IRIS
SANTORO, Claudia
 Distribuzione geografica
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Continente #
EU - Europa 4.728
AS - Asia 1.801
NA - Nord America 1.704
SA - Sud America 347
AF - Africa 30
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 1
Totale 8.614
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Nazione #
RU - Federazione Russa 3.196
US - Stati Uniti d'America 1.658
SG - Singapore 547
IT - Italia 484
IE - Irlanda 455
CN - Cina 367
HK - Hong Kong 309
BR - Brasile 296
VN - Vietnam 272
GB - Regno Unito 152
DE - Germania 133
KR - Corea 112
FR - Francia 68
JP - Giappone 59
IN - India 50
UA - Ucraina 50
GR - Grecia 32
SE - Svezia 29
FI - Finlandia 28
AR - Argentina 26
NL - Olanda 25
CA - Canada 20
MX - Messico 17
BE - Belgio 14
AT - Austria 13
BD - Bangladesh 13
ID - Indonesia 12
PL - Polonia 12
TR - Turchia 12
IQ - Iraq 10
CZ - Repubblica Ceca 8
PH - Filippine 8
ZA - Sudafrica 8
BA - Bosnia-Erzegovina 7
ES - Italia 7
EC - Ecuador 6
PY - Paraguay 6
AZ - Azerbaigian 4
CL - Cile 4
DZ - Algeria 4
MA - Marocco 4
PK - Pakistan 4
JO - Giordania 3
OM - Oman 3
PA - Panama 3
SN - Senegal 3
TN - Tunisia 3
UY - Uruguay 3
VE - Venezuela 3
BH - Bahrain 2
CO - Colombia 2
DK - Danimarca 2
DO - Repubblica Dominicana 2
EG - Egitto 2
EU - Europa 2
KE - Kenya 2
NO - Norvegia 2
RS - Serbia 2
SA - Arabia Saudita 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
UZ - Uzbekistan 2
AL - Albania 1
AM - Armenia 1
AU - Australia 1
BG - Bulgaria 1
BO - Bolivia 1
BW - Botswana 1
CH - Svizzera 1
CI - Costa d'Avorio 1
EE - Estonia 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
IR - Iran 1
KZ - Kazakistan 1
LT - Lituania 1
LV - Lettonia 1
NG - Nigeria 1
NP - Nepal 1
PS - Palestinian Territory 1
SC - Seychelles 1
SI - Slovenia 1
SV - El Salvador 1
TL - Timor Orientale 1
TW - Taiwan 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 8.614
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Città #
Moscow 1.157
Dublin 451
Hong Kong 301
Santa Clara 285
Singapore 259
San Jose 178
Chandler 156
Seoul 111
Jacksonville 103
Ashburn 101
Ho Chi Minh City 101
Naples 98
Beijing 61
Hanoi 60
Bremen 59
Princeton 57
Roxbury 55
Hefei 50
Caserta 46
Boardman 39
New York 36
Medford 35
The Dalles 33
Ann Arbor 31
Bengaluru 29
Dallas 26
Los Angeles 26
Munich 25
Cambridge 24
Napoli 22
Amsterdam 19
Rome 19
São Paulo 19
Des Moines 18
Aversa 17
Wilmington 17
Ercolano 15
London 15
Milan 15
Da Nang 14
Casoria 13
Haiphong 13
Brussels 12
Rio de Janeiro 12
Warsaw 11
Nanjing 10
Woodbridge 10
Nuremberg 9
Redwood City 9
Brno 8
Eboli 8
Frankfurt am Main 8
Genoa 8
Guangzhou 8
Hangzhou 8
Helsinki 8
Mexico City 8
Tokyo 8
Council Bluffs 7
Curitiba 7
Belo Horizonte 6
Lappeenranta 6
Norwalk 6
Parma 6
Sant'Anastasia 6
Scafati 6
Shenyang 6
Thái Bình 6
Vienna 6
Andria 5
Ariano Irpino 5
Atlanta 5
Biên Hòa 5
Brooklyn 5
Buenos Aires 5
Can Tho 5
Falkenstein 5
Florence 5
Recife 5
San Mateo 5
Tianjin 5
Turku 5
Vitória da Conquista 5
Zhengzhou 5
Ankara 4
Baku 4
Changsha 4
Charlotte 4
Chennai 4
Dong Ket 4
Gradacac 4
Hillsboro 4
Houston 4
Jakarta 4
Maceió 4
Nha Trang 4
Ningbo 4
Ninh Bình 4
Nocera Inferiore 4
Orem 4
Totale 4.561
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Nome #
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 179
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 176
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 175
Auditory cortex hypoperfusion: a metabolic hallmark in Beta Thalassemia 171
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 160
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 154
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 153
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 148
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort 147
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 145
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 144
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations 142
Concordanza tra visita oculistica e RM encefalo nello screening del glioma delle vie ottiche nei pazienti pediatrici con neurofibromatosi tipo 1 142
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 140
Multiple spinal nerve enlargement and SOS1 mutation: further evidence of overlap between Neurofibromatosis type 1 and Noonan phenotype 137
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 137
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: Case report 135
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 134
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 132
La neurofibromatosi di Tipo 1 in età pediatrica 128
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations 128
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 126
Studio retrospettivo sulle complicanze emato-oncologiche nella neurofibromatosi tipo 1 in età pediatrica 125
The endovanilloid/endocannabinoid system in human osteoclasts: Possible involvement in bone formation and resorption 123
Seizures in children with neurofibromatosis type 1: Is neurofibromatosis type 1 enough? 122
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 122
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 120
Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome. 119
Aripiprazole-Induced Oculogyric Crisis: A Pediatric Case Series and A Brief Narrative Review 118
Diencephalic Syndrome Due to Optic Pathway Gliomas in Pediatric Patients: An Italian Multicenter Study 117
Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study 116
Cutaneous findings in neurofibromatosis type 1 116
Natural History of Scoliosis in Children with NF1: An Observation Study 116
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience 115
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 115
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 115
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 115
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 113
Early-Onset Central Diabetes Insipidus is Associated to de novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations. 111
Medullary unidentified bright objects in Neurofibromatosis type 1: A case series 110
Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy 110
Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Parents and Patients, and the Role of Disease Severity and Visibility 109
Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype 105
Consensus recommendations on management of selumetinib-associated adverse events in pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas 103
Neuropeptides’ hypothalamic regulation of sleep control in children affected by functional non‐retentive fecal incontinence 101
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 100
Do proton pump inhibitors reduce gastrointestinal complication when starting long-term non-steroidal anti-inflammatory drugs therapy? 99
Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion − α3.7. 99
Removal of Koos IV acoustic neuroma and auditory brainstem implant in NF2 patient 99
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 98
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 97
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 97
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 96
Effects of Eltrombopag on In Vitro Macrophage Polarization in Pediatric Immune Thrombocytopenia 96
Epilepsy in Rett Syndrome: can seizures play an encephalopathic effect in this disorder? 96
Electroencephalographic abnormalities in autism spectrum disorder: Characteristics and therapeutic implications 95
From Gardner fibroma diagnosis to constitutional APC mutation detection: a one-way street. 86
Retrospective multicentric study on non-optic CNS tumors in children and adolescents with neurofibromatosis type 1 86
Genetics of Human Hydrocephalus 84
Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2 83
Clinical Efficacy of Selumetinib in Alleviating Neuropathic Pain Associated with Plexiform Neurofibroma: A Case Series 82
Oral clinical manifestations of neurofibromatosis type 1 in children and adolescents 81
Epilepsy in NF1: a systematic review of the literature 80
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome 80
Endoscopic Third Ventriculostomy in Patients with Neurofibromatosis Type 1: A Multicenter International Experience 79
Epilepsy surgery in neurofibromatosis type 1: an overlooked therapeutic approach 79
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 78
Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs 77
Umbrella Review: Association Between Antipsychotic Drugs and Metabolic Syndrome Hallmarks in Children and Adolescents 76
High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome 75
Multiple Burr-Hole Surgery for the Treatment of Moyamoya Disease and Quasi-Moyamoya Disease in Children: Preliminary Surgical and Imaging Results 75
Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association? 74
Superimposed Blaschkoid lichen planus pigmentosus 71
Non-oncological neuroradiological manifestations in nf1 and their clinical implications 70
Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding. 70
Response letter to: Halo-like phenomenon in neurofibromatosis type 1: A potential new diagnostic criterion 69
Polysomnographic study in pediatric neurofibromatosis type 1 67
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 61
null 53
Severe cervical kyphosis in a complex child with NF1, case report and literature review 51
Real-world experience with selumetinib in children with neurofibromatosis type 1: a multicentric retrospective study 45
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer 41
Prevalence and management of lower limb segmental overgrowth in patients with NF1: an observational study 37
Cerebrovascular involvement in hereditary spherocytosis: observational cohort and case-control MRI study 5
Totale 8.856
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Categoria #
all - tutte 28.966
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 28.966
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202163 0 0 0 0 0 0 0 0 0 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
2025/20265.277 196 288 270 303 480 2.948 280 217 197 98 0 0
Totale 8.856