olanda 23
MX - Messico 22
IQ - Iraq 20
EC - Ecuador 17
PK - Pakistan 16
SE - Svezia 14
CO - Colombia 12
PL - Polonia 12
BJ - Benin 11
ES - Italia 11
ZA - Sudafrica 10
UA - Ucraina 9
PE - Perù 8
TR - Turchia 8
UZ - Uzbekistan 8
CL - Cile 7
DK - Danimarca 7
MA - Marocco 7
PY - Paraguay 7
IL - Israele 6
VE - Venezuela 6
AT - Austria 5
KE - Kenya 5
AE - Emirati Arabi Uniti 4
AZ - Azerbaigian 4
JM - Giamaica 4
NP - Nepal 4
BB - Barbados 3
LT - Lituania 3
PH - Filippine 3
PR - Porto Rico 3
TN - Tunisia 3
TW - Taiwan 3
AL - Albania 2
BH - Bahrain 2
BO - Bolivia 2
DZ - Algeria 2
EG - Egitto 2
ET - Etiopia 2
GR - Grecia 2
GT - Guatemala 2
HR - Croazia 2
JO - Giordania 2
MD - Moldavia 2
MG - Madagascar 2
MY - Malesia 2
PS - Palestinian Territory 2
PT - Portogallo 2
RS - Serbia 2
TT - Trinidad e Tobago 2
UY - Uruguay 2
AM - Armenia 1
AO - Angola 1
BG - Bulgaria 1
BZ - Belize 1
CH - Svizzera 1
CI - Costa d'Avorio 1
GN - Guinea 1
HN - Honduras 1
IR - Iran 1
KH - Cambogia 1
LB - Libano 1
LK - Sri Lanka 1
LV - Lettonia 1
MT - Malta 1
NI - Nicaragua 1
NO - Norvegia 1
QA - Qatar 1
RO - Romania 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
UG - Uganda 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 9.347
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Città #
Santa Clara 1.335
Singapore 784
Hefei 581
Hong Kong 525
Seoul 396
Ashburn 388
San Jose 188
Milan 128
Ho Chi Minh City 96
Los Angeles 96
Beijing 95
Council Bluffs 81
Moscow 80
Lauterbourg 71
Melbourne 62
Chicago 57
Rome 57
Hanoi 56
Kent 56
Buffalo 50
Dublin 50
Bengaluru 40
Tokyo 37
Helsinki 36
New York 36
The Dalles 36
Mumbai 35
West Jordan 31
Lappeenranta 27
São Paulo 27
Abuja 25
Naples 25
Jakarta 19
Shanghai 18
Fairfield 17
Dallas 15
Florence 15
Salt Lake City 15
Bologna 14
Guangzhou 14
Haiphong 13
Miano 13
São José de Ribamar 13
Boardman 12
Houston 12
Toronto 12
Chennai 11
Cotonou 11
London 11
Orem 11
Phoenix 11
Porto Alegre 11
Dalmine 10
Montreal 10
Turin 10
Dhaka 9
Mexico City 9
Paris 9
Rio de Janeiro 9
Seattle 9
Warsaw 9
Belo Horizonte 8
Brooklyn 8
Cambridge 8
Elk Grove Village 8
Thái Nguyên 8
Wilmington 8
Baghdad 7
Copenhagen 7
Faisalabad 7
Frankfurt am Main 7
Nuremberg 7
Quito 7
Sterling 7
Bari 6
Bergamo 6
Boston 6
Cardiff 6
Córdoba 6
Da Nang 6
Denver 6
Miami 6
Poplar 6
Ribeirão Preto 6
Salvador 6
Tampa 6
Tashkent 6
Atlanta 5
Brescia 5
Bắc Ninh 5
Goiânia 5
Lecce 5
Lima 5
Ninh Bình 5
Palermo 5
Querétaro 5
Reggio Emilia 5
San Francisco 5
Thái Bình 5
Woodbridge 5
Totale 6.179
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Nome #
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 205
Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder 204
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study 182
Women with TSC : Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis 168
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights 166
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 165
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome 158
Epilepsy in ring chromosome 20 syndrome 156
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature 153
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature 153
Exploring the role of matrix metalloproteinases as biomarkers in sporadic lymphangioleiomyomatosis and tuberous sclerosis complex. A pilot study 152
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 151
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 150
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 148
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 145
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis : More pathological findings in the same chest CT, or a single pathological pathway? 144
Phenotypes in adult patients with Rett syndrome : results of a 13-year experience and insights into healthcare transition 144
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 144
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature 143
Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers 140
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 139
Aortic dilation in Sotos syndrome : an underestimated feature? 138
Electroclinical findings in DUPXQ28 syndrome 134
Prenatal and postnatal findings in five cases of Fryns syndrome 134
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 133
Sleep and behavior in children and adolescents with tuberous sclerosis complex 128
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins : a genotype-phenotype analysis 128
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder 128
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 128
Dramatic relapse of seizures after everolimus withdrawal 125
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions 125
Current concepts on epilepsy management in tuberous sclerosis complex 125
Medical care of adolescents and women with Rett syndrome : an Italian study 124
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity 123
Epilepsy in adult patients with tuberous sclerosis complex 120
Natural history of adults with KBG syndrome: A physician-reported experience 119
Genetics, genomics, and genotype–phenotype correlations of TSC : Insights for clinical practice 118
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy 116
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation 115
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 115
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays 114
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes 114
Do patients with tuberous sclerosis complex have an increased risk for malignancies? 113
The TAND checklist: A useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1 112
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 111
Electroclinical pattern in MECP2 duplication syndrome : eight new reported cases and review of literature 111
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature 111
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study 108
Snyder-Robinson syndrome : a novel nonsense mutation in spermine synthase and expansion of the phenotype 107
Glioblastoma multiforme in a child with tuberous sclerosis complex 106
Hot water epilepsy and SYN1 variants 105
Long-term outcome of epilepsy with onset in the first three years of life: findings from a large cohort of patients 104
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 102
Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex 101
Hot water epilepsy : a video case of European boy with positive family history and subsequent non-reflex epilepsy 98
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism 97
Neonatal suppression-burst without epileptic seizures : Expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy 97
Snyder-Robinson syndrome : Synonym: Spermine Synthase Deficiency 97
Lennox-Gastaut syndrome in adulthood : Long-term clinical follow-up of 38 patients and analysis of their recorded seizures 97
Ictal signs in tuberous sclerosis complex : clinical and video-EEG features in a large series of recorded seizures 97
Rhinencephalon changes in tuberous sclerosis complex 94
Negative atopy patch test and negative skin prick test reduce the need for oral food challenge in children with atopic dermatitis 92
Interstitial 6q microdeletion syndrome and epilepsy : a new patient and review of the literature 91
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World 89
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy 86
Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures? 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" 85
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background 85
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome 83
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature 83
Tuberous sclerosis complex 78
BCL11A-Related Intellectual Disability 68
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 60
Snyder-Robinson Syndrome 57
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome 56
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 41
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 41
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms 40
Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype 39
The European Certificate in Medical Genetics and Genomics (ECMGG) 37
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 34
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 33
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder 30
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal 30
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants 28
Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis 27
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype 24
Editorial: Pathogenic mechanisms in neurodevelopmental disorders: advances in cellular models and multi-omics approaches 21
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood 18
Marked hepatic fibrosis with progression towards cirrhosis in generalized arterial calcification of infancy: an unreported association observed in a case carryng a novel ENPP1 variant 11
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases 7
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review 5
Totale 9.447
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Categoria #
all - tutte 26.926
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 26.926
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2024/20253.602 63 282 158 388 938 649 52 262 109 173 253 275
2025/20265.217 477 922 907 532 383 112 454 234 260 214 239 483
2026/2027147 147 0 0 0 0 0 0 0 0 0 0 0
Totale 9.447