CINECA IRIS Institutional Research Information System

DI GREGORIO, ELEONORA
 Distribuzione geografica
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Continente #
NA - Nord America 2.602
EU - Europa 1.689
AS - Asia 763
SA - Sud America 57
OC - Oceania 51
AF - Africa 42
Continente sconosciuto - Info sul continente non disponibili 1
Totale 5.205
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Nazione #
US - Stati Uniti d'America 2.509
IT - Italia 662
CN - Cina 375
DE - Germania 275
GB - Regno Unito 134
CZ - Repubblica Ceca 102
FR - Francia 86
CA - Canada 81
JP - Giappone 71
RU - Federazione Russa 70
IN - India 69
VN - Vietnam 66
ES - Italia 57
KR - Corea 52
PL - Polonia 45
AU - Australia 37
IE - Irlanda 33
NL - Olanda 30
BE - Belgio 29
ZA - Sudafrica 29
BR - Brasile 25
RO - Romania 23
AT - Austria 22
PT - Portogallo 21
TW - Taiwan 17
AR - Argentina 16
CH - Svizzera 16
FI - Finlandia 15
HK - Hong Kong 15
NZ - Nuova Zelanda 14
ID - Indonesia 13
IL - Israele 13
LB - Libano 13
SE - Svezia 11
TR - Turchia 11
CL - Cile 10
MX - Messico 10
UA - Ucraina 10
IR - Iran 9
GR - Grecia 8
SG - Singapore 7
CO - Colombia 6
SA - Arabia Saudita 6
DK - Danimarca 5
LT - Lituania 5
NP - Nepal 5
BA - Bosnia-Erzegovina 4
HU - Ungheria 4
JO - Giordania 4
NO - Norvegia 4
PK - Pakistan 4
TH - Thailandia 4
EG - Egitto 3
HR - Croazia 3
MA - Marocco 3
RS - Serbia 3
TN - Tunisia 3
AE - Emirati Arabi Uniti 2
AL - Albania 2
BY - Bielorussia 2
CY - Cipro 2
DZ - Algeria 2
PS - Palestinian Territory 2
SI - Slovenia 2
SK - Slovacchia (Repubblica Slovacca) 2
BD - Bangladesh 1
BG - Bulgaria 1
BS - Bahamas 1
ET - Etiopia 1
EU - Europa 1
LU - Lussemburgo 1
LV - Lettonia 1
ME - Montenegro 1
NG - Nigeria 1
PH - Filippine 1
PR - Porto Rico 1
UZ - Uzbekistan 1
Totale 5.205
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Città #
Fairfield 278
Houston 245
Woodbridge 185
Ashburn 180
Beijing 165
Torino 144
Ann Arbor 123
Seattle 120
Buffalo 115
Santa Cruz 102
Cambridge 101
Wilmington 84
Turin 65
San Diego 61
Dong Ket 45
University Park 43
Rome 28
Warsaw 28
Genoa 26
Wuhan 25
Fleming Island 24
Paris 21
Hangzhou 20
Toronto 20
Chicago 19
Pisa 19
Shenyang 19
Muizenberg 18
Boardman 17
Milan 17
Bengaluru 16
Mountain View 16
Vienna 16
Las Vegas 15
Nürnberg 15
Clearwater 14
Guangzhou 14
Shanghai 14
Tokyo 14
Bologna 13
Brooklyn 13
Chengdu 13
Dublin 13
New York 13
Ottawa 13
Beirut 12
London 12
Los Angeles 12
Seoul 12
Dallas 11
Nanjing 11
Phoenix 11
Taipei 11
Antwerpen 10
Lake Forest 10
Napoli 10
Buenos Aires 9
Helsinki 9
Manchester 9
Hartford 8
Lyndhurst 8
Provo 8
Changsha 7
Dearborn 7
Milpitas 7
San Francisco 7
Austin 6
Boston 6
Brighton 6
Brisbane 6
Herndon 6
Leawood 6
Polska 6
Reggio Nell'emilia 6
Summerville 6
São Paulo 6
Vancouver 6
Xian 6
Amsterdam 5
Boulder 5
Bricherasio 5
Chandler 5
Council Bluffs 5
Florence 5
Gießen 5
Hyderabad 5
Istanbul 5
Modena 5
Owings Mills 5
Parsippany 5
Philadelphia 5
Pittsburgh 5
Radcliffe 5
Sankt Ingbert 5
Strasbourg 5
Verona 5
Vigo 5
Athens 4
Bad Vilbel 4
Barcelona 4
Totale 2.949
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Nome #
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity, file e27ce429-a9c8-2581-e053-d805fe0acbaa 558
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations., file e27ce428-b474-2581-e053-d805fe0acbaa 474
Spinocerebellar Ataxia Type 38., file e27ce42e-7dee-2581-e053-d805fe0acbaa 413
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications, file e27ce428-b9cb-2581-e053-d805fe0acbaa 339
Two families with novel missense mutations in COL4A1: When diagnosis can be missed., file e27ce427-8f63-2581-e053-d805fe0acbaa 332
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT), file e27ce42b-ea0f-2581-e053-d805fe0acbaa 315
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation., file e27ce427-102a-2581-e053-d805fe0acbaa 214
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy, file e27ce426-ad1d-2581-e053-d805fe0acbaa 187
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, file e27ce42b-f0f5-2581-e053-d805fe0acbaa 179
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38), file e27ce428-ecdd-2581-e053-d805fe0acbaa 171
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), file e27ce428-b4d6-2581-e053-d805fe0acbaa 169
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome., file e27ce426-d98d-2581-e053-d805fe0acbaa 164
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38, file e27ce42b-deae-2581-e053-d805fe0acbaa 164
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH., file e27ce427-03be-2581-e053-d805fe0acbaa 162
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2, file e27ce428-4d69-2581-e053-d805fe0acbaa 155
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy, file e27ce42e-1afb-2581-e053-d805fe0acbaa 139
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-1580-2581-e053-d805fe0acbaa 136
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation, file e27ce42f-0c09-2581-e053-d805fe0acbaa 105
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q, file e27ce42b-129b-2581-e053-d805fe0acbaa 95
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, file e27ce426-e5be-2581-e053-d805fe0acbaa 92
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples, file e27ce429-adb7-2581-e053-d805fe0acbaa 79
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, file e27ce426-e10a-2581-e053-d805fe0acbaa 78
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file e27ce430-ae49-2581-e053-d805fe0acbaa 77
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file e27ce42e-30bf-2581-e053-d805fe0acbaa 74
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression, file e27ce426-fbc1-2581-e053-d805fe0acbaa 71
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review, file e27ce430-b04b-2581-e053-d805fe0acbaa 71
Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice, file e27ce42c-3d45-2581-e053-d805fe0acbaa 70
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study, file e27ce42e-a46f-2581-e053-d805fe0acbaa 66
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file e27ce430-a9d2-2581-e053-d805fe0acbaa 46
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38, file e27ce427-1178-2581-e053-d805fe0acbaa 39
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study, file e27ce433-a750-2581-e053-d805fe0acbaa 27
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, file e27ce426-e5bf-2581-e053-d805fe0acbaa 19
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans, file e27ce431-c67b-2581-e053-d805fe0acbaa 17
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file e27ce430-a9d3-2581-e053-d805fe0acbaa 15
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT), file e27ce42b-ea10-2581-e053-d805fe0acbaa 9
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation, file e27ce42d-f81a-2581-e053-d805fe0acbaa 7
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review, file e27ce430-b04c-2581-e053-d805fe0acbaa 7
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-157f-2581-e053-d805fe0acbaa 6
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism, file e27ce42b-f9be-2581-e053-d805fe0acbaa 6
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy, file e27ce42d-be0f-2581-e053-d805fe0acbaa 6
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file e27ce42d-8750-2581-e053-d805fe0acbaa 5
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot, file e27ce431-c9fa-2581-e053-d805fe0acbaa 5
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38, file e27ce426-f4f0-2581-e053-d805fe0acbaa 4
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy, file e27ce42d-be10-2581-e053-d805fe0acbaa 4
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans, file e27ce431-bf36-2581-e053-d805fe0acbaa 4
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis, file e27ce42d-0212-2581-e053-d805fe0acbaa 3
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot, file acb56ad5-8571-47de-be14-0974df86a39b 2
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion., file e27ce426-dfbd-2581-e053-d805fe0acbaa 2
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity, file e27ce429-ab06-2581-e053-d805fe0acbaa 2
Two families with novel missense mutations in COL4A1: When diagnosis can be missed., file e27ce42b-f3a8-2581-e053-d805fe0acbaa 2
Cover Image, Volume 170A, Number 7, July 2016, file e27ce42c-2690-2581-e053-d805fe0acbaa 2
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file e27ce42d-874f-2581-e053-d805fe0acbaa 2
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study, file e27ce42e-a470-2581-e053-d805fe0acbaa 2
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations., file e27ce42b-f3a4-2581-e053-d805fe0acbaa 1
The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients, file e27ce42b-f8ee-2581-e053-d805fe0acbaa 1
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans, file e27ce431-e18f-2581-e053-d805fe0acbaa 1
Totale 5.395
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Categoria #
all - tutte 6.871
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 6.871
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019551 0 0 23 30 40 20 24 50 50 81 134 99
2019/2020911 89 63 49 111 66 81 67 78 100 81 69 57
2020/20211.094 63 96 77 70 68 73 55 82 107 166 118 119
2021/20221.200 100 68 104 166 181 72 64 65 85 65 148 82
2022/2023903 42 51 142 111 60 80 123 86 66 60 50 32
2023/202455 16 16 23 0 0 0 0 0 0 0 0 0
Totale 5.395