CINECA IRIS Institutional Research Information System

GARELLI, Emanuela
 Distribuzione geografica
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Continente #
NA - Nord America 2.491
EU - Europa 1.699
AS - Asia 932
SA - Sud America 15
OC - Oceania 12
AF - Africa 7
Totale 5.156
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Nazione #
US - Stati Uniti d'America 2.456
CN - Cina 419
IT - Italia 395
SE - Svezia 296
SG - Singapore 241
IE - Irlanda 180
DE - Germania 160
FI - Finlandia 116
UA - Ucraina 115
FR - Francia 110
AT - Austria 102
KR - Corea 89
GB - Regno Unito 70
PL - Polonia 62
VN - Vietnam 41
JP - Giappone 31
TW - Taiwan 31
NL - Olanda 30
CA - Canada 28
HK - Hong Kong 25
IN - India 22
BE - Belgio 18
ID - Indonesia 13
AU - Australia 12
ES - Italia 12
RU - Federazione Russa 11
BR - Brasile 9
GR - Grecia 8
TR - Turchia 6
MX - Messico 5
CZ - Repubblica Ceca 4
CH - Svizzera 3
CY - Cipro 3
NO - Norvegia 3
SN - Senegal 3
UZ - Uzbekistan 3
ZA - Sudafrica 3
AR - Argentina 2
PH - Filippine 2
PK - Pakistan 2
AZ - Azerbaigian 1
BG - Bulgaria 1
BO - Bolivia 1
BY - Bielorussia 1
CL - Cile 1
DK - Danimarca 1
EG - Egitto 1
IR - Iran 1
LK - Sri Lanka 1
LT - Lituania 1
NI - Nicaragua 1
PE - Perù 1
PR - Porto Rico 1
PY - Paraguay 1
SA - Arabia Saudita 1
Totale 5.156
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Città #
Chandler 400
Beijing 267
Houston 228
Dublin 180
Singapore 178
Santa Clara 120
Torino 120
Vienna 100
Dearborn 93
Jacksonville 89
Nyköping 86
Ann Arbor 80
Ashburn 75
Fairfield 68
Villeurbanne 63
Medford 58
Princeton 58
Warsaw 58
Columbus 53
Wilmington 48
Fremont 44
Seattle 36
Turin 35
Boardman 34
Tainan City 30
Redwood City 29
Milan 27
Woodbridge 27
Boston 26
Cambridge 24
Dong Ket 23
Guangzhou 22
New York 20
Helsinki 17
Toronto 17
Brussels 15
Hong Kong 15
Nanjing 15
Pune 14
Jakarta 13
Verona 13
Los Angeles 11
Chicago 10
Hefei 10
Norwalk 10
Rome 10
Buffalo 9
Pavia 8
Pisa 8
San Mateo 8
Bethesda 7
Chengdu 7
Shanghai 7
Central 6
Dronten 6
Kunming 6
London 6
Nuremberg 6
Takamatsu 6
Zhengzhou 6
Bologna 5
Des Moines 5
Falkenstein 5
Falls Church 5
Mountain View 5
Piemonte 5
Tianjin 5
Tokyo 5
Washington 5
Wuhan 5
Xian 5
Bari 4
Blackpool 4
Dorchester 4
Jinan 4
Lachine 4
Nürnberg 4
Padova 4
San Diego 4
Shenzhen 4
Ankara 3
Basel 3
Carini 3
Florence 3
Hangzhou 3
Larnaca 3
Las Vegas 3
Mexico City 3
Montottone 3
Muizenberg 3
Paderno 3
Philadelphia 3
Stavanger 3
Wietrzychowice 3
Adelaide 2
Albertville 2
Aylesbury 2
Barcelona 2
Beaverton 2
Bursa 2
Totale 3.210
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Nome #
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 262
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 248
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 234
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay 183
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia 155
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations 149
Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency 142
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy 128
Analysis of seven ribosomal protein genes in Italian Diamond Blackfan anemia patients 128
High frequency of RPL5 and RPL11 gene mutation in Italians patients with Diamond-Blackfan anemia (DBA) 122
C-KIT IS EXPRESSED IN SOFT TISSUE SARCOMA OF NEUROECTODERMIC ORIGIN AND ITS LIGAND PREVENTS APOPTOSIS OF NEOPLASTIC CELLS 116
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia 112
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein 109
MUTAZIONI IN PROTEINE RIBOSOMIALI IN PAZIENTI ITALIANI CON ANEMIA DI BLACKFAN DIAMOND 108
UN DATABASE PER L’ANEMIA DI DIAMOND-BLACKFAN 105
Somatic mosaicism and variable expressivity in Diamond Blackfan anemia (DBA): a gross deletion involving the 19q13 locus in a patient with transient anemia 104
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome 102
Reduction of CFU-GM and Circulating Hematopoietic Progenitors in a Subgroup of Children With Chronic Neutropenia Associated With Severe Infections and Delayed Recovery 102
Neutropenie: considerazioni su una casistica monocentrica 101
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. 101
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family 101
Anemia di Diamond Blackfan (DBA) : Studio dell’espressione genica. 100
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. 99
Le basi genetiche di una ribosomopatia: un database per l'anemia di Diamond-Blackfan 93
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis and amino acid metabolism 92
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature 90
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome. 88
Autoimmune lymphoproliferative syndrome. [Malattia autoimmune linfoproliferativa] 87
Diamond-Blackfan anemia: expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenetic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q. 85
HDR syndrome: a novel "de novo" mutation in GATA3 gene. 85
Diamond Blackfan anaemia in the Italian population 84
Diamond-Blackfan Anemia: an Overview 84
A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting 83
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome 78
ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation 78
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. 76
Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia. 72
Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia. 71
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. 70
Diamond-Blackfan anemia: a congenital defect in erythropoiesis 70
RPS19 mutations in patients with Diamond-Blackfan anemia 69
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. 68
L'anemia di diamond blackfan 68
Flt-3 and its ligand are expressed in neural crest-derived tumors and promote survival and proliferation of their cell lines. 66
Stem cell factor suppresses apoptosis in neuroblastoma cell lines. 64
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. 63
Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia. 59
The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients 55
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression 53
Remittent hyperammonemia in congenital portosystemic shunt 51
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia 50
RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response 49
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. 42
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies 40
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer 24
The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation 16
Totale 5.334
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Categoria #
all - tutte 17.163
article - articoli 0
book - libri 0
conference - conferenze 3.110
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 20.273
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020165 0 0 0 0 0 0 0 0 35 61 32 37
2020/2021704 52 50 72 43 65 49 49 34 82 55 74 79
2021/2022664 38 18 46 68 15 25 31 77 27 35 140 144
2022/20231.093 83 64 20 145 116 289 55 87 141 39 30 24
2023/2024405 63 72 13 24 29 52 36 10 7 32 22 45
2024/2025620 5 101 45 95 245 41 38 23 27 0 0 0
Totale 5.334