IRIS
SANTORO, Claudia
 Distribuzione geografica
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Continente #
EU - Europa 1.152
NA - Nord America 798
AS - Asia 161
Continente sconosciuto - Info sul continente non disponibili 2
AF - Africa 1
Totale 2.114
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Nazione #
US - Stati Uniti d'America 792
IE - Irlanda 453
IT - Italia 281
GB - Regno Unito 120
DE - Germania 85
CN - Cina 67
SG - Singapore 66
FR - Francia 57
UA - Ucraina 48
GR - Grecia 31
SE - Svezia 25
FI - Finlandia 17
BE - Belgio 13
KR - Corea 13
CZ - Repubblica Ceca 8
BA - Bosnia-Erzegovina 5
CA - Canada 5
TR - Turchia 4
VN - Vietnam 4
ES - Italia 3
IN - India 3
EU - Europa 2
HK - Hong Kong 2
NL - Olanda 2
SA - Arabia Saudita 2
AL - Albania 1
CH - Svizzera 1
NO - Norvegia 1
PA - Panama 1
RS - Serbia 1
SC - Seychelles 1
Totale 2.114
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Città #
Dublin 449
Chandler 156
Jacksonville 103
Bremen 59
Princeton 57
Roxbury 55
Caserta 46
Singapore 43
Boardman 35
Medford 35
Ann Arbor 31
Naples 26
Cambridge 24
Napoli 22
Des Moines 18
New York 18
Wilmington 17
Beijing 15
Seoul 13
Brussels 11
Ercolano 10
Nanjing 10
Woodbridge 10
Redwood City 9
Brno 8
Eboli 8
Rome 7
Norwalk 6
Sant'Anastasia 6
Scafati 6
Shenyang 6
Ariano Irpino 5
Florence 5
Lappeenranta 5
Milan 5
San Mateo 5
Dong Ket 4
Gradacac 4
London 4
Munich 4
Ningbo 4
Palma Campania 4
San Felice A Cancello 4
Tianjin 4
Zhengzhou 4
Ashburn 3
Elora 3
Hangzhou 3
Helsinki 3
Mountain View 3
Nocera Superiore 3
Oxford 3
Auburn Hills 2
Casalnuovo di Napoli 2
Casavatore 2
Council Bluffs 2
Düsseldorf 2
Fairfield 2
Gavirate 2
Genoa 2
Giugliano in Campania 2
Grottaferrata 2
Haikou 2
Houston 2
Lanzhou 2
Los Angeles 2
Madrid 2
Messina 2
Nanchang 2
Nocera Inferiore 2
Pozzuoli 2
Riyadh 2
Rotella 2
Salerno 2
San Giorgio A Cremano 2
Shanghai 2
Telese 2
Turnhout 2
Tübingen 2
Vicenza 2
Agropoli 1
Albanella 1
Aligarh 1
Andover 1
Avellino 1
Bacoli 1
Candiolo 1
Cazzano 1
Centrale 1
Chongqing 1
Collegeville 1
Delhi 1
Den Haag 1
Fushan 1
Grafing 1
Grammichele 1
Groningen 1
Hebei 1
Kraljevo 1
Kunming 1
Totale 1.477
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Nome #
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 72
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 71
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 70
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations 69
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 61
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 60
Concordanza tra visita oculistica e RM encefalo nello screening del glioma delle vie ottiche nei pazienti pediatrici con neurofibromatosi tipo 1 59
Studio retrospettivo sulle complicanze emato-oncologiche nella neurofibromatosi tipo 1 in età pediatrica 59
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: Case report 58
Seizures in children with neurofibromatosis type 1: Is neurofibromatosis type 1 enough? 58
Multiple spinal nerve enlargement and SOS1 mutation: further evidence of overlap between Neurofibromatosis type 1 and Noonan phenotype 56
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 56
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 53
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience 53
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 52
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 48
Auditory cortex hypoperfusion: a metabolic hallmark in Beta Thalassemia 48
Early-Onset Central Diabetes Insipidus is Associated to de novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations. 47
Natural History of Scoliosis in Children with NF1: An Observation Study 45
Medullary unidentified bright objects in Neurofibromatosis type 1: A case series 44
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 44
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 43
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 41
Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome. 39
Neuropeptides’ hypothalamic regulation of sleep control in children affected by functional non‐retentive fecal incontinence 38
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 38
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 37
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 36
Epilepsy in Rett Syndrome: can seizures play an encephalopathic effect in this disorder? 35
Endoscopic Third Ventriculostomy in Patients with Neurofibromatosis Type 1: A Multicenter International Experience 33
Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion − α3.7. 33
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort 32
The endovanilloid/endocannabinoid system in human osteoclasts: Possible involvement in bone formation and resorption 32
Epilepsy in NF1: a systematic review of the literature 32
Electroencephalographic abnormalities in autism spectrum disorder: Characteristics and therapeutic implications 31
Effects of Eltrombopag on In Vitro Macrophage Polarization in Pediatric Immune Thrombocytopenia 31
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 31
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 30
Cutaneous findings in neurofibromatosis type 1 30
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations 28
Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy 28
Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2 27
Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study 27
Diencephalic Syndrome Due to Optic Pathway Gliomas in Pediatric Patients: An Italian Multicenter Study 27
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 26
Aripiprazole-Induced Oculogyric Crisis: A Pediatric Case Series and A Brief Narrative Review 26
From Gardner fibroma diagnosis to constitutional APC mutation detection: a one-way street. 24
Genetics of Human Hydrocephalus 23
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 23
Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association? 21
High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome 19
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome 19
Epilepsy surgery in neurofibromatosis type 1: an overlooked therapeutic approach 19
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 18
Superimposed Blaschkoid lichen planus pigmentosus 18
Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs 18
Removal of Koos IV acoustic neuroma and auditory brainstem implant in NF2 patient 18
Multiple Burr-Hole Surgery for the Treatment of Moyamoya Disease and Quasi-Moyamoya Disease in Children: Preliminary Surgical and Imaging Results 17
Oral clinical manifestations of neurofibromatosis type 1 in children and adolescents 17
Retrospective multicentric study on non-optic CNS tumors in children and adolescents with neurofibromatosis type 1 15
Non-oncological neuroradiological manifestations in nf1 and their clinical implications 15
Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype 9
Polysomnographic study in pediatric neurofibromatosis type 1 9
Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding. 8
Umbrella Review: Association Between Antipsychotic Drugs and Metabolic Syndrome Hallmarks in Children and Adolescents 6
Do proton pump inhibitors reduce gastrointestinal complication when starting long-term non-steroidal anti-inflammatory drugs therapy? 6
Response letter to: Halo-like phenomenon in neurofibromatosis type 1: A potential new diagnostic criterion 3
Totale 2.319
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Categoria #
all - tutte 11.907
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 11.907
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020177 0 0 28 28 19 10 31 8 11 9 30 3
2020/2021256 16 1 20 45 34 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
2024/202534 10 24 0 0 0 0 0 0 0 0 0 0
Totale 2.319