CINECA IRIS Institutional Research Information System

MANCINI, CECILIA
 Distribuzione geografica
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Continente #
NA - Nord America 5.214
EU - Europa 4.053
AS - Asia 1.473
SA - Sud America 133
OC - Oceania 90
AF - Africa 31
Continente sconosciuto - Info sul continente non disponibili 1
Totale 10.995
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Nazione #
US - Stati Uniti d'America 5.043
IT - Italia 1.573
CN - Cina 770
DE - Germania 357
SE - Svezia 322
FR - Francia 311
IE - Irlanda 255
AT - Austria 228
GB - Regno Unito 221
JP - Giappone 139
FI - Finlandia 135
CA - Canada 132
ES - Italia 126
SG - Singapore 113
PL - Polonia 94
BR - Brasile 91
IN - India 83
UA - Ucraina 83
KR - Corea 78
AU - Australia 75
VN - Vietnam 63
TR - Turchia 59
BE - Belgio 52
NL - Olanda 51
TW - Taiwan 49
HK - Hong Kong 38
RU - Federazione Russa 36
CH - Svizzera 31
DK - Danimarca 30
AR - Argentina 28
MX - Messico 28
RO - Romania 25
PT - Portogallo 24
CZ - Repubblica Ceca 19
IL - Israele 19
GR - Grecia 17
PK - Pakistan 17
NZ - Nuova Zelanda 15
IR - Iran 12
BA - Bosnia-Erzegovina 10
ID - Indonesia 10
NO - Norvegia 10
SN - Senegal 10
HU - Ungheria 9
SI - Slovenia 8
TN - Tunisia 8
CO - Colombia 6
CR - Costa Rica 6
CL - Cile 5
HR - Croazia 5
LT - Lituania 5
NG - Nigeria 5
RS - Serbia 5
ZA - Sudafrica 4
AE - Emirati Arabi Uniti 3
PH - Filippine 3
PR - Porto Rico 3
SA - Arabia Saudita 3
DZ - Algeria 2
IQ - Iraq 2
LU - Lussemburgo 2
LV - Lettonia 2
ME - Montenegro 2
PE - Perù 2
PS - Palestinian Territory 2
SK - Slovacchia (Repubblica Slovacca) 2
TH - Thailandia 2
BD - Bangladesh 1
BS - Bahamas 1
BY - Bielorussia 1
EC - Ecuador 1
EU - Europa 1
HN - Honduras 1
IS - Islanda 1
JO - Giordania 1
KW - Kuwait 1
KZ - Kazakistan 1
LB - Libano 1
MA - Marocco 1
MD - Moldavia 1
MY - Malesia 1
NP - Nepal 1
SD - Sudan 1
UZ - Uzbekistan 1
Totale 10.995
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Città #
Chandler 472
Fairfield 392
Houston 374
Beijing 297
Torino 297
Ashburn 296
Dublin 249
Ann Arbor 233
Vienna 220
Redwood City 217
Wilmington 209
Woodbridge 197
Seattle 158
Cambridge 144
Dearborn 135
Villeurbanne 109
Milan 97
Nyköping 91
Pisa 87
Warsaw 75
Shanghai 71
Singapore 66
Fremont 63
Medford 62
Turin 62
Princeton 58
Rome 52
Jacksonville 49
Paris 48
Dong Ket 47
Genoa 37
Boardman 35
Helsinki 35
Washington 34
Nanjing 33
Tokyo 33
Boston 32
Guangzhou 31
Ottawa 30
Tainan City 30
Mountain View 28
Padova 28
São Paulo 28
Los Angeles 27
Barcelona 24
Brussels 24
Istanbul 24
New York 24
Toronto 23
Madrid 21
Changsha 20
London 20
Edinburgh 19
San Diego 18
Florence 17
Hefei 17
New Haven 17
Wuhan 17
Pavia 16
Phoenix 16
Taipei 16
Bethesda 15
Eitensheim 15
Kunming 15
Munich 15
Naples 15
Seoul 15
Bologna 14
Philadelphia 14
Xian 14
Buenos Aires 13
Hangzhou 13
Montreal 13
Shenyang 13
Trieste 13
Brescia 12
Brisbane 12
Dallas 12
Pittsburgh 12
Silver Spring 12
Jinan 11
Lyndhurst 11
Moscow 11
Tübingen 11
Melbourne 10
San Fernando 10
Santa Clara 10
Vancouver 10
Zhengzhou 10
Hong Kong 9
Mumbai 9
Norwalk 9
Nürnberg 9
Oxford 9
Rio De Janeiro 9
Strasbourg 9
Atlanta 8
Central District 8
Chongqing 8
Dresden 8
Totale 6.147
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Nome #
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 716
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 595
Una mutazione di splicing con inserzione di uno pseudo-esone in un caso di leucoencefalopatia megalencefalica con cisti subcorticali 565
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria 516
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 506
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 472
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 463
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 431
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 428
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 288
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 283
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 250
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 245
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia 244
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 241
ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia 240
NT5E mutations and arterial calcifications. 225
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 219
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 201
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 194
Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare tipo 28. 186
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay 171
Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare 28. 153
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy 146
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 142
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia 142
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 140
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 133
Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes. 128
Primary hyperoxaluria: analysis of GRHPR, HOGA1 genes and the promoter-sequence of AGXT gene in the Italian population 127
Spinocerebellar ataxia type 28: cellular and animal models to unravel the pathogenesis and to identify potential therapeutic targets 122
Altered homeostasis of trace elements in the blood of SCA2 patients 118
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients 110
Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript 107
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM 100
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 97
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 94
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 90
Cover Image, Volume 170A, Number 7, July 2016 90
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH 88
Mitochondrial stress response triggered by defects in protein synthesis quality control 86
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 85
Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease 83
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET 83
Un caso atipico di SCAR1 caratterizzato da mioclono all'esordio rivela AFG3L2 come un potenziale modificatore genetico del fenotipo 71
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 71
Functional characterization of missense mutations in SCA28 patients, development of a mouse model of the disease and screening of candidate genes for cerebellar ataxia 69
Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines. 68
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias 64
Identification of pathogenic mechanisms of Spinocerebellar Ataxia, type 28 (SCA28). 61
CHALLENGES IN MEDICAL GENETICS: EXOME SEQUENCING UNCOVERS RECESSIVE MUTATIONS IN TWO CASES WITH DE NOVO CNV. 59
One gene, two proteins: alternative splicing in human CD157/Bst1 unmasked 51
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
RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response 44
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. 41
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot 15
Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features 9
Totale 11.312
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Categoria #
all - tutte 23.648
article - articoli 0
book - libri 0
conference - conferenze 6.155
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 29.803
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.783 0 74 100 221 131 350 188 147 176 198 103 95
2020/20211.353 86 106 117 119 124 103 115 84 127 111 102 159
2021/20221.420 85 60 104 206 67 114 82 84 66 81 296 175
2022/20231.702 131 139 71 165 158 315 130 119 183 80 96 115
2023/20241.161 100 123 88 77 87 132 133 88 31 60 117 125
2024/2025125 86 39 0 0 0 0 0 0 0 0 0 0
Totale 11.312