CINECA IRIS Institutional Research Information System

CAVALIERI, Simona
 Distribuzione geografica
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Continente #
NA - Nord America 1.911
EU - Europa 1.534
AS - Asia 596
SA - Sud America 60
OC - Oceania 53
AF - Africa 33
Continente sconosciuto - Info sul continente non disponibili 1
Totale 4.188
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Nazione #
US - Stati Uniti d'America 1.817
IT - Italia 581
CN - Cina 276
DE - Germania 208
GB - Regno Unito 129
FR - Francia 95
CZ - Repubblica Ceca 86
ES - Italia 86
CA - Canada 78
IN - India 64
RU - Federazione Russa 61
JP - Giappone 58
AU - Australia 39
VN - Vietnam 39
KR - Corea 36
NL - Olanda 31
BR - Brasile 30
PL - Polonia 30
PT - Portogallo 30
BE - Belgio 29
IE - Irlanda 25
RO - Romania 24
AT - Austria 22
ZA - Sudafrica 21
AR - Argentina 16
CH - Svizzera 16
HK - Hong Kong 14
MX - Messico 14
NZ - Nuova Zelanda 14
TR - Turchia 14
LB - Libano 13
SE - Svezia 12
UA - Ucraina 12
FI - Finlandia 11
ID - Indonesia 11
IR - Iran 9
SA - Arabia Saudita 9
GR - Grecia 8
IL - Israele 8
SG - Singapore 8
TW - Taiwan 8
CL - Cile 7
CO - Colombia 6
BA - Bosnia-Erzegovina 5
LT - Lituania 5
NP - Nepal 5
PK - Pakistan 5
DK - Danimarca 4
HU - Ungheria 4
PH - Filippine 4
HR - Croazia 3
MA - Marocco 3
NO - Norvegia 3
SI - Slovenia 3
TH - Thailandia 3
TN - Tunisia 3
AE - Emirati Arabi Uniti 2
AL - Albania 2
BH - Bahrain 2
BY - Bielorussia 2
CY - Cipro 2
DZ - Algeria 2
EG - Egitto 2
JO - Giordania 2
PS - Palestinian Territory 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
BD - Bangladesh 1
BS - Bahamas 1
ET - Etiopia 1
EU - Europa 1
LU - Lussemburgo 1
LV - Lettonia 1
ME - Montenegro 1
MY - Malesia 1
NG - Nigeria 1
PR - Porto Rico 1
VE - Venezuela 1
Totale 4.188
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Città #
Fairfield 183
Houston 179
Woodbridge 128
Ashburn 126
Buffalo 93
Torino 90
Ann Arbor 79
Seattle 78
Beijing 74
Santa Cruz 74
Wilmington 63
Cambridge 59
Turin 59
Genoa 34
University Park 30
Dong Ket 29
Rome 29
Wuhan 27
Zaragoza 25
Shenyang 20
Las Vegas 19
Vienna 19
Paris 18
Guangzhou 17
Nürnberg 17
Toronto 17
Hangzhou 15
Tokyo 15
Bengaluru 14
Los Angeles 14
Milan 14
San Diego 14
Bologna 13
Chicago 13
Dallas 13
Rochester 13
Warsaw 13
Beirut 12
Chengdu 12
Muizenberg 12
New York 12
Shanghai 12
Antwerpen 10
London 10
Mountain View 10
Phoenix 10
Boardman 9
Buenos Aires 9
Clearwater 9
Ottawa 9
Lake Forest 8
Lyndhurst 8
Austin 7
Birmingham 7
Brisbane 7
Changsha 7
Dublin 7
Hartford 7
Leawood 7
Montréal 7
Nanjing 7
Napoli 7
Nijmegen 7
Pisa 7
Vancouver 7
Barcelona 6
Boston 6
Brighton 6
Dearborn 6
Helsinki 6
Milpitas 6
Norwalk 6
Philadelphia 6
Summerville 6
Amsterdam 5
Bad Vilbel 5
Boulder 5
Chandler 5
Columbus 5
Florence 5
Gießen 5
Hyderabad 5
Modena 5
Owings Mills 5
Padova 5
Polska 5
Radcliffe 5
Saint Louis 5
Strasbourg 5
Amadora 4
Ankara 4
Athens 4
Bogotá 4
Brescia 4
Brussels 4
Cardiff 4
Council Bluffs 4
Córdoba 4
El Barco De Ávila 4
Falls Church 4
Totale 2.153
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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
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
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia, file e27ce427-895f-2581-e053-d805fe0acbaa 314
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
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia, file e27ce42b-61fd-2581-e053-d805fe0acbaa 245
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
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH., file e27ce427-03be-2581-e053-d805fe0acbaa 166
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2, file e27ce428-4d69-2581-e053-d805fe0acbaa 155
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO), file e27ce426-e5c2-2581-e053-d805fe0acbaa 153
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
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein, file e27ce428-ba0c-2581-e053-d805fe0acbaa 133
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
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 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
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, file e27ce426-e5bc-2581-e053-d805fe0acbaa 70
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file e27ce430-a9d2-2581-e053-d805fe0acbaa 49
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
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
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-157f-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
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO), file e27ce426-e5c3-2581-e053-d805fe0acbaa 5
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file e27ce42d-8750-2581-e053-d805fe0acbaa 5
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy, file e27ce42d-be10-2581-e053-d805fe0acbaa 4
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia, file e27ce42b-21bb-2581-e053-d805fe0acbaa 3
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia, file e27ce42c-1fd9-2581-e053-d805fe0acbaa 3
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
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
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations., file e27ce42b-f3a4-2581-e053-d805fe0acbaa 1
Large Genomic Mutations within the ATM Gene Detected by MLPA, Including a Duplication of 41 kb from Exon 4 to 20, file e27ce42b-f8e7-2581-e053-d805fe0acbaa 1
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia, file e27ce42b-f8ea-2581-e053-d805fe0acbaa 1
Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress, file e27ce42b-f8ec-2581-e053-d805fe0acbaa 1
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions, file e27ce42c-3eb4-2581-e053-d805fe0acbaa 1
AKR1C3 is a biomarker and druggable target for oropharyngeal tumors, file e27ce431-4120-2581-e053-d805fe0acbaa 1
Totale 4.331
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Categoria #
all - tutte 5.568
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 5.568
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019182 0 0 0 0 0 0 0 0 0 0 103 79
2019/2020754 73 55 44 87 52 65 55 61 79 73 66 44
2020/2021746 39 70 60 40 61 48 48 68 94 76 68 74
2021/2022943 83 60 68 123 108 56 54 68 78 58 125 62
2022/2023786 37 40 109 103 61 73 98 67 57 71 34 36
2023/202450 7 6 9 1 5 2 9 5 1 5 0 0
Totale 4.331