PERON, ANGELA
 Distribuzione geografica
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Continente #
AS - Asia 3.719
NA - Nord America 3.692
EU - Europa 1.886
SA - Sud America 512
Continente sconosciuto - Info sul continente non disponibili 101
AF - Africa 73
OC - Oceania 66
Totale 10.049
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Nazione #
US - Stati Uniti d'America 3.570
CN - Cina 1.211
SG - Singapore 941
RU - Federazione Russa 916
IT - Italia 566
HK - Hong Kong 530
BR - Brasile 403
KR - Corea 397
VN - Vietnam 257
IN - India 107
BD - Bangladesh 101
FR - Francia 96
CA - Canada 72
AU - Australia 66
FI - Finlandia 64
IE - Irlanda 49
JP - Giappone 44
AR - Argentina 40
GB - Regno Unito 39
SE - Svezia 34
DE - Germania 33
ID - Indonesia 32
NG - Nigeria 25
MX - Messico 23
NL - Olanda 23
IQ - Iraq 20
EC - Ecuador 19
CO - Colombia 16
PK - Pakistan 16
PL - Polonia 12
BJ - Benin 11
ES - Italia 11
ZA - Sudafrica 10
TR - Turchia 9
UA - Ucraina 9
PE - Perù 8
UZ - Uzbekistan 8
CL - Cile 7
DK - Danimarca 7
MA - Marocco 7
PY - Paraguay 7
VE - Venezuela 7
IL - Israele 6
AE - Emirati Arabi Uniti 5
AT - Austria 5
KE - Kenya 5
TT - Trinidad e Tobago 5
AZ - Azerbaigian 4
JM - Giamaica 4
MY - Malesia 4
NI - Nicaragua 4
NP - Nepal 4
PH - Filippine 4
PR - Porto Rico 4
BB - Barbados 3
BO - Bolivia 3
GT - Guatemala 3
LT - Lituania 3
TN - Tunisia 3
TW - Taiwan 3
AL - Albania 2
BH - Bahrain 2
DZ - Algeria 2
EG - Egitto 2
ET - Etiopia 2
GR - Grecia 2
HR - Croazia 2
JO - Giordania 2
LB - Libano 2
MD - Moldavia 2
MG - Madagascar 2
PS - Palestinian Territory 2
PT - Portogallo 2
RS - Serbia 2
UY - Uruguay 2
AM - Armenia 1
AO - Angola 1
BG - Bulgaria 1
BS - Bahamas 1
BZ - Belize 1
CH - Svizzera 1
CI - Costa d'Avorio 1
GN - Guinea 1
HN - Honduras 1
IR - Iran 1
KH - Cambogia 1
LK - Sri Lanka 1
LV - Lettonia 1
MM - Myanmar 1
MT - Malta 1
NO - Norvegia 1
QA - Qatar 1
RO - Romania 1
SA - Arabia Saudita 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 9.949
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Città #
Santa Clara 1.341
Singapore 785
Hefei 581
Hong Kong 525
Ashburn 397
Seoul 396
San Jose 293
Council Bluffs 143
Milan 135
Beijing 97
Ho Chi Minh City 97
Los Angeles 96
Moscow 80
Lauterbourg 71
Melbourne 62
Chicago 60
Rome 59
Hanoi 56
Kent 56
Buffalo 51
Dublin 50
Sioux Falls 48
Phoenix 47
Bengaluru 40
Tokyo 38
New York 37
The Dalles 37
Helsinki 36
Mumbai 35
West Jordan 31
Wapato 30
Lappeenranta 27
São Paulo 27
Naples 26
Abuja 25
Upper Darby 22
Jakarta 19
Shanghai 18
Fairfield 17
Florence 16
Bologna 15
Dallas 15
Houston 15
Salt Lake City 15
Toronto 15
Guangzhou 14
Fairborn 13
Haiphong 13
Miano 13
São José de Ribamar 13
Boardman 12
London 12
Montreal 12
Orem 12
Seaford 12
Chennai 11
Cotonou 11
Dalmine 11
Porto Alegre 11
Mexico City 10
Turin 10
Atlanta 9
Cambridge 9
Dhaka 9
Paris 9
Rio de Janeiro 9
Seattle 9
Warsaw 9
Belo Horizonte 8
Brooklyn 8
Elk Grove Village 8
Thái Nguyên 8
Wilmington 8
Baghdad 7
Copenhagen 7
Denver 7
Faisalabad 7
Frankfurt am Main 7
Nuremberg 7
Pittsburgh 7
Quito 7
Sterling 7
Tampa 7
Bari 6
Bergamo 6
Boston 6
Brasília 6
Cardiff 6
Córdoba 6
Da Nang 6
Figino 6
Miami 6
Palermo 6
Poplar 6
Ribeirão Preto 6
Salvador 6
Tashkent 6
Brescia 5
Bắc Ninh 5
Goiânia 5
Totale 6.544
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Nome #
Snyder-Robinson Syndrome 267
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 209
Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder 207
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study 185
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights 173
Women with TSC : Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis 170
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 168
Epilepsy in ring chromosome 20 syndrome 166
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome 164
Exploring the role of matrix metalloproteinases as biomarkers in sporadic lymphangioleiomyomatosis and tuberous sclerosis complex. A pilot study 159
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature 157
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature 156
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 155
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 152
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 152
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis : More pathological findings in the same chest CT, or a single pathological pathway? 150
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 149
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 148
Phenotypes in adult patients with Rett syndrome : results of a 13-year experience and insights into healthcare transition 148
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature 147
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 145
Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers 143
Aortic dilation in Sotos syndrome : an underestimated feature? 141
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 137
Electroclinical findings in DUPXQ28 syndrome 136
Prenatal and postnatal findings in five cases of Fryns syndrome 136
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder 134
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins : a genotype-phenotype analysis 133
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 131
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions 131
Sleep and behavior in children and adolescents with tuberous sclerosis complex 130
Dramatic relapse of seizures after everolimus withdrawal 129
Current concepts on epilepsy management in tuberous sclerosis complex 129
Medical care of adolescents and women with Rett syndrome : an Italian study 127
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity 126
Natural history of adults with KBG syndrome: A physician-reported experience 125
Epilepsy in adult patients with tuberous sclerosis complex 122
Genetics, genomics, and genotype–phenotype correlations of TSC : Insights for clinical practice 122
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes 120
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation 120
Do patients with tuberous sclerosis complex have an increased risk for malignancies? 119
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 119
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy 118
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays 117
The TAND checklist: A useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1 116
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 115
Electroclinical pattern in MECP2 duplication syndrome : eight new reported cases and review of literature 113
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature 113
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study 111
Long-term outcome of epilepsy with onset in the first three years of life: findings from a large cohort of patients 110
Hot water epilepsy and SYN1 variants 109
Snyder-Robinson syndrome : a novel nonsense mutation in spermine synthase and expansion of the phenotype 109
Glioblastoma multiforme in a child with tuberous sclerosis complex 106
Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex 105
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 103
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism 101
Snyder-Robinson syndrome : Synonym: Spermine Synthase Deficiency 100
Hot water epilepsy : a video case of European boy with positive family history and subsequent non-reflex epilepsy 100
Lennox-Gastaut syndrome in adulthood : Long-term clinical follow-up of 38 patients and analysis of their recorded seizures 100
Ictal signs in tuberous sclerosis complex : clinical and video-EEG features in a large series of recorded seizures 100
Neonatal suppression-burst without epileptic seizures : Expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy 99
Rhinencephalon changes in tuberous sclerosis complex 97
Interstitial 6q microdeletion syndrome and epilepsy : a new patient and review of the literature 95
Negative atopy patch test and negative skin prick test reduce the need for oral food challenge in children with atopic dermatitis 94
Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures? 91
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy 90
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World 90
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" 89
BCL11A-Related Intellectual Disability 88
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background 88
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature 87
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome 86
Tuberous sclerosis complex 80
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 67
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome 66
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms 48
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 46
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 45
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 44
Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype 43
The European Certificate in Medical Genetics and Genomics (ECMGG) 42
Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis 39
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 37
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype 33
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder 33
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal 33
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants 32
Editorial: Pathogenic mechanisms in neurodevelopmental disorders: advances in cellular models and multi-omics approaches 25
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood 22
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 17
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases 12
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review 8
Totale 10.049
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Categoria #
all - tutte 28.597
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 28.597
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/202212 0 0 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
2026/2027749 377 190 182 0 0 0 0 0 0 0 0 0
Totale 10.049