IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

COLOMBO, ELISA ADELE
 Distribuzione geografica
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Continente #
EU - Europa 3.077
NA - Nord America 2.807
AS - Asia 2.447
SA - Sud America 208
AF - Africa 85
OC - Oceania 19
Continente sconosciuto - Info sul continente non disponibili 3
Totale 8.646
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Nazione #
US - Stati Uniti d'America 2.713
GB - Regno Unito 1.012
CN - Cina 705
IT - Italia 684
SG - Singapore 680
DE - Germania 449
VN - Vietnam 301
HK - Hong Kong 240
SE - Svezia 190
BR - Brasile 175
RU - Federazione Russa 170
FR - Francia 144
IN - India 133
BD - Bangladesh 118
NL - Olanda 92
IE - Irlanda 76
FI - Finlandia 69
CA - Canada 65
TR - Turchia 57
CI - Costa d'Avorio 50
ID - Indonesia 41
KR - Corea 36
JP - Giappone 34
PL - Polonia 27
DK - Danimarca 26
UA - Ucraina 22
AU - Australia 19
BE - Belgio 16
AT - Austria 15
ES - Italia 15
PK - Pakistan 15
ZA - Sudafrica 15
CH - Svizzera 14
IQ - Iraq 13
PH - Filippine 12
AR - Argentina 11
MX - Messico 11
UZ - Uzbekistan 9
CZ - Repubblica Ceca 8
GR - Grecia 8
AE - Emirati Arabi Uniti 7
PT - Portogallo 7
CO - Colombia 6
EC - Ecuador 6
EU - Europa 6
IL - Israele 6
KE - Kenya 6
JM - Giamaica 5
LV - Lettonia 5
CL - Cile 4
KZ - Kazakistan 4
LT - Lituania 4
LU - Lussemburgo 4
MY - Malesia 4
SA - Arabia Saudita 4
TW - Taiwan 4
EG - Egitto 3
HN - Honduras 3
HU - Ungheria 3
LA - Repubblica Popolare Democratica del Laos 3
RO - Romania 3
SC - Seychelles 3
SK - Slovacchia (Repubblica Slovacca) 3
SY - Repubblica araba siriana 3
TH - Thailandia 3
CR - Costa Rica 2
DZ - Algeria 2
JO - Giordania 2
KW - Kuwait 2
LB - Libano 2
LK - Sri Lanka 2
NI - Nicaragua 2
NO - Norvegia 2
NP - Nepal 2
PA - Panama 2
PE - Perù 2
RS - Serbia 2
TN - Tunisia 2
VE - Venezuela 2
AL - Albania 1
AM - Armenia 1
AO - Angola 1
BB - Barbados 1
BG - Bulgaria 1
BT - Bhutan 1
DO - Repubblica Dominicana 1
GY - Guiana 1
HR - Croazia 1
IM - Isola di Man 1
IS - Islanda 1
KG - Kirghizistan 1
KH - Cambogia 1
KY - Cayman, isole 1
MA - Marocco 1
MT - Malta 1
PS - Palestinian Territory 1
PY - Paraguay 1
SD - Sudan 1
SI - Slovenia 1
SN - Senegal 1
Totale 8.648
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Città #
Southend 943
Ashburn 562
Singapore 406
Milan 315
Hong Kong 220
Hanover 193
Chandler 186
San Jose 181
Dallas 125
Beijing 122
Fairfield 115
Frankfurt am Main 102
Ho Chi Minh City 92
Seattle 87
Wilmington 80
Dublin 76
Council Bluffs 73
Hanoi 71
Los Angeles 71
New York 70
Princeton 62
Santa Clara 61
Ann Arbor 59
Houston 59
Woodbridge 54
Abidjan 50
Dearborn 44
Helsinki 42
Hefei 38
Phoenix 38
Cambridge 36
Jakarta 36
Toronto 36
Lauterbourg 32
Munich 32
Nanjing 32
Buffalo 31
Moscow 30
Bengaluru 28
Guangzhou 28
Shanghai 26
Da Nang 25
Des Moines 25
Istanbul 24
São Paulo 24
Redwood City 23
Warsaw 23
Naples 22
Jinan 20
Rome 20
Tokyo 19
Seoul 18
Columbus 17
Mountain View 17
London 15
Cangzhou 14
The Dalles 14
Amsterdam 13
Boardman 12
Brussels 12
Bühl 12
Redmond 12
Shenzhen 12
Verona 12
Chicago 11
Falls Church 11
Haiphong 11
Mumbai 11
Orem 11
Shenyang 11
Sunnyvale 11
Tianjin 11
Bologna 10
Florence 10
Hebei 10
Atlanta 9
Berlin 9
Hangzhou 9
Lappeenranta 9
Memphis 9
San Diego 9
Wuhan 9
Ankara 8
Düsseldorf 8
Jacksonville 8
Johannesburg 8
Medford 8
Nuremberg 8
Roubaix 8
Washington 8
Zhengzhou 8
Athens 7
Brno 7
Nanchang 7
Rho 7
Sydney 7
Tashkent 7
Thái Nguyên 7
Vienna 7
Zurich 7
Totale 5.665
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Nome #
Differential signature of the centrosomal MARK4 isoforms in glioma 611
Insights into the role of the microbiota and of short-chain fatty acids in Rubinstein–Taybi syndrome 527
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes 420
A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor 332
MARK4 : a tricky balance of L and S isoforms rules glial differentiation and glioma progression 299
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome : the interconnections of epigenetic machinery disorders 298
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations 280
Rothmund-Thomson syndrome: Insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome 268
Cohesin mutations induce chromatin conformation perturbation of the H19/IGF2 imprinted region and gene expression dysregulation in Cornelia de Lange syndrome cell lines 252
SINDROME DI ROTHMUND-THOMSON: CARATTERIZZAZIONE CLINICO-MOLECOLARE DI TRE NUOVI PAZIENTI 243
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies 237
VIABLE PHENOTYPE ASSOCIATED WITH NOVEL MUTATIONS OF INTEGRIN 3, ENCODING A LAMININS RECEPTOR INVOLVED IN STRUCTURAL AND FUNCTIONAL ORGANIZATION OF LUNG, KIDNEY AND SKIN EPITHELIA 233
Clericuzio-Type Poikiloderma With Neutropenia Syndrome in Three Sibs With Mutations in the C16orf57 Gene : Delineation of the Phenotype 230
Phenotypic overlap of Roberts and Baller-Gerold syndromes in two patients with craniosynostosis, limb reductions, and ESCO2 mutations 230
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms 229
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations 227
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene 224
Interplay between Genetic Disorders and Gut Microbial Community: Rubinstein-Taybi Syndrome as a Model 214
KMT2A : umbrella gene for multiple diseases 214
Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies 207
ANALISI SEMIQUANTITATIVA DELL’ESPRESSIONE DELLE ISOFORME DEL GENE C16orf57 IN UN PANNELLO DI LINEE CELLULARI E TESSUTI ED IN PAZIENTI CON POICHILODERMA CON NEUTROPENIA 201
p300 inhibition delays premature cellular senescence 200
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants 199
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 196
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype 195
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 188
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter 187
Clinical utility gene card for: poikiloderma with neutropenia 177
Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith–Wiedemann Syndrome Cell Lines 176
Candida albicans Biofilm Inhibition by Two Vaccinium macrocarpon (Cranberry) Urinary Metabolites: 5-(3',4'-{DihydroxyPhenyl})-gamma-Valerolactone and 4-Hydroxybenzoic Acid 175
Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib 174
Poikiloderma with neutropenia: Delineation of novel mutations and geographic clusters 165
Interplay between genetic disorders and gut microbial community: Rubinstein-Taybi syndrome as a model 164
NUOVE MUTAZIONI DEL GENE C16orf57 IN PAZIENTI AFFETTI DA POICHILODERMA CON NEUTROPENIA: ANALISI BIOINFORMATICA DELLA PROTEINA E PREDIZIONE DELL’EFFETTO DI TUTTE LE MUTAZIONI NOTE 160
Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling 153
USB1 (U6 snRNA biogenesis 1) 146
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed italian patients with hereditary fibrosis poikiloderma: Insights into cancer predisposition 139
Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management 134
Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models 20
null 3
Totale 8.927
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Categoria #
all - tutte 23.057
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 23.057
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021130 0 0 0 0 0 0 0 0 0 0 74 56
2021/2022809 39 68 52 85 84 66 69 54 95 41 33 123
2022/2023698 85 86 55 72 73 118 27 51 66 15 31 19
2023/2024753 18 27 31 39 128 30 31 268 11 24 66 80
2024/20251.288 52 99 28 119 91 103 73 101 84 144 139 255
2025/20262.972 269 257 274 237 263 148 546 129 291 201 357 0
Totale 8.927