IRIS
SANTORO, Claudia
 Distribuzione geografica
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Continente #
EU - Europa 4.769
AS - Asia 1.821
NA - Nord America 1.794
SA - Sud America 347
AF - Africa 30
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 1
Totale 8.765
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Nazione #
RU - Federazione Russa 3.196
US - Stati Uniti d'America 1.743
SG - Singapore 553
IT - Italia 514
IE - Irlanda 455
CN - Cina 372
HK - Hong Kong 312
BR - Brasile 296
VN - Vietnam 272
GB - Regno Unito 154
DE - Germania 133
KR - Corea 112
FR - Francia 68
JP - Giappone 60
IN - India 50
UA - Ucraina 50
GR - Grecia 32
NL - Olanda 29
SE - Svezia 29
FI - Finlandia 28
AR - Argentina 26
CA - Canada 23
MX - Messico 18
BD - Bangladesh 17
BE - Belgio 14
AT - Austria 13
ID - Indonesia 12
PL - Polonia 12
TR - Turchia 12
IQ - Iraq 10
ES - Italia 9
CZ - Repubblica Ceca 8
PH - Filippine 8
ZA - Sudafrica 8
BA - Bosnia-Erzegovina 7
EC - Ecuador 6
PY - Paraguay 6
AZ - Azerbaigian 4
CH - Svizzera 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
NP - Nepal 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
CI - Costa d'Avorio 1
CR - Costa Rica 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
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 8.765
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Città #
Moscow 1.157
Dublin 451
Hong Kong 304
Santa Clara 286
Singapore 261
San Jose 214
Chandler 156
Ashburn 111
Seoul 111
Jacksonville 104
Naples 103
Ho Chi Minh City 101
Beijing 62
Hanoi 60
Bremen 59
Princeton 57
Roxbury 55
Hefei 50
Caserta 46
Boardman 39
New York 38
Medford 35
The Dalles 33
Ann Arbor 31
Los Angeles 31
Bengaluru 29
Dallas 28
Munich 25
Cambridge 24
Napoli 22
Amsterdam 20
Rome 19
São Paulo 19
Aversa 18
Des Moines 18
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
Memphis 9
Mexico City 9
Nuremberg 9
Redwood City 9
Brno 8
Eboli 8
Frankfurt am Main 8
Genoa 8
Guangzhou 8
Hangzhou 8
Helsinki 8
Tokyo 8
Council Bluffs 7
Curitiba 7
Turin 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
Giugliano in Campania 4
Gradacac 4
Hillsboro 4
Houston 4
Jakarta 4
Maceió 4
Montreal 4
Nha Trang 4
Totale 4.640
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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 185
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 181
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 176
Auditory cortex hypoperfusion: a metabolic hallmark in Beta Thalassemia 173
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 162
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 158
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 154
La neurofibromatosi di Tipo 1 in età pediatrica 152
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort 152
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 novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 147
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 146
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations 144
Concordanza tra visita oculistica e RM encefalo nello screening del glioma delle vie ottiche nei pazienti pediatrici con neurofibromatosi tipo 1 143
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 142
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 140
Multiple spinal nerve enlargement and SOS1 mutation: further evidence of overlap between Neurofibromatosis type 1 and Noonan phenotype 139
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: Case report 136
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 135
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 135
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations 129
Studio retrospettivo sulle complicanze emato-oncologiche nella neurofibromatosi tipo 1 in età pediatrica 126
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 126
The endovanilloid/endocannabinoid system in human osteoclasts: Possible involvement in bone formation and resorption 124
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 123
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 123
Seizures in children with neurofibromatosis type 1: Is neurofibromatosis type 1 enough? 122
Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome. 121
Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study 120
Natural History of Scoliosis in Children with NF1: An Observation Study 118
Aripiprazole-Induced Oculogyric Crisis: A Pediatric Case Series and A Brief Narrative Review 118
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience 117
Cutaneous findings in neurofibromatosis type 1 117
Diencephalic Syndrome Due to Optic Pathway Gliomas in Pediatric Patients: An Italian Multicenter Study 117
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 117
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 117
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 116
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 116
Medullary unidentified bright objects in Neurofibromatosis type 1: A case series 113
Early-Onset Central Diabetes Insipidus is Associated to de novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations. 112
Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Parents and Patients, and the Role of Disease Severity and Visibility 110
Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy 110
Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype 109
Consensus recommendations on management of selumetinib-associated adverse events in pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas 104
Neuropeptides’ hypothalamic regulation of sleep control in children affected by functional non‐retentive fecal incontinence 103
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 103
Removal of Koos IV acoustic neuroma and auditory brainstem implant in NF2 patient 102
Do proton pump inhibitors reduce gastrointestinal complication when starting long-term non-steroidal anti-inflammatory drugs therapy? 100
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 100
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 100
Effects of Eltrombopag on In Vitro Macrophage Polarization in Pediatric Immune Thrombocytopenia 99
Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion − α3.7. 99
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 98
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 97
Epilepsy in Rett Syndrome: can seizures play an encephalopathic effect in this disorder? 96
Electroencephalographic abnormalities in autism spectrum disorder: Characteristics and therapeutic implications 96
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
Clinical Efficacy of Selumetinib in Alleviating Neuropathic Pain Associated with Plexiform Neurofibroma: A Case Series 84
Genetics of Human Hydrocephalus 84
Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2 83
Epilepsy in NF1: a systematic review of the literature 81
Oral clinical manifestations of neurofibromatosis type 1 in children and adolescents 81
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome 80
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 79
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
Umbrella Review: Association Between Antipsychotic Drugs and Metabolic Syndrome Hallmarks in Children and Adolescents 78
Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs 78
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
Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding. 72
Superimposed Blaschkoid lichen planus pigmentosus 71
Response letter to: Halo-like phenomenon in neurofibromatosis type 1: A potential new diagnostic criterion 70
Non-oncological neuroradiological manifestations in nf1 and their clinical implications 70
Polysomnographic study in pediatric neurofibromatosis type 1 68
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 52
Real-world experience with selumetinib in children with neurofibromatosis type 1: a multicentric retrospective study 46
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer 43
Prevalence and management of lower limb segmental overgrowth in patients with NF1: an observational study 42
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases 7
Cerebrovascular involvement in hereditary spherocytosis: observational cohort and case-control MRI study 6
Totale 9.009
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Categoria #
all - tutte 30.773
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 30.773
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202113 0 0 0 0 0 0 0 0 0 0 0 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
2025/20265.430 196 288 270 303 480 2.948 280 217 197 117 95 39
Totale 9.009