CINECA IRIS Institutional Research Information System

DI GREGORIO, ELEONORA
 Distribuzione geografica
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Continente #
NA - Nord America 2.725
EU - Europa 1.839
AS - Asia 790
OC - Oceania 61
SA - Sud America 61
AF - Africa 43
Continente sconosciuto - Info sul continente non disponibili 1
Totale 5.520
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Nazione #
US - Stati Uniti d'America 2.628
IT - Italia 684
CN - Cina 390
DE - Germania 317
GB - Regno Unito 143
FR - Francia 120
CZ - Repubblica Ceca 108
CA - Canada 85
RU - Federazione Russa 78
IN - India 73
JP - Giappone 72
VN - Vietnam 66
ES - Italia 60
KR - Corea 55
AU - Australia 46
PL - Polonia 45
NL - Olanda 36
IE - Irlanda 33
ZA - Sudafrica 30
BE - Belgio 29
BR - Brasile 26
FI - Finlandia 24
RO - Romania 24
AT - Austria 22
PT - Portogallo 21
CH - Svizzera 17
TW - Taiwan 17
AR - Argentina 16
HK - Hong Kong 15
NZ - Nuova Zelanda 15
UA - Ucraina 15
ID - Indonesia 14
CL - Cile 13
IL - Israele 13
LB - Libano 13
SE - Svezia 11
TR - Turchia 11
MX - Messico 10
IR - Iran 9
SG - Singapore 9
GR - Grecia 8
LT - Lituania 7
CO - Colombia 6
SA - Arabia Saudita 6
DK - Danimarca 5
NP - Nepal 5
BA - Bosnia-Erzegovina 4
HU - Ungheria 4
JO - Giordania 4
NO - Norvegia 4
PK - Pakistan 4
SI - Slovenia 4
TH - Thailandia 4
AE - Emirati Arabi Uniti 3
EG - Egitto 3
HR - Croazia 3
MA - Marocco 3
RS - Serbia 3
TN - Tunisia 3
AL - Albania 2
BY - Bielorussia 2
CY - Cipro 2
DZ - Algeria 2
PS - Palestinian Territory 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 5.520
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Città #
Fairfield 295
Houston 265
Ashburn 191
Woodbridge 190
Beijing 172
Torino 146
Ann Arbor 136
Seattle 125
Buffalo 120
Cambridge 108
Santa Cruz 108
Wilmington 91
Turin 72
San Diego 61
University Park 48
Dong Ket 45
Rome 28
Warsaw 28
Wuhan 27
Genoa 26
Paris 22
Hangzhou 21
Nürnberg 21
Toronto 21
Chicago 20
Muizenberg 19
Pisa 19
Shenyang 19
Bengaluru 18
Columbus 18
Mountain View 18
Boardman 17
Helsinki 17
Las Vegas 17
Milan 17
Shanghai 16
Vienna 16
Los Angeles 15
Chengdu 14
Clearwater 14
Guangzhou 14
Ottawa 14
Tokyo 14
Bologna 13
Dublin 13
London 13
New York 13
Beirut 12
Dallas 12
Phoenix 12
Seoul 12
Lake Forest 11
Nanjing 11
Antwerpen 10
Leawood 10
Napoli 10
Taipei 10
Buenos Aires 9
Manchester 9
Moscow 9
San Francisco 9
Amsterdam 8
Fleming Island 8
Hartford 8
Lyndhurst 8
Provo 8
Changsha 7
Dearborn 7
Milpitas 7
Austin 6
Boston 6
Boulder 6
Brighton 6
Brisbane 6
Florence 6
Herndon 6
Parsippany 6
Polska 6
Reggio Nell'emilia 6
Summerville 6
São Paulo 6
Vancouver 6
Xian 6
Bricherasio 5
Chandler 5
Council Bluffs 5
Gießen 5
Hyderabad 5
Istanbul 5
Madison 5
Modena 5
Owings Mills 5
Padova 5
Philadelphia 5
Pittsburgh 5
Radcliffe 5
Sankt Ingbert 5
Singapore 5
Strasbourg 5
Verona 5
Totale 3.111
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Nome #
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity, file e27ce429-a9c8-2581-e053-d805fe0acbaa 557
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations., file e27ce428-b474-2581-e053-d805fe0acbaa 471
Spinocerebellar Ataxia Type 38., file e27ce42e-7dee-2581-e053-d805fe0acbaa 426
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 336
Two families with novel missense mutations in COL4A1: When diagnosis can be missed., file e27ce427-8f63-2581-e053-d805fe0acbaa 333
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 312
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans, file e27ce428-ba09-2581-e053-d805fe0acbaa 278
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation., file e27ce427-102a-2581-e053-d805fe0acbaa 222
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy, file e27ce426-ad1d-2581-e053-d805fe0acbaa 184
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 180
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome., file e27ce426-d98d-2581-e053-d805fe0acbaa 175
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 175
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38), file e27ce428-ecdd-2581-e053-d805fe0acbaa 173
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH., file e27ce427-03be-2581-e053-d805fe0acbaa 166
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38, file e27ce42b-deae-2581-e053-d805fe0acbaa 164
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2, file e27ce428-4d69-2581-e053-d805fe0acbaa 156
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-1580-2581-e053-d805fe0acbaa 136
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy, file e27ce42e-1afb-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 91
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression, file e27ce426-fbc1-2581-e053-d805fe0acbaa 80
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 79
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 78
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file e27ce430-ae49-2581-e053-d805fe0acbaa 78
Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice, file e27ce42c-3d45-2581-e053-d805fe0acbaa 76
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file e27ce42e-30bf-2581-e053-d805fe0acbaa 74
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review, file e27ce430-b04b-2581-e053-d805fe0acbaa 71
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 50
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 28
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 18
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 16
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
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot, file acb56ad5-8571-47de-be14-0974df86a39b 6
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
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
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot, file e27ce431-c9fa-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
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 5.727
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Categoria #
all - tutte 7.957
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 7.957
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019241 0 0 0 0 0 0 0 0 0 0 139 102
2019/2020978 91 67 56 122 76 86 69 83 107 85 75 61
2020/20211.137 67 103 79 75 69 76 56 83 111 169 127 122
2021/20221.262 106 68 108 182 190 73 68 69 85 68 157 88
2022/2023887 43 56 148 119 63 82 110 72 53 60 51 30
2023/2024159 12 11 21 7 18 6 23 17 9 10 25 0
Totale 5.727