CINECA IRIS Institutional Research Information System

GIORGIO, ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 8.199
EU - Europa 6.412
AS - Asia 3.076
SA - Sud America 247
OC - Oceania 186
AF - Africa 52
Continente sconosciuto - Info sul continente non disponibili 7
Totale 18.179
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Nazione #
US - Stati Uniti d'America 7.848
IT - Italia 2.271
CN - Cina 1.444
DE - Germania 665
IE - Irlanda 511
FR - Francia 488
SG - Singapore 482
SE - Svezia 398
GB - Regno Unito 383
ES - Italia 277
CA - Canada 273
JP - Giappone 270
AT - Austria 235
FI - Finlandia 231
KR - Corea 155
AU - Australia 154
UA - Ucraina 148
BR - Brasile 142
PL - Polonia 131
IN - India 121
NL - Olanda 119
BE - Belgio 104
VN - Vietnam 103
TR - Turchia 100
HK - Hong Kong 97
IL - Israele 74
RU - Federazione Russa 73
TW - Taiwan 70
ID - Indonesia 61
MX - Messico 60
BA - Bosnia-Erzegovina 57
CH - Svizzera 57
DK - Danimarca 46
AR - Argentina 45
PT - Portogallo 42
RO - Romania 37
GR - Grecia 32
NZ - Nuova Zelanda 32
NO - Norvegia 29
CO - Colombia 26
SN - Senegal 25
CZ - Repubblica Ceca 23
CL - Cile 18
PK - Pakistan 15
AE - Emirati Arabi Uniti 13
HU - Ungheria 13
SA - Arabia Saudita 12
CR - Costa Rica 11
IR - Iran 10
PE - Perù 9
ZA - Sudafrica 9
SI - Slovenia 8
EU - Europa 7
TH - Thailandia 7
MY - Malesia 6
RS - Serbia 6
BO - Bolivia 5
MK - Macedonia 5
CY - Cipro 4
HR - Croazia 4
JO - Giordania 4
KW - Kuwait 4
PH - Filippine 4
PS - Palestinian Territory 4
TN - Tunisia 4
BD - Bangladesh 3
EG - Egitto 3
IQ - Iraq 3
LV - Lettonia 3
MT - Malta 3
NG - Nigeria 3
SK - Slovacchia (Repubblica Slovacca) 3
UZ - Uzbekistan 3
BG - Bulgaria 2
LU - Lussemburgo 2
MA - Marocco 2
ME - Montenegro 2
MO - Macao, regione amministrativa speciale della Cina 2
PR - Porto Rico 2
QA - Qatar 2
AN - Antille olandesi 1
BS - Bahamas 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
DZ - Algeria 1
EC - Ecuador 1
GT - Guatemala 1
HN - Honduras 1
IS - Islanda 1
JM - Giamaica 1
KZ - Kazakistan 1
LK - Sri Lanka 1
LT - Lituania 1
LY - Libia 1
MD - Moldavia 1
NP - Nepal 1
SC - Seychelles 1
SD - Sudan 1
TG - Togo 1
UY - Uruguay 1
Totale 18.179
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Città #
Chandler 734
Fairfield 496
Dublin 460
Houston 439
Torino 407
Beijing 405
Singapore 389
Ashburn 379
Redwood City 308
Woodbridge 248
Ann Arbor 231
Wilmington 230
Santa Clara 215
Vienna 213
Seattle 191
Cambridge 178
Turin 165
Villeurbanne 156
Shanghai 142
Nyköping 134
Milan 133
Dearborn 122
Columbus 101
Medford 95
Princeton 95
Warsaw 93
Pisa 92
Guangzhou 86
Rome 85
Jacksonville 68
New York 64
Toronto 64
Boston 62
Dong Ket 61
Helsinki 61
Tokyo 61
Paris 60
Nanjing 59
Jakarta 58
Los Angeles 56
San Diego 54
Washington 52
Genoa 50
Boardman 47
Munich 45
Edinburgh 42
Hangzhou 42
Fremont 41
Madrid 41
Bologna 40
Padova 40
Istanbul 38
Brussels 37
London 37
Barcelona 36
Seoul 36
Ottawa 35
Sarajevo 35
Chengdu 32
San Francisco 32
Wuhan 32
Chicago 31
Moscow 31
São Paulo 31
Tainan City 30
Changsha 29
Zhengzhou 29
Brisbane 28
Florence 27
New Haven 27
Philadelphia 27
Pavia 26
Sydney 26
Naples 24
Taipei 24
Buenos Aires 23
Kildare 23
Lyndhurst 23
Stuttgart 23
Dallas 22
Hong Kong 22
Irvine 21
Roda De Bará 21
Silver Spring 21
Bethesda 20
Chongqing 20
Jinan 20
Changchun 19
Kunming 19
Melbourne 19
Montreal 19
Pittsburgh 19
Rochester 19
Buffalo 18
Hefei 18
Mountain View 18
Phoenix 18
Tianjin 18
North York 17
Brescia 16
Totale 9.426
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Nome #
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 1.883
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 736
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 620
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 523
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 509
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 488
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 467
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 458
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 453
Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie 426
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 407
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5) 407
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 358
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 356
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 334
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 320
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 319
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 299
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification 280
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 257
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 254
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 249
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 245
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 233
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 229
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 227
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment. 224
Novel mutation of SLC20A2 in an Italian patient presenting with migraine. 210
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 210
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 209
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 209
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 209
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 202
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 201
Recessive gene disruptions in autism spectrum disorder 201
L’APLOTIPO H1 DEL GENE DELLA PROTEINA TAU (MAPT) È ASSOCIATO CON IL DISTURBO COGNITIVO LIEVE, UNA CONDIZIONE PRODROMICA ALLA MALATTIA DI ALZHEIMER 191
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD) 191
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 186
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 160
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 159
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models 154
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 150
O056. Migraine as presenting symptom of SLC20A2gene mutations 129
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance 120
Messanger RNA processing is altered in autosomal dominant leukodystrophy. 114
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM 110
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 108
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 108
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 107
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 106
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 105
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 103
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 102
LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD) ASSOCIATA A DUPLICAZIONE DEL GENE LMNB1: IDENTIFICAZIONE DEI BREAKPOINT E STUDIO DELL’ESPRESSIONE IN OTTO FAMIGLIE 101
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH 97
Cover Image, Volume 170A, Number 7, July 2016 96
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET 95
High miR-100 expression is associated with aggressive features and modulates TORC1 complex activation in lung carcinoids 93
A LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1 92
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease 92
ANALISI DI VARIANTI PROPRIE DEL PRECURSORE DEL NERVE GROWTH FACTOR (PRONGF) IN PAZIENTI AFFETTI DA MALATTIA DI ALZHEIMER. 89
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 87
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy 85
Strategie molecolari per la correzione di anomalie cromosomiche 85
Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes 85
Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients 82
Functional and clinical implications of genetic structure in 1686 Italian exomes 79
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY 78
A large genomic deletion upstream of the lamin B1 gene (LMNB1) likely causes adult-onset autosomal dominant leukodystrophy due to alteration of the regulatory landscape of LMNB1 78
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 78
UNA DELEZIONE DI 660 KB A MONTE DEL GENE LAMINA B1 (LMNB1) HA UN EFFETTO ANALOGO ALLA SUA DUPLICAZIONE GENICA E CAUSA LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD) 77
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy 75
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study 75
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 74
AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE 72
An atypical form of progressive extreme heterotopic calcification in a patient with a de novo insertional translocation der(X)ins(X;2)(q26.1;p13.3) 71
HUMAN IPSCS-DERIVED OLIGODENDROCYTES AND ASTROCYTES: A MODEL FOR AUTOSOMAL DOMINANT LEUKODYSTROPHY 63
CHALLENGES IN MEDICAL GENETICS: EXOME SEQUENCING UNCOVERS RECESSIVE MUTATIONS IN TWO CASES WITH DE NOVO CNV. 63
AN ATYPICAL FORM OF PROGRESSIVE EXTREME HETEROTOPIC CALCIFICATION IN A PATIENT WITH A DE NOVO INSERTIONAL TRANSLOCATION DER(X)INS(X;2)(Q26.1;P13.3) 63
A SPORADIC CASE OF AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD) 61
LAMIN B1 DYSREGULATION IN AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): GENETICS AND BIOLOGICAL MECHANISMS 60
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 60
SLC20A1 Is Involved in Urinary Tract and Urorectal Development 60
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 55
UNA DELEZIONE DI 660 KB A MONTE DEL GENE LAMINA B1 (LMNB1) HA UN EFFETTO ANALOGO ALLA SUA DUPLICAZIONE GENICA E CAUSA LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD) 54
Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity 50
SINDROMI LERI-WEILL/LANGER E MUTAZIONI NELLA “REGIONE SHOX” 49
VALIDITA' DEI DATI FARMACOGENETICI NEL PREDIRE IL DOSAGGIO INIZIALE DEL WARFARIN: STUDIO PILOTA IN UN SERVIZIO OSPEDALIERO. 46
Una delezione a monte del gene LMNB1 causa la leucodistrofia autosomica dominante dell’adulto attraverso un effetto posizione. 46
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 46
DLG4-related synaptopathy: a new rare brain disorder 45
UN CASO DI GRAVE REAZIONE AVVERSA AL 5-FLUOROURACILE ASSOCIATA A POLIMORFISMI DEL GENE DPYD: IMPLICAZIONI PER LO SVILUPPO DI PROTOCOLLI CLINICI BASATI SULLA FARMACOGENETICA 43
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation. 42
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 40
ESTIMATION OF WARFARIN DOSE DURING INITIAL ANTICOAGULATION: VALIDITY OF PREDICTION WITH PHARMACOGENETIC DATA 36
Electroclinical features and outcome of ANKRD11-related KBG syndrome: a novel report and literature review 35
HEALTH TECHNOLOGY ASSESSMENT OF GENETIC TESTING FOR SUSCEPTIBILITY TO VENOUS THROMBOEMBOLISM IN ITALY 34
UTILITÀ CLINICA DELLA RICERCA FARMACOGENETICA: RISULTATI DI UN PROGETTO PILOTA IN UNA REALTA’ OSPEDALIERA 34
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy 28
Human iPSCs-derived oligodendrocytes and astrocytes as the first Autosomal Dominant Leukodistrophy-relevant cellular models 24
Totale 18.688
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Categoria #
all - tutte 43.384
article - articoli 0
book - libri 0
conference - conferenze 9.636
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 53.020
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.331 0 0 0 0 0 316 209 180 213 205 108 100
2020/20213.581 111 291 349 432 441 418 480 258 185 213 157 246
2021/20222.356 125 118 152 316 157 187 131 148 122 160 454 286
2022/20233.051 224 245 119 274 248 555 254 255 374 124 178 201
2023/20242.139 204 260 170 149 156 229 141 155 54 169 185 267
2024/20251.536 130 196 198 316 507 189 0 0 0 0 0 0
Totale 18.711