CINECA IRIS Institutional Research Information System

CAVALIERI, Simona
 Distribuzione geografica
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Continente #
NA - Nord America 4.265
EU - Europa 3.118
AS - Asia 1.145
SA - Sud America 125
OC - Oceania 88
AF - Africa 25
Continente sconosciuto - Info sul continente non disponibili 3
Totale 8.769
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Nazione #
US - Stati Uniti d'America 4.082
IT - Italia 810
CN - Cina 607
DE - Germania 492
FR - Francia 296
SE - Svezia 264
IE - Irlanda 191
GB - Regno Unito 189
AT - Austria 168
CA - Canada 131
ES - Italia 122
JP - Giappone 113
FI - Finlandia 111
UA - Ucraina 105
BR - Brasile 84
KR - Corea 77
SG - Singapore 77
AU - Australia 74
PL - Polonia 74
IN - India 69
VN - Vietnam 52
MX - Messico 43
BE - Belgio 42
NL - Olanda 40
TR - Turchia 38
HK - Hong Kong 30
RU - Federazione Russa 27
AR - Argentina 26
PT - Portogallo 25
RO - Romania 24
GR - Grecia 21
CH - Svizzera 20
DK - Danimarca 18
IL - Israele 17
TW - Taiwan 17
CZ - Repubblica Ceca 16
NZ - Nuova Zelanda 14
HU - Ungheria 12
NO - Norvegia 11
SI - Slovenia 10
BA - Bosnia-Erzegovina 9
ID - Indonesia 9
PK - Pakistan 8
SN - Senegal 8
IR - Iran 7
RS - Serbia 7
CO - Colombia 6
CR - Costa Rica 6
CL - Cile 5
PH - Filippine 4
TN - Tunisia 4
ZA - Sudafrica 4
AE - Emirati Arabi Uniti 3
DZ - Algeria 3
EU - Europa 3
NG - Nigeria 3
SA - Arabia Saudita 3
TH - Thailandia 3
HR - Croazia 2
LU - Lussemburgo 2
LV - Lettonia 2
ME - Montenegro 2
PE - Perù 2
PS - Palestinian Territory 2
SC - Seychelles 2
SK - Slovacchia (Repubblica Slovacca) 2
UZ - Uzbekistan 2
BD - Bangladesh 1
BG - Bulgaria 1
BS - Bahamas 1
CY - Cipro 1
EC - Ecuador 1
EE - Estonia 1
HN - Honduras 1
IQ - Iraq 1
IS - Islanda 1
JO - Giordania 1
KW - Kuwait 1
MD - Moldavia 1
MY - Malesia 1
NP - Nepal 1
PR - Porto Rico 1
SD - Sudan 1
VE - Venezuela 1
Totale 8.769
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Città #
Chandler 357
Houston 344
Fairfield 306
Beijing 254
Ashburn 216
Redwood City 184
Dublin 182
Torino 178
Vienna 161
Wilmington 149
Woodbridge 146
Ann Arbor 139
Seattle 118
Cambridge 99
Villeurbanne 91
Dearborn 86
Nyköping 76
Pisa 72
Medford 60
Warsaw 55
Jacksonville 51
Princeton 48
Shanghai 48
Paris 45
Milan 42
Dong Ket 37
Singapore 37
Fremont 36
Genoa 35
Turin 31
Rome 29
New York 27
Barcelona 26
Guangzhou 26
Boardman 25
Nanjing 25
Helsinki 24
Ottawa 24
Tokyo 24
Toronto 24
Boston 20
Los Angeles 20
Philadelphia 19
São Paulo 19
Washington 19
Nürnberg 18
San Diego 18
Istanbul 17
London 16
Melbourne 16
New Haven 15
Edinburgh 14
Hangzhou 14
Kunming 14
Brisbane 13
Brussels 13
Phoenix 13
Seoul 13
Taipei 13
Hefei 12
Pavia 12
Silver Spring 12
Changsha 11
Madrid 11
Munich 11
Padova 11
Rochester 11
Buenos Aires 10
Jinan 10
Lyndhurst 10
Berlin 9
Dallas 9
Florence 9
Hamburg 9
Montreal 9
Oslo 9
Rio De Janeiro 9
Strasbourg 9
Vancouver 9
Zhengzhou 9
Athens 8
Baltimore 8
Bologna 8
Mexico 8
Montréal 8
Newark 8
Palermo 8
Perth 8
Valencia 8
Wuhan 8
Angers 7
Calgary 7
Cardiff 7
Chennai 7
Columbus 7
Dresden 7
Federal 7
Indianapolis 7
Jakarta 7
Leawood 7
Totale 4.602
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Nome #
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 709
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 595
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia 573
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 502
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 471
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 456
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 429
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 428
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 387
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 299
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 285
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 277
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 249
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein 246
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia 241
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 240
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO) 205
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 197
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 193
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 157
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 140
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of Ataxia Telangiectasia 98
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 97
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 91
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH 88
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 87
Cover Image, Volume 170A, Number 7, July 2016 87
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions 85
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 85
“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” 83
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET 81
A deep intronic mutation in an Ataxia Telangiectasia patient Identified by genomic resequencing of the ATM region 76
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 70
Molecular evidence of lentiviral vector-mediated gene transfer into human self-renewing, multi-potent, long-term NOD/SCID repopulating hematopoietic cells. 69
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia 67
Human T lymphocytes transduced by lentiviral vectors in the absence of TCR activation maintain an intact immune competence 64
AKR1C3 is a biomarker and druggable target for oropharyngeal tumors 64
Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress 63
Large Genomic Mutations within the ATM Gene Detected by MLPA, Including a Duplication of 41 kb from Exon 4 to 20 59
CHALLENGES IN MEDICAL GENETICS: EXOME SEQUENCING UNCOVERS RECESSIVE MUTATIONS IN TWO CASES WITH DE NOVO CNV. 59
Robust and efficient regulation of transgene expression in vivo by improved tetracycline-dependent lentiviral vectors 54
A deep intronic mutation in an Ataxia Telangiectasia patient identified by genomic resequencing of the ATM region 53
“De-novo translocation involving PTK2 and THOC2 genes in a patient with cerebellar hypoplasia and mental retardation” 53
Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment. 50
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia 41
Second-Generation Sequencing to detect uncommon mutations in the ATM gene 40
Totale 9.043
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Categoria #
all - tutte 17.935
article - articoli 0
book - libri 0
conference - conferenze 2.623
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 20.558
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.531 127 75 79 157 105 303 144 111 134 154 86 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
2024/202527 27 0 0 0 0 0 0 0 0 0 0 0
Totale 9.043