CINECA IRIS Institutional Research Information System

DI GREGORIO, ELEONORA
 Distribuzione geografica
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Continente #
NA - Nord America 6.021
EU - Europa 4.947
AS - Asia 1.302
SA - Sud America 124
OC - Oceania 67
AF - Africa 33
Continente sconosciuto - Info sul continente non disponibili 2
Totale 12.496
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Nazione #
US - Stati Uniti d'America 5.819
IT - Italia 1.658
CN - Cina 709
DE - Germania 588
SE - Svezia 443
IE - Irlanda 425
FR - Francia 375
UA - Ucraina 231
FI - Finlandia 196
GB - Regno Unito 193
AT - Austria 189
CA - Canada 150
ES - Italia 149
KR - Corea 133
PL - Polonia 124
JP - Giappone 109
VN - Vietnam 109
BE - Belgio 90
IN - India 75
BR - Brasile 71
AU - Australia 56
NL - Olanda 45
MX - Messico 41
DK - Danimarca 38
TR - Turchia 35
RO - Romania 30
HK - Hong Kong 29
CH - Svizzera 26
AR - Argentina 23
PT - Portogallo 23
RU - Federazione Russa 23
TW - Taiwan 22
IL - Israele 21
CZ - Repubblica Ceca 18
GR - Grecia 18
CO - Colombia 15
SN - Senegal 15
NZ - Nuova Zelanda 11
SG - Singapore 11
HU - Ungheria 10
IR - Iran 10
BA - Bosnia-Erzegovina 9
NO - Norvegia 9
CR - Costa Rica 8
RS - Serbia 8
SI - Slovenia 7
CL - Cile 6
ID - Indonesia 6
PK - Pakistan 5
SK - Slovacchia (Repubblica Slovacca) 5
TN - Tunisia 5
ZA - Sudafrica 5
AE - Emirati Arabi Uniti 4
HR - Croazia 4
PE - Perù 4
SA - Arabia Saudita 4
TH - Thailandia 4
BO - Bolivia 3
LU - Lussemburgo 3
MT - Malta 3
MY - Malesia 3
NG - Nigeria 3
UZ - Uzbekistan 3
BG - Bulgaria 2
EU - Europa 2
ME - Montenegro 2
PH - Filippine 2
PS - Palestinian Territory 2
BD - Bangladesh 1
BS - Bahamas 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
MK - Macedonia 1
MU - Mauritius 1
NP - Nepal 1
PR - Porto Rico 1
SD - Sudan 1
UY - Uruguay 1
Totale 12.496
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Città #
Chandler 750
Dublin 400
Fairfield 395
Houston 386
Beijing 366
Ann Arbor 309
Torino 305
Woodbridge 214
Wilmington 199
Redwood City 196
Vienna 180
Villeurbanne 179
Ashburn 170
Cambridge 149
Nyköping 149
Seattle 145
Dearborn 134
Warsaw 103
Jacksonville 100
Medford 95
Princeton 95
Pisa 90
Dong Ket 69
Brussels 65
Milan 63
Fremont 59
Rome 51
Boston 48
Ottawa 43
Washington 43
Paris 42
Turin 41
Genoa 39
Shanghai 39
Nanjing 37
Toronto 36
Guangzhou 29
Padova 29
Boardman 28
San Diego 23
Tokyo 23
Philadelphia 22
Florence 21
London 21
Roda De Bará 21
Seoul 21
Hangzhou 20
Nürnberg 19
Barcelona 17
Hefei 17
Helsinki 17
Taipei 17
New York 16
New Haven 15
Norwalk 15
São Paulo 15
Verona 15
Bologna 14
Dallas 14
Istanbul 14
Kunming 14
Edinburgh 13
Phoenix 13
Silver Spring 13
Lyndhurst 12
Wuhan 12
Madrid 11
Mountain View 11
Zhengzhou 11
Brescia 10
Catania 10
Dresden 10
Falls Church 10
Isernia 10
Menlo Park 10
Munich 10
Napoli 10
Stanford 10
Strasbourg 10
Des Moines 9
Jinan 9
Los Angeles 9
Pavia 9
Atlanta 8
Calgary 8
Chicago 8
Ferrara 8
Mexico 8
Naples 8
Oklahoma City 8
Rio De Janeiro 8
Shenyang 8
Stuttgart 8
Angers 7
Brisbane 7
Buenos Aires 7
Buffalo 7
Central District 7
Changsha 7
Federal 7
Totale 6.622
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Nome #
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 662
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 571
Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita 564
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 463
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 445
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 406
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 398
Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie 387
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 366
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 352
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 284
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 280
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 250
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 234
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 233
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 203
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 196
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 192
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 191
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 190
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38 184
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 169
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans 169
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) 164
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 161
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome. 146
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 146
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism 145
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 137
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 134
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion 119
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models 108
A rare craniosynostosis associated with an atypical 22q11 microdeletion 105
Unraveling molecular pathogenesis of SCA38, a novel autosomal dominant ataxia with a possible treatment 104
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance 104
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia 102
Spinocerebellar Ataxia Type 38. 101
Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale 100
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 100
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 96
Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice 96
LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD) ASSOCIATA A DUPLICAZIONE DEL GENE LMNB1: IDENTIFICAZIONE DEI BREAKPOINT E STUDIO DELL’ESPRESSIONE IN OTTO FAMIGLIE 94
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM 92
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 91
Oligodontia segregating with a 7p21.2p21.1 ∼ Mb duplication in an Italian family with three affected siblings 91
A "Position Effect” Involved In The Pathogenesis Of Autosomal Dominant Leukodystrophy Linked To Chromosome 5q21-q23 In An Italian Family 90
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 88
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 87
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH 86
The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients 85
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 85
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans 85
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 83
A new locus for pure Spinocerebellar Ataxia associated with Erythrokeratodermia maps to chromosome 6p12.3-q16.1 82
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET 80
Cover Image, Volume 170A, Number 7, July 2016 80
A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline. 80
“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” 78
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 75
Autosomal dominant adult–onset leukodystrophy (ADLD) without LMNB1 mutations: a new variant? 73
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 71
A new locus for pure Spinocerebellar Ataxia associated with Erythrokeratodermia maps to chromosome 6p12.3-16.1 65
Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients 65
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 65
Doppia traslocazione (7;13 e 11;15) con delezione di 3.4 Mb in 13q12.2 associata ad ipotonia e ritardo dello sviluppo psicomotorio 64
Delezione del gene ASTN2 (Astroactin-2), coinvolto nella migrazione neuronale, in due sorelle con ritardo psicomotorio 64
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY 63
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) 63
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 62
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review 60
Analisi array-CGH e riarrangiamenti genomici a mosaico 59
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 59
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy 58
AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE 58
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) 56
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot 55
Spinocerebellar ataxia type 15: clinical and molecular-genetics features of two Italian families 54
“De-novo translocation involving PTK2 and THOC2 genes in a patient with cerebellar hypoplasia and mental retardation” 51
Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15 50
Monosomia 10q26.3 e 18q22.3-q23 e trisomia 18q21.33q22.3 de novo in una paziente affetta da ritardo mentale e dismorfismi facciali 50
Spinocerebellar ataxia type 15: clinical and molecular-genetic features of two Italian families 50
LAMIN B1 DYSREGULATION IN AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): GENETICS AND BIOLOGICAL MECHANISMS 49
Array-CGH: sindromi note, varianti private e nuove sindromi 48
A novel gene for Spinocerebellar Ataxia (SCA) linked to chromosome 6 and fatty acid metabolism 47
A Novel SCA Locus Associated With Pure Cerebellar Ataxia In An Italian Family. 46
Mutations in the lamin B1 gene are not present in multiple sclerosis 43
Heterotopic bone formation not related to POH/FOP disease: a new entity? 43
A novel gene for Spinocerebellar Ataxia (SCA) linked to chromosome 6 and fatty acid metabolism 42
Second-Generation Sequencing to detect uncommon mutations in the ATM gene 39
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion. 39
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 34
DE-NOVO 8q24.3;Xq24 TRANSLOCATION ASSOCIATED WITH MENTAL RETARDATION AND CEREBELLAR HYPOPLASIA”. 32
Deficit di PAPP-A in gravidanza, fenotipo Cornelia De Lange e riarrangiamenyo genomico da traslocazione reciproca 31
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot 6
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data 2
Totale 12.905
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Categoria #
all - tutte 22.950
article - articoli 0
book - libri 0
conference - conferenze 8.430
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 31.380
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20191.449 0 0 79 116 101 68 129 210 114 177 278 177
2019/20202.052 141 118 102 246 135 357 198 137 177 221 118 102
2020/20211.544 125 113 109 122 136 91 144 76 143 141 125 219
2021/20221.971 96 80 126 305 104 125 87 112 101 106 447 282
2022/20232.515 213 226 80 248 214 511 231 180 273 104 114 121
2023/2024446 150 192 104 0 0 0 0 0 0 0 0 0
Totale 12.905