CINECA IRIS Institutional Research Information System

MANCINI, CECILIA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 5.559
EU - Europa 4.244
AS - Asia 1.850
SA - Sud America 139
OC - Oceania 101
AF - Africa 31
Continente sconosciuto - Info sul continente non disponibili 1
Totale 11.925
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 5.374
IT - Italia 1.667
CN - Cina 870
DE - Germania 393
SE - Svezia 322
FR - Francia 314
SG - Singapore 306
IE - Irlanda 257
AT - Austria 234
GB - Regno Unito 234
JP - Giappone 149
FI - Finlandia 142
CA - Canada 140
ES - Italia 138
BR - Brasile 94
PL - Polonia 94
IN - India 90
UA - Ucraina 83
AU - Australia 82
KR - Corea 80
TR - Turchia 65
VN - Vietnam 63
NL - Olanda 62
HK - Hong Kong 56
BE - Belgio 53
TW - Taiwan 52
ID - Indonesia 43
RU - Federazione Russa 38
MX - Messico 33
CH - Svizzera 32
DK - Danimarca 30
AR - Argentina 28
RO - Romania 25
PT - Portogallo 24
CZ - Repubblica Ceca 19
IL - Israele 19
NZ - Nuova Zelanda 19
GR - Grecia 18
PK - Pakistan 18
IR - Iran 13
BA - Bosnia-Erzegovina 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
LU - Lussemburgo 4
PH - Filippine 4
ZA - Sudafrica 4
AE - Emirati Arabi Uniti 3
IQ - Iraq 3
PE - Perù 3
PR - Porto Rico 3
SA - Arabia Saudita 3
DZ - Algeria 2
LV - Lettonia 2
ME - Montenegro 2
PS - Palestinian Territory 2
SK - Slovacchia (Repubblica Slovacca) 2
TH - Thailandia 2
UY - Uruguay 2
UZ - Uzbekistan 2
BD - Bangladesh 1
BS - Bahamas 1
BY - Bielorussia 1
EC - Ecuador 1
EU - Europa 1
HN - Honduras 1
IS - Islanda 1
JM - Giamaica 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
Totale 11.925
Salva come PNG Salva come JPEG
Città #
Chandler 472
Fairfield 392
Houston 374
Ashburn 304
Beijing 299
Torino 297
Dublin 251
Singapore 235
Ann Arbor 233
Vienna 221
Redwood City 217
Wilmington 209
Woodbridge 197
Seattle 159
Santa Clara 148
Cambridge 144
Dearborn 135
Villeurbanne 109
Milan 101
Nyköping 91
Pisa 87
Turin 83
Shanghai 75
Warsaw 75
Fremont 63
Medford 62
Rome 60
Columbus 59
Princeton 58
Jacksonville 49
Paris 48
Dong Ket 47
Guangzhou 45
Helsinki 42
Jakarta 41
Genoa 39
Boardman 36
Tokyo 35
Washington 34
Boston 33
Nanjing 33
Munich 31
Madrid 30
Ottawa 30
Padova 30
Tainan City 30
Los Angeles 29
Mountain View 28
São Paulo 28
New York 27
Istanbul 26
Barcelona 25
Brussels 25
Toronto 25
London 24
Florence 21
Changsha 20
Wuhan 20
Edinburgh 19
San Diego 18
Hefei 17
New Haven 17
Trieste 17
Bethesda 16
Pavia 16
Phoenix 16
Shenyang 16
Taipei 16
Eitensheim 15
Hangzhou 15
Kunming 15
Naples 15
Seoul 15
Bologna 14
Brescia 14
Philadelphia 14
Xian 14
Buenos Aires 13
Melbourne 13
Montreal 13
Moscow 13
Brisbane 12
Dallas 12
Pittsburgh 12
Silver Spring 12
Tübingen 12
Hong Kong 11
Jinan 11
Lyndhurst 11
Rochester 11
Zhengzhou 11
Chicago 10
Mumbai 10
San Fernando 10
Vancouver 10
Modena 9
Norwalk 9
Nürnberg 9
Oxford 9
Rio De Janeiro 9
Totale 6.692
Salva come PNG Salva come JPEG
Nome #
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 738
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 626
Una mutazione di splicing con inserzione di uno pseudo-esone in un caso di leucoencefalopatia megalencefalica con cisti subcorticali 603
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria 541
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 530
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 518
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 489
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 465
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 460
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 320
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 319
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 299
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 263
ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia 263
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia 260
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 258
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 256
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 251
NT5E mutations and arterial calcifications. 230
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 211
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 210
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 209
Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare tipo 28. 202
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay 182
Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare 28. 170
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 159
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia 152
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy 152
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 150
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 148
Primary hyperoxaluria: analysis of GRHPR, HOGA1 genes and the promoter-sequence of AGXT gene in the Italian population 148
Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes. 137
Altered homeostasis of trace elements in the blood of SCA2 patients 129
Spinocerebellar ataxia type 28: cellular and animal models to unravel the pathogenesis and to identify potential therapeutic targets 128
Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript 123
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients 120
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM 110
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 109
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 107
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 105
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 103
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH 97
Cover Image, Volume 170A, Number 7, July 2016 96
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET 95
Mitochondrial stress response triggered by defects in protein synthesis quality control 91
Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease 90
Un caso atipico di SCAR1 caratterizzato da mioclono all'esordio rivela AFG3L2 come un potenziale modificatore genetico del fenotipo 81
Functional characterization of missense mutations in SCA28 patients, development of a mouse model of the disease and screening of candidate genes for cerebellar ataxia 80
Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines. 78
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 78
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias 76
Identification of pathogenic mechanisms of Spinocerebellar Ataxia, type 28 (SCA28). 73
One gene, two proteins: alternative splicing in human CD157/Bst1 unmasked 64
CHALLENGES IN MEDICAL GENETICS: EXOME SEQUENCING UNCOVERS RECESSIVE MUTATIONS IN TWO CASES WITH DE NOVO CNV. 63
Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment. 57
RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response 49
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. 47
Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features 33
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot 29
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis 13
Totale 12.243
Salva come PNG Salva come JPEG
Categoria #
all - tutte 27.255
article - articoli 0
book - libri 0
conference - conferenze 7.185
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 34.440
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020907 0 0 0 0 0 0 188 147 176 198 103 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
2024/20251.056 86 114 132 176 342 154 52 0 0 0 0 0
Totale 12.243