CINECA IRIS Institutional Research Information System

GARELLI, Emanuela
 Distribuzione geografica
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Continente #
NA - Nord America 2.569
EU - Europa 1.762
AS - Asia 1.097
SA - Sud America 104
AF - Africa 12
OC - Oceania 12
Totale 5.556
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Nazione #
US - Stati Uniti d'America 2.526
CN - Cina 432
IT - Italia 404
SG - Singapore 348
SE - Svezia 297
DE - Germania 182
IE - Irlanda 180
FI - Finlandia 121
UA - Ucraina 117
FR - Francia 115
AT - Austria 104
BR - Brasile 90
KR - Corea 89
GB - Regno Unito 75
PL - Polonia 63
HK - Hong Kong 44
VN - Vietnam 44
CA - Canada 32
JP - Giappone 32
NL - Olanda 31
TW - Taiwan 31
IN - India 27
BE - Belgio 18
ES - Italia 14
RU - Federazione Russa 14
ID - Indonesia 13
AU - Australia 12
GR - Grecia 8
MX - Messico 8
NO - Norvegia 8
TR - Turchia 8
AR - Argentina 6
BD - Bangladesh 5
CZ - Repubblica Ceca 4
ZA - Sudafrica 4
CH - Svizzera 3
CL - Cile 3
CY - Cipro 3
IQ - Iraq 3
SN - Senegal 3
UZ - Uzbekistan 3
IR - Iran 2
MA - Marocco 2
PH - Filippine 2
PK - Pakistan 2
SA - Arabia Saudita 2
AZ - Azerbaigian 1
BG - Bulgaria 1
BH - Bahrain 1
BO - Bolivia 1
BY - Bielorussia 1
DK - Danimarca 1
EC - Ecuador 1
EG - Egitto 1
GT - Guatemala 1
IL - Israele 1
JO - Giordania 1
LK - Sri Lanka 1
LT - Lituania 1
NI - Nicaragua 1
OM - Oman 1
PE - Perù 1
PR - Porto Rico 1
PS - Palestinian Territory 1
PY - Paraguay 1
TG - Togo 1
VE - Venezuela 1
YT - Mayotte 1
Totale 5.556
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Città #
Chandler 400
Beijing 272
Houston 228
Singapore 210
Dublin 180
Santa Clara 121
Torino 120
Vienna 100
Dearborn 93
Jacksonville 89
Nyköping 86
Ann Arbor 80
Ashburn 78
Fairfield 68
Villeurbanne 63
Columbus 60
Medford 58
Princeton 58
Warsaw 58
Wilmington 48
Fremont 44
Seattle 36
Turin 35
Boardman 34
Hong Kong 31
Tainan City 30
Milan 29
Redwood City 29
Boston 28
Woodbridge 28
Cambridge 24
Dong Ket 23
Guangzhou 22
Munich 21
New York 21
Helsinki 17
Toronto 17
Brussels 15
Nanjing 15
Pune 14
Jakarta 13
Los Angeles 13
The Dalles 13
Verona 13
Hefei 12
Chicago 11
Norwalk 10
Rome 10
Buffalo 9
Pavia 8
Pisa 8
San Mateo 8
Bethesda 7
Chengdu 7
Nuremberg 7
Shanghai 7
Central 6
Dronten 6
Kunming 6
London 6
Takamatsu 6
Tokyo 6
Zhengzhou 6
Bologna 5
Des Moines 5
Falkenstein 5
Falls Church 5
Mexico City 5
Mountain View 5
Piemonte 5
San Diego 5
Tianjin 5
Turku 5
Washington 5
Wuhan 5
Xian 5
Ankara 4
Bari 4
Blackpool 4
Dallas 4
Dorchester 4
Jinan 4
Lachine 4
Las Vegas 4
Nürnberg 4
Padova 4
Rio de Janeiro 4
Shenzhen 4
São Paulo 4
Baghdad 3
Basel 3
Buenos Aires 3
Carini 3
Dhaka 3
Edinburgh 3
Florence 3
Hangzhou 3
Larnaca 3
Melbourne 3
Montottone 3
Totale 3.331
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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 278
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 266
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 251
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay 195
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia 164
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations 157
Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency 155
Analysis of seven ribosomal protein genes in Italian Diamond Blackfan anemia patients 134
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy 132
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia 129
High frequency of RPL5 and RPL11 gene mutation in Italians patients with Diamond-Blackfan anemia (DBA) 127
C-KIT IS EXPRESSED IN SOFT TISSUE SARCOMA OF NEUROECTODERMIC ORIGIN AND ITS LIGAND PREVENTS APOPTOSIS OF NEOPLASTIC CELLS 126
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein 116
UN DATABASE PER L’ANEMIA DI DIAMOND-BLACKFAN 114
Somatic mosaicism and variable expressivity in Diamond Blackfan anemia (DBA): a gross deletion involving the 19q13 locus in a patient with transient anemia 113
MUTAZIONI IN PROTEINE RIBOSOMIALI IN PAZIENTI ITALIANI CON ANEMIA DI BLACKFAN DIAMOND 111
Reduction of CFU-GM and Circulating Hematopoietic Progenitors in a Subgroup of Children With Chronic Neutropenia Associated With Severe Infections and Delayed Recovery 111
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. 108
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family 108
Neutropenie: considerazioni su una casistica monocentrica 106
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome 105
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. 105
Anemia di Diamond Blackfan (DBA) : Studio dell’espressione genica. 104
Le basi genetiche di una ribosomopatia: un database per l'anemia di Diamond-Blackfan 102
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. 99
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature 98
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis and amino acid metabolism 98
Diamond Blackfan anaemia in the Italian population 95
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. 94
Autoimmune lymphoproliferative syndrome. [Malattia autoimmune linfoproliferativa] 92
A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting 92
HDR syndrome: a novel "de novo" mutation in GATA3 gene. 91
Diamond-Blackfan Anemia: an Overview 90
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome 88
ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation 82
Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia. 81
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. 80
Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia. 79
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. 75
Diamond-Blackfan anemia: a congenital defect in erythropoiesis 74
L'anemia di diamond blackfan 74
RPS19 mutations in patients with Diamond-Blackfan anemia 72
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. 72
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. 70
Stem cell factor suppresses apoptosis in neuroblastoma cell lines. 68
Flt-3 and its ligand are expressed in neural crest-derived tumors and promote survival and proliferation of their cell lines. 67
Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia. 66
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression 59
The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients 57
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia 55
Remittent hyperammonemia in congenital portosystemic shunt 55
RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response 52
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies 50
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. 45
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer 27
The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation 20
Totale 5.734
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Categoria #
all - tutte 18.667
article - articoli 0
book - libri 0
conference - conferenze 3.369
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 22.036
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2024/2025967 5 101 45 95 245 41 38 23 80 66 97 131
2025/202653 53 0 0 0 0 0 0 0 0 0 0 0
Totale 5.734