IRIS
SANTORO, Claudia
 Distribuzione geografica
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Continente #
EU - Europa 2.422
AS - Asia 1.471
NA - Nord America 1.352
SA - Sud America 336
AF - Africa 22
Continente sconosciuto - Info sul continente non disponibili 3
Totale 5.606
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Nazione #
US - Stati Uniti d'America 1.325
RU - Federazione Russa 978
SG - Singapore 477
IE - Irlanda 455
IT - Italia 440
CN - Cina 333
HK - Hong Kong 291
BR - Brasile 287
GB - Regno Unito 146
DE - Germania 124
KR - Corea 112
VN - Vietnam 95
FR - Francia 66
JP - Giappone 54
UA - Ucraina 49
IN - India 44
GR - Grecia 31
FI - Finlandia 28
SE - Svezia 28
AR - Argentina 26
BE - Belgio 14
AT - Austria 11
CA - Canada 11
ID - Indonesia 11
TR - Turchia 11
NL - Olanda 10
MX - Messico 9
PL - Polonia 9
BD - Bangladesh 8
CZ - Repubblica Ceca 8
ZA - Sudafrica 8
BA - Bosnia-Erzegovina 7
IQ - Iraq 6
PY - Paraguay 6
EC - Ecuador 5
ES - Italia 5
AZ - Azerbaigian 4
PH - Filippine 4
PK - Pakistan 4
CL - Cile 3
JO - Giordania 3
MA - Marocco 3
PA - Panama 3
SN - Senegal 3
UY - Uruguay 3
VE - Venezuela 3
BH - Bahrain 2
CO - Colombia 2
DK - Danimarca 2
EG - Egitto 2
EU - Europa 2
NO - Norvegia 2
OM - Oman 2
RS - Serbia 2
SA - Arabia Saudita 2
TH - Thailandia 2
TN - Tunisia 2
TT - Trinidad e Tobago 2
UZ - Uzbekistan 2
AL - Albania 1
AM - Armenia 1
BG - Bulgaria 1
BO - Bolivia 1
CH - Svizzera 1
CI - Costa d'Avorio 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EE - Estonia 1
HN - Honduras 1
HU - Ungheria 1
KE - Kenya 1
KZ - Kazakistan 1
LT - Lituania 1
LV - Lettonia 1
NP - Nepal 1
SC - Seychelles 1
TL - Timor Orientale 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 5.606
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Città #
Dublin 451
Moscow 319
Hong Kong 289
Santa Clara 284
Singapore 206
Chandler 156
Seoul 111
Jacksonville 103
Naples 81
Beijing 59
Bremen 59
Princeton 57
Roxbury 55
Hefei 50
Ashburn 47
Caserta 46
Ho Chi Minh City 43
Boardman 39
Medford 35
The Dalles 33
Ann Arbor 31
New York 31
Bengaluru 29
Munich 25
Cambridge 24
Dallas 23
Napoli 22
Des Moines 18
Rome 18
São Paulo 18
Wilmington 17
Aversa 16
Hanoi 16
Ercolano 15
Los Angeles 15
Casoria 13
London 13
Brussels 12
Milan 12
Rio de Janeiro 11
Nanjing 10
Woodbridge 10
Redwood City 9
Brno 8
Eboli 8
Guangzhou 8
Hangzhou 8
Helsinki 8
Nuremberg 8
Warsaw 8
Genoa 7
Belo Horizonte 6
Curitiba 6
Lappeenranta 6
Norwalk 6
Sant'Anastasia 6
Scafati 6
Shenyang 6
Ariano Irpino 5
Buenos Aires 5
Falkenstein 5
Florence 5
Haiphong 5
Recife 5
San Mateo 5
Tianjin 5
Turku 5
Vienna 5
Vitória da Conquista 5
Zhengzhou 5
Amsterdam 4
Baku 4
Changsha 4
Dong Ket 4
Gradacac 4
Houston 4
Maceió 4
Mexico City 4
Ningbo 4
Nocera Inferiore 4
Palma Campania 4
Parma 4
San Felice A Cancello 4
Sorocaba 4
Tokyo 4
Ankara 3
Bari 3
Brasília 3
Brooklyn 3
Can Tho 3
Cape Town 3
Council Bluffs 3
Da Nang 3
Dakar 3
Delhi 3
Elora 3
Guarulhos 3
Isidro Casanova 3
Istanbul 3
Jakarta 3
Totale 3.201
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Nome #
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 129
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 124
Neuropsychiatric Manifestations, Reduced Self-Esteem and Poor Quality of Life in Children and Adolescents with Neurofibromatosis Type 1 (NF1): The Impact of Symptom Visibility and Bullying Behavior 120
Auditory cortex hypoperfusion: a metabolic hallmark in Beta Thalassemia 115
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 111
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 110
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 107
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 105
Concordanza tra visita oculistica e RM encefalo nello screening del glioma delle vie ottiche nei pazienti pediatrici con neurofibromatosi tipo 1 103
Multiple spinal nerve enlargement and SOS1 mutation: further evidence of overlap between Neurofibromatosis type 1 and Noonan phenotype 103
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 103
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 101
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 101
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations 99
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 96
Seizures in children with neurofibromatosis type 1: Is neurofibromatosis type 1 enough? 96
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: Case report 95
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review 94
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations 93
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort 93
Studio retrospettivo sulle complicanze emato-oncologiche nella neurofibromatosi tipo 1 in età pediatrica 90
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 88
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 87
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience 85
The endovanilloid/endocannabinoid system in human osteoclasts: Possible involvement in bone formation and resorption 84
Medullary unidentified bright objects in Neurofibromatosis type 1: A case series 83
Natural History of Scoliosis in Children with NF1: An Observation Study 83
La neurofibromatosi di Tipo 1 in età pediatrica 82
Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study 82
Early-Onset Central Diabetes Insipidus is Associated to de novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations. 81
Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome. 81
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 76
Diencephalic Syndrome Due to Optic Pathway Gliomas in Pediatric Patients: An Italian Multicenter Study 76
Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy 74
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 74
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 73
Neuropeptides’ hypothalamic regulation of sleep control in children affected by functional non‐retentive fecal incontinence 73
Aripiprazole-Induced Oculogyric Crisis: A Pediatric Case Series and A Brief Narrative Review 73
Epilepsy in Rett Syndrome: can seizures play an encephalopathic effect in this disorder? 72
Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion − α3.7. 70
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 69
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 69
Cutaneous findings in neurofibromatosis type 1 68
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 68
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 66
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 66
Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype 65
Consensus recommendations on management of selumetinib-associated adverse events in pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas 61
Genetics of Human Hydrocephalus 61
From Gardner fibroma diagnosis to constitutional APC mutation detection: a one-way street. 60
Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2 60
Epilepsy in NF1: a systematic review of the literature 60
Electroencephalographic abnormalities in autism spectrum disorder: Characteristics and therapeutic implications 60
Removal of Koos IV acoustic neuroma and auditory brainstem implant in NF2 patient 60
Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Parents and Patients, and the Role of Disease Severity and Visibility 58
Retrospective multicentric study on non-optic CNS tumors in children and adolescents with neurofibromatosis type 1 58
Do proton pump inhibitors reduce gastrointestinal complication when starting long-term non-steroidal anti-inflammatory drugs therapy? 57
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 57
Endoscopic Third Ventriculostomy in Patients with Neurofibromatosis Type 1: A Multicenter International Experience 56
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 54
Effects of Eltrombopag on In Vitro Macrophage Polarization in Pediatric Immune Thrombocytopenia 53
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome 53
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Epilepsy surgery in neurofibromatosis type 1: an overlooked therapeutic approach 52
High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome 51
Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association? 51
Oral clinical manifestations of neurofibromatosis type 1 in children and adolescents 50
Umbrella Review: Association Between Antipsychotic Drugs and Metabolic Syndrome Hallmarks in Children and Adolescents 49
Superimposed Blaschkoid lichen planus pigmentosus 48
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant 47
Multiple Burr-Hole Surgery for the Treatment of Moyamoya Disease and Quasi-Moyamoya Disease in Children: Preliminary Surgical and Imaging Results 45
Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs 45
Response letter to: Halo-like phenomenon in neurofibromatosis type 1: A potential new diagnostic criterion 44
Non-oncological neuroradiological manifestations in nf1 and their clinical implications 44
Polysomnographic study in pediatric neurofibromatosis type 1 42
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 41
Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009 40
Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding. 39
Clinical Efficacy of Selumetinib in Alleviating Neuropathic Pain Associated with Plexiform Neurofibroma: A Case Series 36
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer 17
Real-world experience with selumetinib in children with neurofibromatosis type 1: a multicentric retrospective study 15
Severe cervical kyphosis in a complex child with NF1, case report and literature review 13
Totale 5.846
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Categoria #
all - tutte 24.294
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 24.294
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021140 0 0 0 0 0 5 41 16 15 15 35 13
2021/2022423 14 8 16 18 116 8 18 14 12 40 40 119
2022/2023826 85 26 24 40 89 50 10 35 428 12 14 13
2023/2024341 24 6 27 20 106 25 21 5 4 10 35 58
2024/20251.294 10 24 10 37 232 184 159 137 114 153 121 113
2025/20262.267 196 288 270 303 480 730 0 0 0 0 0 0
Totale 5.846