IRIS
FAZZI, ELISA MARIA
 Distribuzione geografica
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Continente #
NA - Nord America 4.577
AS - Asia 3.398
EU - Europa 3.184
SA - Sud America 416
AF - Africa 147
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 5
AN - Antartide 1
Totale 11.743
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Nazione #
US - Stati Uniti d'America 4.485
CN - Cina 1.606
SG - Singapore 793
IE - Irlanda 705
DE - Germania 457
FI - Finlandia 377
HK - Hong Kong 349
RU - Federazione Russa 327
BR - Brasile 321
UA - Ucraina 314
VN - Vietnam 283
IT - Italia 282
FR - Francia 196
GB - Regno Unito 191
SE - Svezia 118
IN - India 85
ZA - Sudafrica 79
BE - Belgio 52
JP - Giappone 41
NL - Olanda 41
CA - Canada 37
AR - Argentina 35
IQ - Iraq 35
MX - Messico 33
BD - Bangladesh 29
TR - Turchia 24
ES - Italia 23
PK - Pakistan 23
PL - Polonia 23
AT - Austria 21
UZ - Uzbekistan 19
PH - Filippine 16
VE - Venezuela 16
CZ - Repubblica Ceca 15
MA - Marocco 15
SA - Arabia Saudita 13
CO - Colombia 12
DZ - Algeria 11
JO - Giordania 11
LT - Lituania 10
AU - Australia 9
EC - Ecuador 9
MY - Malesia 9
TN - Tunisia 9
AE - Emirati Arabi Uniti 8
BO - Bolivia 8
KE - Kenya 8
ET - Etiopia 7
ID - Indonesia 7
IL - Israele 7
CH - Svizzera 6
AZ - Azerbaigian 5
CL - Cile 5
EU - Europa 5
NP - Nepal 5
OM - Oman 5
PE - Perù 5
EG - Egitto 4
RO - Romania 4
UY - Uruguay 4
DK - Danimarca 3
DO - Repubblica Dominicana 3
LV - Lettonia 3
MU - Mauritius 3
NZ - Nuova Zelanda 3
PA - Panama 3
PT - Portogallo 3
TH - Thailandia 3
TZ - Tanzania 3
AM - Armenia 2
AO - Angola 2
BB - Barbados 2
BH - Bahrain 2
BY - Bielorussia 2
CR - Costa Rica 2
GR - Grecia 2
HN - Honduras 2
KG - Kirghizistan 2
KH - Cambogia 2
LB - Libano 2
MD - Moldavia 2
NC - Nuova Caledonia 2
NI - Nicaragua 2
SY - Repubblica araba siriana 2
TT - Trinidad e Tobago 2
AL - Albania 1
AQ - Antartide 1
BF - Burkina Faso 1
CG - Congo 1
CY - Cipro 1
GN - Guinea 1
GT - Guatemala 1
HR - Croazia 1
HT - Haiti 1
HU - Ungheria 1
IR - Iran 1
IS - Islanda 1
JM - Giamaica 1
KR - Corea 1
KZ - Kazakistan 1
Totale 11.726
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Città #
Dublin 703
Chandler 696
Singapore 428
Ashburn 418
Jacksonville 348
San Jose 347
Hong Kong 342
Nanjing 311
Beijing 309
Dallas 260
Munich 210
Boardman 198
Ann Arbor 163
Helsinki 150
Los Angeles 128
Nanchang 126
New York 117
Princeton 110
Lawrence 108
Lauterbourg 107
Medford 105
Wilmington 100
Shenyang 99
Ho Chi Minh City 95
Hebei 80
Changsha 79
Jiaxing 74
Shanghai 69
Moscow 68
Hanoi 66
Johannesburg 64
Tianjin 57
Turku 56
Milan 50
Buffalo 49
Brussels 47
Hangzhou 45
Woodbridge 42
Tokyo 39
Orem 34
Redondo Beach 29
Chicago 27
São Paulo 27
Frankfurt am Main 26
Santa Clara 25
Atlanta 22
Verona 22
Falkenstein 21
London 21
Warsaw 21
Seattle 20
Denver 19
Des Moines 19
Norwalk 19
Toronto 19
Amsterdam 18
Chennai 18
Houston 18
Tashkent 18
Piscataway 17
Stockholm 17
Poplar 16
Washington 15
San Francisco 14
Boston 13
Nuremberg 13
The Dalles 13
Brooklyn 12
Guangzhou 12
Pavia 12
Rio de Janeiro 12
Baghdad 11
Fairfield 11
Belo Horizonte 10
Haiphong 10
Kunming 10
Manchester 10
Phoenix 10
Pune 10
Querétaro 10
Amman 9
Brescia 9
Da Nang 9
Columbus 8
Jinan 8
Mexico City 8
Mumbai 8
Ningbo 8
Vienna 8
Zhengzhou 8
Addis Ababa 7
Auburn Hills 7
Brno 7
Bến Tre 7
Cambridge 7
Chieti 7
Düsseldorf 7
Lahore 7
Nairobi 7
Olomouc 7
Totale 7.717
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Nome #
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature 270
Caractèristiques Neorophtalmologiques des Deficiences Visuelles d'Origine centrale liees aux malformations du developpement cortical. 163
Controlli longitudinali mediante Potenziali evocati visivi e acuità visiva soggettiva in bambini affetti da Cerebral Visual Impairment: efficacia della riabilitazione visiva 154
Visual function recovery after early acquired occipital damage in a child: report of a case. 145
Spectrum of visual disorders in children with cerebral visual impairment. 145
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 144
Leber's congenital amaurosis: is there an autistic component? 142
Aicardi-Goutieres syndrome, a rare neurological disease in children: A new autoimmune disorder? 140
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 140
Sequele oftalmologiche nel bambino nato pretermine - XX Convegno S.I.N. 140
Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome. 139
Aprassia oculomotoria congenita : riflessioni cliniche e riabilitative 138
Cognitive visual dysfunctions in preterm children with periventricular leukomalacia. 137
Andamento dei potenziali evocati visivi a diverse frequenze spaziali e dell’acuità visiva in oltre 100 bambini affetti da cerebral visual impairment 137
Analisi epidemiologica dei movimenti oculari e vizi refrattivi in una coorte di bambini affetti da cvi 136
Clinical and molecular phenotype of aicardi-goutieres syndrome. 135
Lo sviluppo della visione nell'età evolutiva. In 'Oftalmologia Pediatrica'Cap. 1 Benedetto Ricci 128
Sviluppo della visione nei prematuri:uno studio elettrofisiologico 124
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 124
A questionnaire on sleep behaviour in the first years of life: preliminary results from a normative sample 123
Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association 121
Improvement of visual acuity and visual evoked patterned potentials done at different spatial frequencies after rehabilitation in 30 subjects affected by Cerebral Visual Impairment 121
Deficit di cianocobalamina e distrofia retinica: caso clinico 120
Cerebral visual impairment in periventricular leukomalacia. 120
Implicazioni non retiniche della prematurità : CVI, aspetti fisiopatogenici 120
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings 120
Patologie oftalmoscopicamente silenti. 119
Age level vs grade level for the diagnosis of ADHD and neurodevelopmental disorders 119
Time for a consensus conference on pain in neurorehabilitation 119
What is the role of the placebo effect for pain relief in neurorehabilitation? Clinical implications from the Italian consensus conference on pain in neurorehabilitation 119
Deficit visivo di origine psichica: 2 casi di spasmo accomodativi. 117
Miglioramento dell'acuità visiva e dei potenziali evocati visivi eseguiti a differenti frequenze spaziali dopo riabilitazione in 30 soggetti affetti da cerebral visual impairment 115
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 115
Infant sex, obstetric risk factors, and 2-year neurodevelopmental outcome among preterm infants. 114
Recovery of visual functions after early acquired occipital damage. 114
Cerebral visual impairment 114
Aicardi-Goutieres syndrome. 113
Controlli longitudinali mediante Potenziali evocati visivi e acuità visiva soggettiva in bambini affetti da Cerebral Visual Impairment: efficacia della riabilitazione visiva. 113
Deficit sensoriali visivi: riabilitazione 112
Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial 112
Reach on sound: a key to object permanence in visually impaired children. 111
Cerebral visual impairment in periventricular leukomalacia: MR correlation. 111
Factors predicting the efficacy of botulinum toxin-A treatment of the lower limb in children with cerebral palsy 111
Problematiche neurologiche 109
Cognitive visual dysfunctions in preterm children with periventricular leukomalacia. 108
Deficit sensoriali visivi: clinica 108
Transient nystagmus in delayed visual maturation. 108
Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy. 108
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 108
Relationship between visual acuity, visual evoked patterned potentials done at different spatial frequencies and fundus findings in more than 100 Cerebral Visual Impairment affected subjects. 106
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 103
Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene 102
Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function 101
Analysis of the correlation between three methods used in the assessment of children with cerebral palsy. 101
Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): Study protocol for a multicentric longitudinal project 101
Improvement of visual acuity and visual evoked patterned potentials done at different spatial frequencies after rehabilitation in 45 subjects affected by Cerebral Visual Impairment 100
Developmental Outcomes of Aicardi Goutières Syndrome 99
Changes in the optic disc excavation of children affected by cerebral visual impairment: a tomographic analysis 98
The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients 97
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 97
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features 97
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients 96
Outcome of extremely low birth weight infants: what's new in the third millennium? Neuropsychological profiles at four years. 95
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 95
Depression and Anxiety in Mothers Who Were Pregnant During the COVID-19 Outbreak in Northern Italy: The Role of Pandemic-Related Emotional Stress and Perceived Social Support 95
Novel and emerging treatments for Aicardi-Goutières syndrome 93
Benign Paroxysmal Vertigo of Childhood: A Long-Term Follow-Up 93
Obstetric risk factors and persistent increases in brain parenchymal echogenicity in preterm infants 92
Development of a neurologic severity scale for Aicardi Goutières Syndrome 92
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. 90
Interferon-Related Transcriptome Alterations in the Cerebrospinal Fluid Cells of Aicardi-Goutières Patients. 90
Disturbi della motilità oculare: fisiopatologia e riabilitazione 90
Valore predittivo dell'ERG 30Hz e a componente mista durante l'anestesia generale in pazienti affette da diverse patologie oculari : 10 anni di studio 90
Two-year infant neurodevelopmental outcome after single or multiple antenatal courses of corticosteroids to prevent complications of prematurity 90
Visual acuity in the first two years of life in healthy term newborns: an experience with the teller acuity cards. 89
Early Parenting Intervention-Biobehavioral Outcomes in infants with Neurodevelopmental Disabilities (EPI-BOND): Study protocol for an Italian multicentre randomised controlled trial 89
Recovery of visual functions after early acquired occipital damage. 88
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis 88
Neurochemical evidence to implicate elevated glutamate in the mechanisms of high intraocular pressure (IOP)-induced retinal ganglion cell death in rat 86
Commentary on “Catatonia in a Patient with Aicardi-Goutières Syndrome Efficiently Treated with Immunoadsorption” 86
Ciguatera poisoning in early pregnancy and severe visual impairment in the child: a case report. 85
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1 84
Early intervention in visually impaired children 83
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders 83
Visual impairment in cerebral palsy 82
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection 82
Obsteric risk factors and persistent increases in brain parenchymal echogenicity in preterm infants 81
Post-partum Women’s Anxiety and Parenting Stress: Home-Visiting Protective Effect During the COVID-19 Pandemic 80
Fate of melatonin orally administered in preterm newborns: Antioxidant performance and basis for neuroprotection 80
Preeclampsia, preterm delivery and infant cerebral palsy. 80
Cognitive profiles and visuoperceptual abilities in preterm and term spastic diplegic children with periventricular leukomalacia. 78
Ciguatera poisoning in early pregnancy and severe visual impairment in the child: a case report. 78
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 77
The Aicardi-Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload. 77
Rational basis for the development of coenzyme Q10 as a neurotherapeutic agent for retinal protection. 77
Meconium-stained amniotic fluid and risk for cerebral palsy in preterm infants 76
Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis 75
Benign Hereditary Chorea as a Manifestation of HPCA Mutation 75
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 73
Neurodevelopmental evolution of West syndrome: a 2-year prospective study 72
Totale 10.730
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Categoria #
all - tutte 44.494
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 44.494
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021170 0 0 0 0 0 0 0 0 0 80 72 18
2021/2022504 12 6 9 10 11 7 10 22 25 22 82 288
2022/20231.979 225 157 21 155 195 193 3 122 816 22 48 22
2023/2024758 97 98 31 51 60 201 18 42 1 26 61 72
2024/20252.064 49 132 46 59 54 164 131 167 511 101 224 426
2025/20263.819 345 261 391 471 545 209 795 201 382 219 0 0
Totale 11.819