CINECA IRIS Institutional Research Information System

DI GREGORIO, ELEONORA
 Distribuzione geografica
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Continente #
NA - Nord America 6.550
EU - Europa 5.221
AS - Asia 1.557
SA - Sud America 128
OC - Oceania 87
AF - Africa 34
Continente sconosciuto - Info sul continente non disponibili 2
Totale 13.579
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Nazione #
US - Stati Uniti d'America 6.332
IT - Italia 1.772
CN - Cina 803
DE - Germania 622
SE - Svezia 449
IE - Irlanda 412
FR - Francia 405
GB - Regno Unito 235
UA - Ucraina 234
FI - Finlandia 212
AT - Austria 191
ES - Italia 165
CA - Canada 164
KR - Corea 159
JP - Giappone 130
PL - Polonia 130
VN - Vietnam 109
IN - India 82
BR - Brasile 73
AU - Australia 71
BE - Belgio 57
TW - Taiwan 54
DK - Danimarca 52
NL - Olanda 48
HK - Hong Kong 45
MX - Messico 43
SG - Singapore 43
TR - Turchia 43
RO - Romania 36
RU - Federazione Russa 31
CH - Svizzera 29
IL - Israele 26
PT - Portogallo 25
AR - Argentina 23
CZ - Repubblica Ceca 21
GR - Grecia 21
SN - Senegal 17
CO - Colombia 16
NZ - Nuova Zelanda 16
NO - Norvegia 12
IR - Iran 11
HU - Ungheria 10
BA - Bosnia-Erzegovina 9
ID - Indonesia 9
PK - Pakistan 9
SI - Slovenia 9
CR - Costa Rica 8
RS - Serbia 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
LK - Sri Lanka 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 13.579
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Città #
Chandler 762
Fairfield 419
Houston 402
Beijing 392
Dublin 387
Ann Arbor 353
Ashburn 318
Torino 314
Woodbridge 228
Redwood City 206
Wilmington 205
Vienna 182
Villeurbanne 181
Cambridge 167
Seattle 166
Nyköping 151
Dearborn 138
Warsaw 107
Jacksonville 100
Medford 98
Princeton 97
Pisa 95
Dong Ket 69
Milan 66
Fremont 60
Rome 60
Turin 52
Boston 48
Shanghai 48
Ottawa 46
Washington 45
Paris 44
Genoa 39
Toronto 39
Nanjing 37
Guangzhou 31
New York 30
Tainan City 30
Brussels 29
Padova 29
Boardman 28
Helsinki 27
San Diego 27
Florence 25
London 24
Tokyo 24
Barcelona 23
Hangzhou 23
Los Angeles 22
Roda De Bará 21
Seoul 21
Philadelphia 20
Nürnberg 19
Hefei 17
Istanbul 17
Taipei 17
Bologna 16
Edinburgh 16
Kunming 15
Lyndhurst 15
Naples 15
New Haven 15
Norwalk 15
São Paulo 15
Verona 15
Dallas 14
Phoenix 14
Wuhan 14
Catania 13
Silver Spring 13
Zhengzhou 13
Changsha 12
Madrid 12
Mountain View 12
Chengdu 11
Dresden 11
Perth 11
Brescia 10
Falls Church 10
Isernia 10
Menlo Park 10
Munich 10
Napoli 10
Shenyang 10
Stanford 10
Strasbourg 10
Baltimore 9
Des Moines 9
Hamburg 9
Jinan 9
Melbourne 9
Pavia 9
Atlanta 8
Bari 8
Brisbane 8
Calgary 8
Central District 8
Chicago 8
Ferrara 8
Mexico 8
Totale 7.120
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Nome #
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 699
Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita 596
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 583
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 495
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 459
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 423
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 422
Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie 409
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 409
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 377
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans 347
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 297
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 296
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 267
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 265
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 239
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 236
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 209
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 194
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 194
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 189
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38 183
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 172
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans 171
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 166
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) 164
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study 156
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 154
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome. 151
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism 149
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models 139
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 139
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 138
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion 125
Unraveling molecular pathogenesis of SCA38, a novel autosomal dominant ataxia with a possible treatment 109
Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale 107
Spinocerebellar Ataxia Type 38. 106
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance 106
A rare craniosynostosis associated with an atypical 22q11 microdeletion 105
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
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia 99
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 98
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM 98
Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice 97
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 94
A "Position Effect” Involved In The Pathogenesis Of Autosomal Dominant Leukodystrophy Linked To Chromosome 5q21-q23 In An Italian Family 93
Oligodontia segregating with a 7p21.2p21.1 ∼ Mb duplication in an Italian family with three affected siblings 93
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 92
LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD) ASSOCIATA A DUPLICAZIONE DEL GENE LMNB1: IDENTIFICAZIONE DEI BREAKPOINT E STUDIO DELL’ESPRESSIONE IN OTTO FAMIGLIE 92
The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients 91
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS 91
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 89
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans 89
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH 87
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 86
Cover Image, Volume 170A, Number 7, July 2016 84
A new locus for pure Spinocerebellar Ataxia associated with Erythrokeratodermia maps to chromosome 6p12.3-q16.1 82
“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” 82
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET 80
A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline. 80
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 80
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 78
Autosomal dominant adult–onset leukodystrophy (ADLD) without LMNB1 mutations: a new variant? 75
Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients 70
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 69
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 68
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY 67
A new locus for pure Spinocerebellar Ataxia associated with Erythrokeratodermia maps to chromosome 6p12.3-16.1 66
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) 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 63
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy 61
AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE 61
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 60
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review 60
Analisi array-CGH e riarrangiamenti genomici a mosaico 59
Spinocerebellar ataxia type 15: clinical and molecular-genetics features of two Italian families 58
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot 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) 57
Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15 53
LAMIN B1 DYSREGULATION IN AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): GENETICS AND BIOLOGICAL MECHANISMS 52
“De-novo translocation involving PTK2 and THOC2 genes in a patient with cerebellar hypoplasia and mental retardation” 51
Spinocerebellar ataxia type 15: clinical and molecular-genetic features of two Italian families 51
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
Array-CGH: sindromi note, varianti private e nuove sindromi 47
A novel gene for Spinocerebellar Ataxia (SCA) linked to chromosome 6 and fatty acid metabolism 47
Mutations in the lamin B1 gene are not present in multiple sclerosis 46
A Novel SCA Locus Associated With Pure Cerebellar Ataxia In An Italian Family. 46
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
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion. 41
Second-Generation Sequencing to detect uncommon mutations in the ATM gene 39
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 36
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 10
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data 2
Totale 14.000
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Categoria #
all - tutte 29.878
article - articoli 0
book - libri 0
conference - conferenze 10.601
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 40.479
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019648 0 0 0 0 0 0 0 0 0 183 284 181
2019/20202.161 150 125 109 270 143 367 203 144 192 229 123 106
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
2023/20241.135 143 194 121 76 105 184 110 111 29 62 0 0
Totale 14.000