CINECA IRIS Institutional Research Information System

CAVALIERI, Simona
 Distribuzione geografica
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Continente #
NA - Nord America 5.877
EU - Europa 4.105
AS - Asia 2.898
SA - Sud America 363
Continente sconosciuto - Info sul continente non disponibili 338
OC - Oceania 121
AF - Africa 67
Totale 13.769
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Nazione #
US - Stati Uniti d'America 5.596
IT - Italia 1.159
CN - Cina 1.037
SG - Singapore 722
DE - Germania 650
FR - Francia 404
VN - Vietnam 307
GB - Regno Unito 278
SE - Svezia 275
BR - Brasile 265
IE - Irlanda 196
CA - Canada 189
AT - Austria 188
ES - Italia 175
JP - Giappone 162
FI - Finlandia 155
IN - India 153
HK - Hong Kong 112
UA - Ucraina 107
AU - Australia 101
KR - Corea 93
PL - Polonia 92
NL - Olanda 82
MX - Messico 63
BE - Belgio 57
TR - Turchia 52
BD - Bangladesh 47
AR - Argentina 46
ID - Indonesia 43
RU - Federazione Russa 39
GR - Grecia 36
PT - Portogallo 33
CH - Svizzera 27
RO - Romania 27
TW - Taiwan 26
DK - Danimarca 21
NZ - Nuova Zelanda 20
ZA - Sudafrica 20
IL - Israele 19
PK - Pakistan 17
CZ - Repubblica Ceca 16
HU - Ungheria 15
IQ - Iraq 15
KW - Kuwait 15
NO - Norvegia 15
CO - Colombia 13
EC - Ecuador 12
SA - Arabia Saudita 12
SI - Slovenia 12
BA - Bosnia-Erzegovina 11
CL - Cile 11
PH - Filippine 11
IR - Iran 10
JM - Giamaica 10
TN - Tunisia 10
CR - Costa Rica 9
SN - Senegal 9
RS - Serbia 8
LT - Lituania 7
PE - Perù 7
MA - Marocco 6
AE - Emirati Arabi Uniti 5
DZ - Algeria 5
UZ - Uzbekistan 5
JO - Giordania 4
NP - Nepal 4
OM - Oman 4
TH - Thailandia 4
VE - Venezuela 4
EE - Estonia 3
EU - Europa 3
KE - Kenya 3
LU - Lussemburgo 3
LV - Lettonia 3
MY - Malesia 3
NG - Nigeria 3
PS - Palestinian Territory 3
BO - Bolivia 2
BS - Bahamas 2
EG - Egitto 2
ET - Etiopia 2
GT - Guatemala 2
HR - Croazia 2
KZ - Kazakistan 2
LB - Libano 2
ME - Montenegro 2
MM - Myanmar 2
MT - Malta 2
PY - Paraguay 2
SC - Seychelles 2
SK - Slovacchia (Repubblica Slovacca) 2
SY - Repubblica araba siriana 2
AO - Angola 1
BG - Bulgaria 1
CY - Cipro 1
GA - Gabon 1
GE - Georgia 1
HN - Honduras 1
IS - Islanda 1
KG - Kirghizistan 1
Totale 13.422
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Città #
Ashburn 463
Singapore 396
Chandler 357
Houston 357
Beijing 345
Fairfield 306
San Jose 210
Dublin 186
Redwood City 184
Torino 178
Vienna 171
Wilmington 149
Woodbridge 146
Ann Arbor 139
Santa Clara 134
Seattle 123
Shanghai 107
Cambridge 104
Los Angeles 92
Villeurbanne 91
Dearborn 86
Milan 84
Munich 80
Ho Chi Minh City 76
Nyköping 76
Pisa 74
Turin 74
Dallas 72
Rome 71
Hanoi 67
Warsaw 67
Medford 60
Tokyo 58
Jacksonville 53
Paris 52
Hong Kong 51
Helsinki 48
Princeton 48
Columbus 46
Lauterbourg 45
New York 45
Guangzhou 43
São Paulo 43
Barcelona 40
Buffalo 39
Dong Ket 37
Fremont 37
Genoa 37
Boardman 35
The Dalles 35
London 31
Jakarta 30
Nanjing 30
Toronto 29
Boston 27
Edinburgh 26
Ottawa 26
Chicago 25
Istanbul 25
Philadelphia 25
Phoenix 24
Washington 24
Council Bluffs 23
Frankfurt am Main 23
Montreal 23
Naples 23
Chennai 22
Madrid 22
Melbourne 22
Seoul 22
Suzhou 22
Amsterdam 20
Brussels 20
Vancouver 20
Changsha 19
Hangzhou 19
San Diego 19
Buenos Aires 18
Nürnberg 18
Silver Spring 18
Turku 18
Bologna 17
Hefei 17
New Haven 17
Nuremberg 17
Taipei 17
Athens 16
Atlanta 16
Pittsburgh 16
Palermo 15
Brooklyn 14
Florence 14
Haiphong 14
Kunming 14
Kuwait City 14
Mumbai 14
Orem 14
Padova 14
Wuhan 14
Berlin 13
Totale 6.917
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Nome #
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 938
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 841
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 794
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia 766
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 667
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 646
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 570
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 567
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 509
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 421
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 412
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 392
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 351
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 337
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein 333
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia 325
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 308
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO) 292
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 282
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 281
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 213
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 197
AKR1C3 is a biomarker and druggable target for oropharyngeal tumors 188
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of Ataxia Telangiectasia 186
A deep intronic mutation in an Ataxia Telangiectasia patient Identified by genomic resequencing of the ATM region 178
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 175
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions 175
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 174
Cover Image, Volume 170A, Number 7, July 2016 164
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH 162
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 159
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia 159
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET 149
“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” 136
Human T lymphocytes transduced by lentiviral vectors in the absence of TCR activation maintain an intact immune competence 136
CHALLENGES IN MEDICAL GENETICS: EXOME SEQUENCING UNCOVERS RECESSIVE MUTATIONS IN TWO CASES WITH DE NOVO CNV. 135
A deep intronic mutation in an Ataxia Telangiectasia patient identified by genomic resequencing of the ATM region 120
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 120
Molecular evidence of lentiviral vector-mediated gene transfer into human self-renewing, multi-potent, long-term NOD/SCID repopulating hematopoietic cells. 117
Robust and efficient regulation of transgene expression in vivo by improved tetracycline-dependent lentiviral vectors 111
“De-novo translocation involving PTK2 and THOC2 genes in a patient with cerebellar hypoplasia and mental retardation” 109
Large Genomic Mutations within the ATM Gene Detected by MLPA, Including a Duplication of 41 kb from Exon 4 to 20 107
Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress 104
Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment. 95
Second-Generation Sequencing to detect uncommon mutations in the ATM gene 89
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia 79
Totale 13.769
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Categoria #
all - tutte 31.627
article - articoli 0
book - libri 0
conference - conferenze 5.225
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 36.852
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022968 0 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
2024/20251.587 54 104 100 141 241 96 75 94 175 140 169 198
2025/20263.012 304 125 166 317 361 159 508 122 246 223 137 344
2026/2027154 133 21 0 0 0 0 0 0 0 0 0 0
Totale 13.769