CINECA IRIS Institutional Research Information System

GARELLI, Emanuela
 Distribuzione geografica
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Continente #
NA - Nord America 2.182
EU - Europa 1.634
AS - Asia 626
OC - Oceania 11
AF - Africa 6
SA - Sud America 4
Totale 4.463
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Nazione #
US - Stati Uniti d'America 2.154
CN - Cina 390
IT - Italia 372
SE - Svezia 296
IE - Irlanda 180
DE - Germania 147
UA - Ucraina 115
FI - Finlandia 112
FR - Francia 110
AT - Austria 99
KR - Corea 89
PL - Polonia 61
GB - Regno Unito 60
VN - Vietnam 40
TW - Taiwan 31
NL - Olanda 26
CA - Canada 24
JP - Giappone 24
IN - India 21
BE - Belgio 13
ES - Italia 12
AU - Australia 11
RU - Federazione Russa 11
HK - Hong Kong 10
GR - Grecia 8
SG - Singapore 5
CZ - Repubblica Ceca 4
TR - Turchia 4
CH - Svizzera 3
CY - Cipro 3
NO - Norvegia 3
SN - Senegal 3
ZA - Sudafrica 3
BR - Brasile 2
MX - Messico 2
PH - Filippine 2
PK - Pakistan 2
UZ - Uzbekistan 2
AR - Argentina 1
BG - Bulgaria 1
CL - Cile 1
DK - Danimarca 1
ID - Indonesia 1
IR - Iran 1
NI - Nicaragua 1
PR - Porto Rico 1
SA - Arabia Saudita 1
Totale 4.463
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Città #
Chandler 400
Beijing 267
Houston 228
Dublin 180
Torino 120
Vienna 98
Dearborn 93
Jacksonville 89
Nyköping 86
Ann Arbor 80
Fairfield 68
Ashburn 67
Villeurbanne 63
Medford 58
Princeton 58
Warsaw 57
Wilmington 48
Fremont 44
Seattle 36
Boardman 32
Tainan City 30
Redwood City 29
Woodbridge 27
Boston 26
Turin 25
Cambridge 24
Dong Ket 23
Milan 23
New York 20
Pune 14
Toronto 14
Guangzhou 13
Helsinki 13
Nanjing 13
Verona 13
Brussels 10
Hefei 10
Norwalk 10
Rome 10
Buffalo 9
Chicago 8
Pavia 8
Pisa 8
San Mateo 8
Bethesda 7
Chengdu 7
Shanghai 7
Central 6
Dronten 6
Kunming 6
Takamatsu 6
Zhengzhou 6
Bologna 5
Des Moines 5
Falls Church 5
Los Angeles 5
Mountain View 5
Piemonte 5
Tianjin 5
Washington 5
Xian 5
Blackpool 4
Dorchester 4
Jinan 4
Lachine 4
Nürnberg 4
Padova 4
San Diego 4
Shenzhen 4
Wuhan 4
Ankara 3
Basel 3
Carini 3
Columbus 3
Florence 3
Hangzhou 3
Larnaca 3
Las Vegas 3
London 3
Muizenberg 3
Paderno 3
Philadelphia 3
Stavanger 3
Wietrzychowice 3
Adelaide 2
Albertville 2
Aylesbury 2
Barcelona 2
Bari 2
Beaverton 2
Central District 2
Chiba 2
Clearwater 2
Dallas 2
Düsseldorf 2
Ferrara 2
Grugliasco 2
Hanwell 2
Harbin 2
Huelva 2
Totale 2.766
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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 239
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 219
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 215
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay 168
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia 139
Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency 127
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations 125
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy 122
High frequency of RPL5 and RPL11 gene mutation in Italians patients with Diamond-Blackfan anemia (DBA) 106
Analysis of seven ribosomal protein genes in Italian Diamond Blackfan anemia patients 106
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein 102
C-KIT IS EXPRESSED IN SOFT TISSUE SARCOMA OF NEUROECTODERMIC ORIGIN AND ITS LIGAND PREVENTS APOPTOSIS OF NEOPLASTIC CELLS 99
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia 98
MUTAZIONI IN PROTEINE RIBOSOMIALI IN PAZIENTI ITALIANI CON ANEMIA DI BLACKFAN DIAMOND 94
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. 92
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome 91
UN DATABASE PER L’ANEMIA DI DIAMOND-BLACKFAN 89
Anemia di Diamond Blackfan (DBA) : Studio dell’espressione genica. 88
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family 87
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. 86
Reduction of CFU-GM and Circulating Hematopoietic Progenitors in a Subgroup of Children With Chronic Neutropenia Associated With Severe Infections and Delayed Recovery 86
Neutropenie: considerazioni su una casistica monocentrica 85
Le basi genetiche di una ribosomopatia: un database per l'anemia di Diamond-Blackfan 85
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis and amino acid metabolism 83
Somatic mosaicism and variable expressivity in Diamond Blackfan anemia (DBA): a gross deletion involving the 19q13 locus in a patient with transient anemia 82
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature 79
Autoimmune lymphoproliferative syndrome. [Malattia autoimmune linfoproliferativa] 78
Diamond Blackfan anaemia in the Italian population 75
HDR syndrome: a novel "de novo" mutation in GATA3 gene. 73
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. 71
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. 70
A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting 70
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome 69
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. 67
Diamond-Blackfan Anemia: an Overview 65
Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia. 64
L'anemia di diamond blackfan 64
RPS19 mutations in patients with Diamond-Blackfan anemia 63
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. 63
Diamond-Blackfan anemia: a congenital defect in erythropoiesis 61
Flt-3 and its ligand are expressed in neural crest-derived tumors and promote survival and proliferation of their cell lines. 60
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. 57
ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation 57
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. 56
Stem cell factor suppresses apoptosis in neuroblastoma cell lines. 55
Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia. 55
Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia. 52
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression 46
The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients 46
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia 45
Remittent hyperammonemia in congenital portosystemic shunt 45
RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response 42
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. 33
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer 20
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies 19
The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation 8
Totale 4.641
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Categoria #
all - tutte 12.613
article - articoli 0
book - libri 0
conference - conferenze 2.245
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 14.858
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019117 0 0 0 0 0 0 0 0 0 25 62 30
2019/2020638 22 18 33 52 41 215 67 25 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
2023/2024332 63 72 13 24 29 52 36 10 7 26 0 0
Totale 4.641