CINECA IRIS Institutional Research Information System

CAVALIERI, Simona
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 4.682
EU - Europa 3.498
AS - Asia 1.743
SA - Sud America 236
OC - Oceania 101
AF - Africa 36
Continente sconosciuto - Info sul continente non disponibili 3
Totale 10.299
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 4.479
IT - Italia 896
CN - Cina 745
DE - Germania 594
SG - Singapore 406
FR - Francia 327
SE - Svezia 267
GB - Regno Unito 224
IE - Irlanda 194
BR - Brasile 179
AT - Austria 177
ES - Italia 154
CA - Canada 142
FI - Finlandia 130
JP - Giappone 127
UA - Ucraina 105
IN - India 100
AU - Australia 83
KR - Corea 79
PL - Polonia 76
NL - Olanda 61
HK - Hong Kong 55
VN - Vietnam 52
BE - Belgio 51
MX - Messico 50
TR - Turchia 46
RU - Federazione Russa 33
AR - Argentina 32
ID - Indonesia 32
PT - Portogallo 31
GR - Grecia 26
RO - Romania 24
TW - Taiwan 24
CH - Svizzera 22
DK - Danimarca 20
IL - Israele 18
NZ - Nuova Zelanda 18
CZ - Repubblica Ceca 16
HU - Ungheria 14
NO - Norvegia 12
SI - Slovenia 10
BA - Bosnia-Erzegovina 9
IR - Iran 8
PK - Pakistan 8
SA - Arabia Saudita 8
SN - Senegal 8
ZA - Sudafrica 8
CL - Cile 7
PH - Filippine 7
RS - Serbia 7
CO - Colombia 6
CR - Costa Rica 6
PE - Perù 5
UZ - Uzbekistan 5
IQ - Iraq 4
MA - Marocco 4
TN - Tunisia 4
AE - Emirati Arabi Uniti 3
DZ - Algeria 3
EU - Europa 3
LT - Lituania 3
NG - Nigeria 3
TH - Thailandia 3
VE - Venezuela 3
BD - Bangladesh 2
BO - Bolivia 2
EC - Ecuador 2
EE - Estonia 2
HR - Croazia 2
JM - Giamaica 2
JO - Giordania 2
KE - Kenya 2
LU - Lussemburgo 2
LV - Lettonia 2
ME - Montenegro 2
PS - Palestinian Territory 2
SC - Seychelles 2
SK - Slovacchia (Repubblica Slovacca) 2
BG - Bulgaria 1
BS - Bahamas 1
CY - Cipro 1
EG - Egitto 1
GE - Georgia 1
HN - Honduras 1
IS - Islanda 1
KW - Kuwait 1
KZ - Kazakistan 1
MD - Moldavia 1
MY - Malesia 1
NP - Nepal 1
OM - Oman 1
PR - Porto Rico 1
SD - Sudan 1
Totale 10.299
Salva come PNG Salva come JPEG
Città #
Chandler 357
Houston 349
Fairfield 306
Beijing 271
Ashburn 231
Singapore 212
Dublin 185
Redwood City 184
Torino 178
Vienna 164
Wilmington 149
Woodbridge 146
Ann Arbor 139
Seattle 121
Santa Clara 118
Cambridge 100
Villeurbanne 91
Dearborn 86
Nyköping 76
Pisa 72
Munich 62
Medford 60
Warsaw 55
Shanghai 53
Jacksonville 51
Turin 51
Paris 50
Princeton 48
Columbus 46
Milan 46
Rome 40
Guangzhou 39
Dong Ket 37
Fremont 36
Genoa 35
São Paulo 32
Barcelona 30
Boardman 30
Los Angeles 30
New York 30
Tokyo 30
Helsinki 28
Jakarta 28
Nanjing 26
Ottawa 26
Toronto 25
Istanbul 23
Edinburgh 22
London 22
Madrid 22
Boston 20
Philadelphia 19
Washington 19
Brussels 18
Melbourne 18
Nürnberg 18
San Diego 18
Silver Spring 18
Changsha 16
Taipei 16
Buenos Aires 15
Hangzhou 15
New Haven 15
Nuremberg 15
Hong Kong 14
Kunming 14
Padova 14
Phoenix 14
Turku 14
Brisbane 13
Seoul 13
Wuhan 13
Chennai 12
Hefei 12
Pavia 12
Athens 11
Dallas 11
Florence 11
Hamburg 11
Rochester 11
Birmingham 10
Jinan 10
Lyndhurst 10
Zhengzhou 10
Berlin 9
Frankfurt am Main 9
Montreal 9
Oslo 9
Palermo 9
Rio De Janeiro 9
Strasbourg 9
Sydney 9
Vancouver 9
Baltimore 8
Bologna 8
Calgary 8
Chicago 8
Düsseldorf 8
Grand Rapids 8
Mexico 8
Totale 5.265
Salva come PNG Salva come JPEG
Nome #
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 785
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 665
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia 635
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 616
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 550
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 511
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 503
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 484
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 415
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 339
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 334
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 325
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide 283
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia 277
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 273
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein 266
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO) 229
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 223
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 222
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 202
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 168
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of Ataxia Telangiectasia 123
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 122
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 120
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 119
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 116
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions 115
Cover Image, Volume 170A, Number 7, July 2016 108
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH 105
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET 103
“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” 103
A deep intronic mutation in an Ataxia Telangiectasia patient Identified by genomic resequencing of the ATM region 99
AKR1C3 is a biomarker and druggable target for oropharyngeal tumors 98
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia 93
Human T lymphocytes transduced by lentiviral vectors in the absence of TCR activation maintain an intact immune competence 86
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 85
Molecular evidence of lentiviral vector-mediated gene transfer into human self-renewing, multi-potent, long-term NOD/SCID repopulating hematopoietic cells. 84
CHALLENGES IN MEDICAL GENETICS: EXOME SEQUENCING UNCOVERS RECESSIVE MUTATIONS IN TWO CASES WITH DE NOVO CNV. 80
Large Genomic Mutations within the ATM Gene Detected by MLPA, Including a Duplication of 41 kb from Exon 4 to 20 74
Robust and efficient regulation of transgene expression in vivo by improved tetracycline-dependent lentiviral vectors 74
Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress 71
A deep intronic mutation in an Ataxia Telangiectasia patient identified by genomic resequencing of the ATM region 67
“De-novo translocation involving PTK2 and THOC2 genes in a patient with cerebellar hypoplasia and mental retardation” 67
Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment. 59
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia 51
Second-Generation Sequencing to detect uncommon mutations in the ATM gene 47
Totale 10.574
Salva come PNG Salva come JPEG
Categoria #
all - tutte 23.536
article - articoli 0
book - libri 0
conference - conferenze 3.637
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 27.173
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202056 0 0 0 0 0 0 0 0 0 0 0 56
2020/2021991 62 79 81 92 97 71 101 55 100 73 71 109
2021/20221.029 61 38 53 183 50 70 47 58 45 65 215 144
2022/20231.223 98 108 35 110 109 244 87 68 143 62 71 88
2023/2024878 85 108 71 59 68 87 73 71 28 41 85 102
2024/20251.558 54 104 100 141 241 96 75 94 175 140 169 169
Totale 10.574