CINECA IRIS Institutional Research Information System

GARELLI, Emanuela
 Distribuzione geografica
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Continente #
NA - Nord America 3.732
EU - Europa 2.194
AS - Asia 2.095
SA - Sud America 219
Continente sconosciuto - Info sul continente non disponibili 200
AF - Africa 33
OC - Oceania 13
Totale 8.486
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Nazione #
US - Stati Uniti d'America 3.602
SG - Singapore 786
IT - Italia 660
CN - Cina 588
SE - Svezia 302
VN - Vietnam 231
DE - Germania 207
IE - Irlanda 181
FR - Francia 175
BR - Brasile 170
FI - Finlandia 135
UA - Ucraina 123
AT - Austria 110
KR - Corea 101
GB - Regno Unito 93
HK - Hong Kong 84
CA - Canada 79
PL - Polonia 69
JP - Giappone 57
IN - India 52
NL - Olanda 40
BD - Bangladesh 38
TW - Taiwan 32
ID - Indonesia 23
IQ - Iraq 23
MX - Messico 21
BE - Belgio 20
ES - Italia 19
RU - Federazione Russa 19
AR - Argentina 17
TR - Turchia 13
AU - Australia 12
SA - Arabia Saudita 12
ZA - Sudafrica 12
EC - Ecuador 9
GR - Grecia 8
NO - Norvegia 8
PK - Pakistan 8
VE - Venezuela 8
CR - Costa Rica 6
CZ - Repubblica Ceca 6
AE - Emirati Arabi Uniti 5
PH - Filippine 5
CH - Svizzera 4
CO - Colombia 4
JM - Giamaica 4
NI - Nicaragua 4
NP - Nepal 4
PY - Paraguay 4
SN - Senegal 4
UZ - Uzbekistan 4
AZ - Azerbaigian 3
BO - Bolivia 3
CL - Cile 3
CY - Cipro 3
DZ - Algeria 3
GT - Guatemala 3
IR - Iran 3
JO - Giordania 3
MA - Marocco 3
MY - Malesia 3
RO - Romania 3
TT - Trinidad e Tobago 3
BG - Bulgaria 2
ET - Etiopia 2
HN - Honduras 2
LB - Libano 2
LT - Lituania 2
PA - Panama 2
PR - Porto Rico 2
PT - Portogallo 2
TH - Thailandia 2
AM - Armenia 1
BH - Bahrain 1
BY - Bielorussia 1
CG - Congo 1
DK - Danimarca 1
EE - Estonia 1
EG - Egitto 1
GD - Grenada 1
GE - Georgia 1
GM - Gambi 1
HR - Croazia 1
IL - Israele 1
KE - Kenya 1
KW - Kuwait 1
KY - Cayman, isole 1
LK - Sri Lanka 1
ML - Mali 1
MM - Myanmar 1
MT - Malta 1
MW - Malawi 1
OM - Oman 1
PE - Perù 1
PF - Polinesia Francese 1
PS - Palestinian Territory 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TG - Togo 1
Totale 8.283
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Città #
Singapore 487
Chandler 400
Beijing 345
Ashburn 283
San Jose 256
Houston 236
Dublin 181
Santa Clara 165
Torino 120
Vienna 102
Dearborn 93
Jacksonville 90
Nyköping 86
Ann Arbor 80
The Dalles 72
Los Angeles 70
Fairfield 69
Hong Kong 65
Villeurbanne 63
Warsaw 62
Columbus 61
Milan 60
Medford 58
Princeton 58
Turin 54
Lauterbourg 48
Wilmington 48
Fremont 45
Ho Chi Minh City 45
Buffalo 42
Hanoi 42
Seattle 38
New York 37
Boardman 35
Boston 35
Rome 33
Tainan City 30
Redwood City 29
Woodbridge 28
Dallas 27
Helsinki 27
Toronto 27
Munich 26
Cambridge 24
Guangzhou 24
Dong Ket 23
Tokyo 23
Hefei 22
Chicago 21
São Paulo 21
Frankfurt am Main 17
Brussels 16
Jakarta 15
Nanjing 15
Pune 15
Verona 15
Orem 14
Bologna 13
Haiphong 12
London 12
Montreal 12
Palermo 12
Seoul 12
Denver 11
Mexico City 11
Philadelphia 11
Baghdad 10
Bari 10
Council Bluffs 10
Norwalk 10
Shanghai 10
Da Nang 9
Nuremberg 9
Turku 9
Brooklyn 8
Chennai 8
Pavia 8
Pisa 8
San Mateo 8
Washington 8
Amsterdam 7
Bethesda 7
Chengdu 7
Dhaka 7
Florence 7
Memphis 7
Naples 7
Paris 7
Tianjin 7
Zhengzhou 7
Ankara 6
Atlanta 6
Central 6
Charlotte 6
Colombo 6
Des Moines 6
Dronten 6
Kunming 6
Mumbai 6
New Orleans 6
Totale 4.884
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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 385
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 375
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 351
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay 245
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations 229
Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency 220
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia 216
A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting 201
C-KIT IS EXPRESSED IN SOFT TISSUE SARCOMA OF NEUROECTODERMIC ORIGIN AND ITS LIGAND PREVENTS APOPTOSIS OF NEOPLASTIC CELLS 192
Analysis of seven ribosomal protein genes in Italian Diamond Blackfan anemia patients 190
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia 180
High frequency of RPL5 and RPL11 gene mutation in Italians patients with Diamond-Blackfan anemia (DBA) 180
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature 167
HDR syndrome: a novel "de novo" mutation in GATA3 gene. 167
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome 162
MUTAZIONI IN PROTEINE RIBOSOMIALI IN PAZIENTI ITALIANI CON ANEMIA DI BLACKFAN DIAMOND 162
Somatic mosaicism and variable expressivity in Diamond Blackfan anemia (DBA): a gross deletion involving the 19q13 locus in a patient with transient anemia 161
Anemia di Diamond Blackfan (DBA) : Studio dell’espressione genica. 160
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy 160
Reduction of CFU-GM and Circulating Hematopoietic Progenitors in a Subgroup of Children With Chronic Neutropenia Associated With Severe Infections and Delayed Recovery 160
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. 159
Diamond Blackfan anaemia in the Italian population 157
UN DATABASE PER L’ANEMIA DI DIAMOND-BLACKFAN 156
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein 154
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. 151
Le basi genetiche di una ribosomopatia: un database per l'anemia di Diamond-Blackfan 148
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family 148
Neutropenie: considerazioni su una casistica monocentrica 143
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. 143
Diamond-Blackfan Anemia: an Overview 143
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome 141
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis and amino acid metabolism 138
Autoimmune lymphoproliferative syndrome. [Malattia autoimmune linfoproliferativa] 136
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. 131
Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia. 128
Diamond-Blackfan anemia: a congenital defect in erythropoiesis 127
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. 123
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. 121
ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation 121
Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia. 115
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. 111
The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients 108
RPS19 mutations in patients with Diamond-Blackfan anemia 105
Flt-3 and its ligand are expressed in neural crest-derived tumors and promote survival and proliferation of their cell lines. 96
Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia. 96
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies 95
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. 95
L'anemia di diamond blackfan 94
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression 93
Stem cell factor suppresses apoptosis in neuroblastoma cell lines. 92
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. 86
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia 80
RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response 78
Remittent hyperammonemia in congenital portosystemic shunt 71
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer 56
The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation 53
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome 31
Totale 8.486
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Categoria #
all - tutte 26.191
article - articoli 0
book - libri 0
conference - conferenze 4.625
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 30.816
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022626 0 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
2025/20262.532 296 99 114 218 297 91 461 82 217 183 101 373
2026/2027273 148 125 0 0 0 0 0 0 0 0 0 0
Totale 8.486