IRIS Institutional Research Information System - OPENBS Open Archive UniBS

CHIARELLI, Nicola
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 6.352
EU - Europa 4.721
AS - Asia 2.640
SA - Sud America 491
Continente sconosciuto - Info sul continente non disponibili 264
AF - Africa 73
OC - Oceania 16
Totale 14.557
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 6.185
PL - Polonia 2.343
SG - Singapore 912
CN - Cina 845
IT - Italia 672
UA - Ucraina 450
BR - Brasile 382
HK - Hong Kong 269
DE - Germania 266
FR - Francia 238
VN - Vietnam 223
FI - Finlandia 217
GB - Regno Unito 195
TR - Turchia 92
RU - Federazione Russa 88
IE - Irlanda 86
CA - Canada 85
IN - India 80
BD - Bangladesh 46
ID - Indonesia 38
NL - Olanda 36
ES - Italia 26
AR - Argentina 25
MX - Messico 24
BE - Belgio 23
ZA - Sudafrica 23
AT - Austria 19
EC - Ecuador 19
PK - Pakistan 19
IQ - Iraq 18
VE - Venezuela 17
CL - Cile 16
JP - Giappone 16
PH - Filippine 16
SE - Svezia 16
AU - Australia 13
CR - Costa Rica 13
HN - Honduras 13
CO - Colombia 11
NG - Nigeria 11
SA - Arabia Saudita 11
LT - Lituania 10
MA - Marocco 10
IL - Israele 9
CH - Svizzera 8
JM - Giamaica 8
AE - Emirati Arabi Uniti 7
BO - Bolivia 6
PY - Paraguay 6
TN - Tunisia 6
CZ - Repubblica Ceca 5
EU - Europa 5
PR - Porto Rico 5
TW - Taiwan 5
UY - Uruguay 5
BB - Barbados 4
MU - Mauritius 4
MY - Malesia 4
NP - Nepal 4
PE - Perù 4
SC - Seychelles 4
SV - El Salvador 4
TT - Trinidad e Tobago 4
JO - Giordania 3
KE - Kenya 3
KZ - Kazakistan 3
NZ - Nuova Zelanda 3
PT - Portogallo 3
AZ - Azerbaigian 2
BG - Bulgaria 2
BH - Bahrain 2
CG - Congo 2
DZ - Algeria 2
EE - Estonia 2
EG - Egitto 2
ET - Etiopia 2
GT - Guatemala 2
HR - Croazia 2
HT - Haiti 2
HU - Ungheria 2
LB - Libano 2
LV - Lettonia 2
NO - Norvegia 2
SY - Repubblica araba siriana 2
TH - Thailandia 2
UZ - Uzbekistan 2
XK - ???statistics.table.value.countryCode.XK??? 2
AL - Albania 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BY - Bielorussia 1
CW - ???statistics.table.value.countryCode.CW??? 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
GA - Gabon 1
GD - Grenada 1
GM - Gambi 1
GR - Grecia 1
IS - Islanda 1
KG - Kirghizistan 1
Totale 14.290
Salva come PNG Salva come JPEG
Città #
Warsaw 2.342
Ashburn 573
Singapore 497
Fairfield 477
San Jose 380
Woodbridge 326
Jacksonville 320
Hong Kong 266
Houston 247
Beijing 205
Council Bluffs 203
Brescia 202
Chandler 198
Wilmington 196
New York 193
Cambridge 191
Seattle 179
Ann Arbor 174
Princeton 163
Helsinki 162
Los Angeles 150
The Dalles 147
Dublin 89
Chicago 85
Dong Ket 77
Nanjing 77
Lauterbourg 73
Istanbul 68
Munich 68
Buffalo 58
Dearborn 56
Lancaster 54
Milan 49
Dallas 47
Santa Clara 46
Ho Chi Minh City 45
Des Moines 44
Jinan 43
San Francisco 43
Rome 42
San Diego 39
Phoenix 36
Moscow 35
São Paulo 34
Redondo Beach 33
Jakarta 31
London 31
Shenyang 30
Salt Lake City 29
Columbus 27
Shanghai 27
Changsha 26
Hebei 25
Orem 25
North Bergen 24
Tianjin 23
Turku 23
Hanoi 22
Brussels 21
Elk Grove Village 21
Toronto 21
Boardman 18
Montreal 18
Nanchang 18
Brooklyn 17
Johannesburg 17
Omaha 17
Tampa 17
Zhengzhou 17
Denver 16
Hangzhou 16
Turin 16
Nuremberg 15
Washington 15
Atlanta 13
Belo Horizonte 13
El Cajon 13
Rio de Janeiro 13
Tokyo 13
Baghdad 12
Chennai 12
Jiaxing 12
Mexico City 12
Abuja 11
Fuzhou 11
Guangzhou 11
Miami 11
Porto Alegre 11
Vienna 11
Boston 10
Naples 10
Ningbo 10
Salerno 10
Taizhou 10
Falls Church 9
Manchester 9
Da Nang 8
Dhaka 8
Haiphong 8
Norwalk 8
Totale 9.934
Salva come PNG Salva come JPEG
Nome #
MURC/cavin-4 is co-expressed with Caveolin-3 in rhabdomyosarcoma tumors and its silencing prevents myogenic differentiation in the human embryonal RD cell line 609
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 354
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 347
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 339
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 313
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 308
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 304
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 303
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 302
GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts 299
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations 289
GLUT10 deficiency leads to oxidative stress and non-canonical avb3 integrin-mediated TGF signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts. 288
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 280
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 275
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 262
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 262
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 261
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 255
Dermal fibroblast-to-myofibroblast transition sustained by αvβ3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders 242
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 241
Caveolin-1, Caveolin-2 and Cavin-1 are strong predictors of adipogenic differentiation in human tumors and cell lines of liposarcoma 235
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 232
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review. 229
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 223
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 217
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. 215
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 214
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene 211
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 210
MURC/cavin-4 is co-expressed with Caveolin-3 in rhabdomyosarcoma tumors and its silencing prevents myogenic differentiation in the human embryonal RD cell line 203
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma 197
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 183
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 180
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 177
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 172
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 172
Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers–Danlos Syndrome: Focus on Vascular Prevention 165
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees. 163
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 162
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 161
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 161
Matrix metalloproteinases inhibition by doxycycline rescues extracellular matrix organization and partly reverts myofibroblast differentiation in hypermobile ehlers-danlos syndrome dermal fibroblasts: A potential therapeutic target? 160
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 157
Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker 154
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 148
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts 143
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 143
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 139
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with the novel homozygous c.1411+1G>A mutation in the SLC2A10 Gene. 138
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3. 135
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA 131
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 129
Modulation of the facilitative glucose transporters (SLC2A) gene family expression in arterial tortuosity syndrome skin fibroblasts and aortic vascular smooth muscle cells. 122
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency 121
Caratterizzazione di una famiglia italiana affetta da artrogriposi distale di tipo 2B e mutazione ricorrente p.R63H nel gene TNNT3. 117
Characterisation of a large duplication in the COL5A1 gene in a classic Ehlers-Danlos syndrome patient 108
Integrative Multi-Omics Approach in Vascular Ehlers–Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts 105
Sindrome di Ehlers-Danlos ipermobile/sindrome da ipermobilità articolare: clinica, assistenza e ricerca in Italia 103
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms 101
Caratterizzazione di slc2a10, l’ortologo del gene umano responsabile della Sindrome delle Arterie Tortuose, in Danio rerio 99
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center 99
In search of the SLC2A10 gene role in the etiopathogenesis of arterial tortuosity syndrome by transcriptomic and biochemical approaches 87
Characterization of a 24-year-old woman with osteogenesis imperfecta/Ehlers-Danlos syndrome overlapping phenotype due to the novel c.3469_3470del mutation in the COL1A1 gene. 86
Classic Ehlers-Danlos sindrome: clinical and molecular characterization of 36 patients. 83
Identificazione e caratterizzazione dei geni hly e iap nei sierotipi di Listeria monocytogenes e comparazione con Listeria spp 80
Sindrome di Ehlers-Danlos di tipo ipermobile: variabilità clinica in 50 pazienti italiani 76
Further delineation of Loeys-Dietz syndrome type IV in a family with mild vascular involvement and a TGFB2 splicing mutation 76
GLUT10 facilitates dehydroascorbic acid uptake in the endoplasmic reticulum: lessons from arterial tortuosity syndrome 76
Ptosi viscerale generalizzata recidivante in una paziente con segni di connettivopatia ereditaria. 75
In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by gene expression analysis. 72
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa. 72
Characterization of two families with Arterial Tortuosity Syndrome with homozygosity for a novel and a recurrent missense mutations in SLC2A10 gene. 72
Molecular characterization and transcriptome-wide expression profiling of two patients with spondyloepimetaphyseal dysplasia with joint laxity type 1 70
Cloning and expression of the facilitative glucose transporter GLUT10 in arterial tortuosity syndrome skin fibroblast rescue a control-like phenotype. 69
In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by transcriptomic and biochemical approaches. XV 68
Studio del gene malattia SLC2A10 in zebrafish 68
Diagnosi prenatale per sindrome delle arterie tortuose: identificazione di una nuova mutazione nel gene SLC2A10 in corso di gravidanza a rischio. 66
Le sindromi di Ehlers-Danlos 64
L’importanza della consulenza genetica in una famiglia italiana affetta da sindrome di Loeys-Dietz con marcata variabilità clinica. 63
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa. 63
Clinical evaluation of 80 Ehlers-Danlos syndrome hypermobility type patients 61
Sindrome di LEOPARD: caratterizzazione di due famiglie italiane con mutazioni ricorrenti p.T468M/P nel gene PTPN11. 60
Exome sequencing allows for the rapid identification of two novel ATP6V0A2 mutations in an infant with cutis laxa. 58
Clinical and molecular characterization of a family with LDS type IV: identification of the first TGFB2 splice mutation. 58
Identification and characterization of hly and iap genes in Listeria monocytogenes serotypes and comparison with Listeria spp 57
Un caso paradigmatico di Sindrome di Marfan con una nuova mutazione nel gene FBN1. 57
Proximity extension assay-based serum proteomic profiling identifies shared protein signatures in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders 53
Totale 14.557
Salva come PNG Salva come JPEG
Categoria #
all - tutte 59.118
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 59.118
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022527 0 0 0 26 19 42 28 54 45 80 68 165
2022/2023604 100 9 15 45 48 168 2 63 91 7 27 29
2023/2024769 60 18 49 69 53 186 24 18 143 35 22 92
2024/20251.715 9 3 23 235 137 137 122 48 156 63 573 209
2025/20263.267 300 399 199 426 348 262 571 124 164 280 136 58
2026/20271.153 175 258 301 419 0 0 0 0 0 0 0 0
Totale 14.557