CINECA IRIS Institutional Research Information System

DI GREGORIO, ELEONORA
 Distribuzione geografica
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Continente #
NA - Nord America 6.682
EU - Europa 5.394
AS - Asia 1.770
SA - Sud America 133
OC - Oceania 90
AF - Africa 35
Continente sconosciuto - Info sul continente non disponibili 2
Totale 14.106
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Nazione #
US - Stati Uniti d'America 6.460
IT - Italia 1.865
CN - Cina 838
DE - Germania 649
SE - Svezia 449
FR - Francia 419
IE - Irlanda 412
GB - Regno Unito 245
UA - Ucraina 234
FI - Finlandia 220
AT - Austria 192
SG - Singapore 188
CA - Canada 168
ES - Italia 166
KR - Corea 159
JP - Giappone 137
PL - Polonia 133
VN - Vietnam 109
IN - India 87
BR - Brasile 75
AU - Australia 74
BE - Belgio 61
HK - Hong Kong 55
TW - Taiwan 55
DK - Danimarca 52
NL - Olanda 50
MX - Messico 43
TR - Turchia 43
RO - Romania 36
RU - Federazione Russa 32
IL - Israele 31
CH - Svizzera 30
AR - Argentina 26
PT - Portogallo 25
CZ - Repubblica Ceca 24
GR - Grecia 22
SN - Senegal 17
CO - Colombia 16
NZ - Nuova Zelanda 16
NO - Norvegia 12
IR - Iran 11
RS - Serbia 11
HU - Ungheria 10
PK - Pakistan 10
BA - Bosnia-Erzegovina 9
ID - Indonesia 9
SI - Slovenia 9
CR - Costa Rica 8
CL - Cile 7
MY - Malesia 6
SK - Slovacchia (Repubblica Slovacca) 5
TH - Thailandia 5
TN - Tunisia 5
AE - Emirati Arabi Uniti 4
HR - Croazia 4
LV - Lettonia 4
PE - Perù 4
SA - Arabia Saudita 4
ZA - Sudafrica 4
BO - Bolivia 3
LU - Lussemburgo 3
MT - Malta 3
NG - Nigeria 3
UZ - Uzbekistan 3
BG - Bulgaria 2
EU - Europa 2
KZ - Kazakistan 2
LK - Sri Lanka 2
ME - Montenegro 2
MV - Maldive 2
PH - Filippine 2
PS - Palestinian Territory 2
BD - Bangladesh 1
BS - Bahamas 1
CI - Costa d'Avorio 1
CY - Cipro 1
DZ - Algeria 1
EC - Ecuador 1
EE - Estonia 1
EG - Egitto 1
HN - Honduras 1
IQ - Iraq 1
IS - Islanda 1
JO - Giordania 1
KW - Kuwait 1
MA - Marocco 1
MD - Moldavia 1
MK - Macedonia 1
MU - Mauritius 1
NP - Nepal 1
PR - Porto Rico 1
SD - Sudan 1
UY - Uruguay 1
Totale 14.106
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Città #
Chandler 762
Fairfield 419
Houston 405
Beijing 394
Dublin 387
Ann Arbor 353
Ashburn 331
Torino 314
Woodbridge 228
Redwood City 206
Wilmington 205
Vienna 183
Villeurbanne 181
Cambridge 167
Seattle 166
Nyköping 151
Dearborn 138
Singapore 108
Warsaw 108
Jacksonville 100
Medford 98
Princeton 97
Pisa 95
Milan 93
Turin 72
Dong Ket 69
Fremont 60
Rome 60
Boardman 56
Shanghai 51
Boston 50
Ottawa 46
Paris 45
Washington 45
Nanjing 41
Genoa 39
Toronto 39
Los Angeles 36
Helsinki 35
Guangzhou 32
Brussels 31
New York 30
Tainan City 30
Padova 29
San Diego 27
Florence 25
London 24
Tokyo 24
Barcelona 23
Edinburgh 23
Hangzhou 23
Roda De Bará 21
Seoul 21
Philadelphia 20
Nürnberg 19
Bologna 17
Hefei 17
Istanbul 17
Munich 17
Taipei 17
Changsha 15
Kunming 15
Lyndhurst 15
Naples 15
New Haven 15
Norwalk 15
Santa Clara 15
Silver Spring 15
São Paulo 15
Verona 15
Dallas 14
Phoenix 14
Wuhan 14
Catania 13
Madrid 13
Zhengzhou 13
Hong Kong 12
Mountain View 12
Chengdu 11
Chicago 11
Dresden 11
Jinan 11
Perth 11
Bari 10
Brescia 10
Brisbane 10
Buenos Aires 10
Falls Church 10
Isernia 10
Menlo Park 10
Napoli 10
Shenyang 10
Stanford 10
Strasbourg 10
Baltimore 9
Des Moines 9
Hamburg 9
Melbourne 9
Pavia 9
Atlanta 8
Totale 7.393
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Nome #
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 716
Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita 644
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 595
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 506
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 472
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 463
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 431
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 428
Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie 412
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype 388
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans 358
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 302
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 299
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 288
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 283
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 245
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 241
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 217
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 201
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 197
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 194
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38 186
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans 178
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 177
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 174
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) 167
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study 162
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia 159
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome. 153
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism 153
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models 143
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 142
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 140
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion 132
Spinocerebellar Ataxia Type 38. 113
Unraveling molecular pathogenesis of SCA38, a novel autosomal dominant ataxia with a possible treatment 110
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance 110
A rare craniosynostosis associated with an atypical 22q11 microdeletion 109
Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale 108
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
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes 103
Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice 102
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM 100
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia 99
A "Position Effect” Involved In The Pathogenesis Of Autosomal Dominant Leukodystrophy Linked To Chromosome 5q21-q23 In An Italian Family 97
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 97
Oligodontia segregating with a 7p21.2p21.1 ∼ Mb duplication in an Italian family with three affected siblings 97
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 95
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 94
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans 94
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 93
LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD) ASSOCIATA A DUPLICAZIONE DEL GENE LMNB1: IDENTIFICAZIONE DEI BREAKPOINT E STUDIO DELL’ESPRESSIONE IN OTTO FAMIGLIE 93
The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients 92
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 90
Cover Image, Volume 170A, Number 7, July 2016 90
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH 88
“A de novo X;8 translocation in a patient with psychomotor retardationand congenital cerebellar hypoplasia creates a PTK2-THOC2 fusion gene and knocks down THOC2 expression by transcriptional interference” 85
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 85
A new locus for pure Spinocerebellar Ataxia associated with Erythrokeratodermia maps to chromosome 6p12.3-q16.1 83
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET 83
A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline. 83
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 78
Autosomal dominant adult–onset leukodystrophy (ADLD) without LMNB1 mutations: a new variant? 76
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 74
Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients 72
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 71
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY 69
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) 68
Doppia traslocazione (7;13 e 11;15) con delezione di 3.4 Mb in 13q12.2 associata ad ipotonia e ritardo dello sviluppo psicomotorio 68
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review 68
A new locus for pure Spinocerebellar Ataxia associated with Erythrokeratodermia maps to chromosome 6p12.3-16.1 67
Delezione del gene ASTN2 (Astroactin-2), coinvolto nella migrazione neuronale, in due sorelle con ritardo psicomotorio 67
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy 63
Spinocerebellar ataxia type 15: clinical and molecular-genetics features of two Italian families 63
Labiopalatoschisi ed esadattilia bilaterale della mano associate ad una doppia delezione de novo sul cromosoma 4q32 e 4q34 che coinvolgono I geni PDGFC e FBXO8 63
AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE 62
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot 62
Analisi array-CGH e riarrangiamenti genomici a mosaico 60
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) 59
LAMIN B1 DYSREGULATION IN AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): GENETICS AND BIOLOGICAL MECHANISMS 55
“De-novo translocation involving PTK2 and THOC2 genes in a patient with cerebellar hypoplasia and mental retardation” 55
Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15 54
Array-CGH: sindromi note, varianti private e nuove sindromi 53
Spinocerebellar ataxia type 15: clinical and molecular-genetic features of two Italian families 52
Monosomia 10q26.3 e 18q22.3-q23 e trisomia 18q21.33q22.3 de novo in una paziente affetta da ritardo mentale e dismorfismi facciali 51
A novel gene for Spinocerebellar Ataxia (SCA) linked to chromosome 6 and fatty acid metabolism 50
A Novel SCA Locus Associated With Pure Cerebellar Ataxia In An Italian Family. 49
Mutations in the lamin B1 gene are not present in multiple sclerosis 47
Heterotopic bone formation not related to POH/FOP disease: a new entity? 46
A novel gene for Spinocerebellar Ataxia (SCA) linked to chromosome 6 and fatty acid metabolism 45
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion. 43
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 41
Second-Generation Sequencing to detect uncommon mutations in the ATM gene 41
Deficit di PAPP-A in gravidanza, fenotipo Cornelia De Lange e riarrangiamenyo genomico da traslocazione reciproca 34
DE-NOVO 8q24.3;Xq24 TRANSLOCATION ASSOCIATED WITH MENTAL RETARDATION AND CEREBELLAR HYPOPLASIA”. 33
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot 15
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 10
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data 3
Totale 14.529
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Categoria #
all - tutte 33.310
article - articoli 0
book - libri 0
conference - conferenze 11.907
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 45.217
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.011 0 125 109 270 143 367 203 144 192 229 123 106
2020/20211.612 132 116 113 128 142 101 146 81 148 151 130 224
2021/20222.075 109 91 134 320 113 132 94 121 106 112 456 287
2022/20232.521 216 229 80 252 220 523 215 181 269 103 116 117
2023/20241.481 143 194 121 76 105 184 110 111 29 90 125 193
2024/2025183 86 97 0 0 0 0 0 0 0 0 0 0
Totale 14.529