IRIS Institutional Research Information System - OPENBS Open Archive UniBS

CHIARELLI, Nicola
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 5.176
EU - Europa 4.570
AS - Asia 2.571
SA - Sud America 475
AF - Africa 68
OC - Oceania 14
Continente sconosciuto - Info sul continente non disponibili 7
Totale 12.881
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 5.098
PL - Polonia 2.343
SG - Singapore 898
CN - Cina 828
IT - Italia 576
UA - Ucraina 449
BR - Brasile 376
DE - Germania 264
HK - Hong Kong 264
FR - Francia 237
VN - Vietnam 223
FI - Finlandia 217
GB - Regno Unito 176
TR - Turchia 89
IE - Irlanda 86
RU - Federazione Russa 80
IN - India 79
CA - Canada 47
ID - Indonesia 36
BD - Bangladesh 34
NL - Olanda 32
AR - Argentina 23
BE - Belgio 23
ZA - Sudafrica 23
MX - Messico 22
ES - Italia 21
AT - Austria 19
IQ - Iraq 18
EC - Ecuador 16
JP - Giappone 16
PK - Pakistan 16
VE - Venezuela 16
SE - Svezia 15
CL - Cile 14
PH - Filippine 12
AU - Australia 11
NG - Nigeria 11
SA - Arabia Saudita 10
CO - Colombia 9
MA - Marocco 9
AE - Emirati Arabi Uniti 7
BO - Bolivia 6
PY - Paraguay 6
TN - Tunisia 6
CZ - Repubblica Ceca 5
EU - Europa 5
LT - Lituania 5
TW - Taiwan 5
UY - Uruguay 5
IL - Israele 4
MU - Mauritius 4
MY - Malesia 4
NP - Nepal 4
PE - Perù 4
BB - Barbados 3
JO - Giordania 3
KE - Kenya 3
NZ - Nuova Zelanda 3
PT - Portogallo 3
AZ - Azerbaigian 2
BG - Bulgaria 2
BH - Bahrain 2
CG - Congo 2
CH - Svizzera 2
DZ - Algeria 2
EG - Egitto 2
ET - Etiopia 2
HU - Ungheria 2
JM - Giamaica 2
KZ - Kazakistan 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
DK - Danimarca 1
DO - Repubblica Dominicana 1
GA - Gabon 1
GM - Gambi 1
GR - Grecia 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
IS - Islanda 1
KG - Kirghizistan 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LK - Sri Lanka 1
MD - Moldavia 1
MR - Mauritania 1
OM - Oman 1
PS - Palestinian Territory 1
QA - Qatar 1
RS - Serbia 1
Totale 12.879
Salva come PNG Salva come JPEG
Città #
Warsaw 2.341
Ashburn 514
Singapore 490
Fairfield 476
Woodbridge 326
Jacksonville 318
Hong Kong 261
Houston 243
San Jose 240
Brescia 202
Chandler 198
Beijing 197
Wilmington 195
Cambridge 191
Seattle 177
Ann Arbor 174
New York 166
Helsinki 162
Princeton 160
The Dalles 145
Los Angeles 127
Council Bluffs 91
Dublin 86
Chicago 79
Dong Ket 77
Nanjing 77
Lauterbourg 73
Istanbul 68
Munich 68
Buffalo 56
Dearborn 56
Lancaster 54
Ho Chi Minh City 45
Des Moines 44
Jinan 43
Milan 40
Moscow 35
Redondo Beach 33
São Paulo 32
Jakarta 30
Shenyang 30
Salt Lake City 29
London 27
Changsha 26
Rome 26
San Francisco 26
Dallas 25
Hebei 25
Shanghai 25
Phoenix 24
Santa Clara 24
San Diego 23
Tianjin 23
Turku 23
Hanoi 22
Brussels 21
Elk Grove Village 20
Nanchang 18
Orem 18
Toronto 18
Johannesburg 17
Zhengzhou 17
Hangzhou 16
Nuremberg 15
Tampa 15
Belo Horizonte 13
Boardman 13
Montreal 13
Rio de Janeiro 13
Tokyo 13
Washington 13
Baghdad 12
Jiaxing 12
Turin 12
Abuja 11
Brooklyn 11
Chennai 11
Fuzhou 11
Guangzhou 11
Mexico City 11
Porto Alegre 11
Vienna 11
Ningbo 10
Salerno 10
Taizhou 10
Falls Church 9
Da Nang 8
Dhaka 8
Haiphong 8
Miami 8
Norwalk 8
Sterling 8
Albuquerque 7
Atlanta 7
Boston 7
Frankfurt am Main 7
Lanzhou 7
Lappeenranta 7
Manchester 7
Venice 7
Totale 9.288
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 593
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 336
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 315
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 309
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 295
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 292
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 292
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 288
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 288
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 280
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 279
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. 272
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 265
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 255
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 252
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 240
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 233
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 231
Caveolin-1, Caveolin-2 and Cavin-1 are strong predictors of adipogenic differentiation in human tumors and cell lines of liposarcoma 228
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 225
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. 217
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 214
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 206
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. 199
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 197
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 195
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 194
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 194
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 191
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma 185
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 181
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 163
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 158
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 157
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 155
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 155
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 151
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 150
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 150
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 147
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. 141
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 139
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 132
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. 128
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3. 127
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 120
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 119
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA 118
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 118
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts 116
Modulation of the facilitative glucose transporters (SLC2A) gene family expression in arterial tortuosity syndrome skin fibroblasts and aortic vascular smooth muscle cells. 113
Caratterizzazione di una famiglia italiana affetta da artrogriposi distale di tipo 2B e mutazione ricorrente p.R63H nel gene TNNT3. 110
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency 107
Sindrome di Ehlers-Danlos ipermobile/sindrome da ipermobilità articolare: clinica, assistenza e ricerca in Italia 96
Characterisation of a large duplication in the COL5A1 gene in a classic Ehlers-Danlos syndrome patient 95
Caratterizzazione di slc2a10, l’ortologo del gene umano responsabile della Sindrome delle Arterie Tortuose, in Danio rerio 93
Integrative Multi-Omics Approach in Vascular Ehlers–Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts 84
Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers–Danlos Syndrome: Focus on Vascular Prevention 80
In search of the SLC2A10 gene role in the etiopathogenesis of arterial tortuosity syndrome by transcriptomic and biochemical approaches 80
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center 80
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. 79
Classic Ehlers-Danlos sindrome: clinical and molecular characterization of 36 patients. 76
Identificazione e caratterizzazione dei geni hly e iap nei sierotipi di Listeria monocytogenes e comparazione con Listeria spp 73
Further delineation of Loeys-Dietz syndrome type IV in a family with mild vascular involvement and a TGFB2 splicing mutation 70
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 69
Sindrome di Ehlers-Danlos di tipo ipermobile: variabilità clinica in 50 pazienti italiani 68
GLUT10 facilitates dehydroascorbic acid uptake in the endoplasmic reticulum: lessons from arterial tortuosity syndrome 68
Ptosi viscerale generalizzata recidivante in una paziente con segni di connettivopatia ereditaria. 67
Characterization of two families with Arterial Tortuosity Syndrome with homozygosity for a novel and a recurrent missense mutations in SLC2A10 gene. 66
In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by gene expression analysis. 65
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa. 64
Molecular characterization and transcriptome-wide expression profiling of two patients with spondyloepimetaphyseal dysplasia with joint laxity type 1 64
In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by transcriptomic and biochemical approaches. XV 62
Cloning and expression of the facilitative glucose transporter GLUT10 in arterial tortuosity syndrome skin fibroblast rescue a control-like phenotype. 61
Diagnosi prenatale per sindrome delle arterie tortuose: identificazione di una nuova mutazione nel gene SLC2A10 in corso di gravidanza a rischio. 61
Studio del gene malattia SLC2A10 in zebrafish 59
Le sindromi di Ehlers-Danlos 59
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? 58
Clinical evaluation of 80 Ehlers-Danlos syndrome hypermobility type patients 57
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa. 56
L’importanza della consulenza genetica in una famiglia italiana affetta da sindrome di Loeys-Dietz con marcata variabilità clinica. 54
Identification and characterization of hly and iap genes in Listeria monocytogenes serotypes and comparison with Listeria spp 51
Exome sequencing allows for the rapid identification of two novel ATP6V0A2 mutations in an infant with cutis laxa. 51
Clinical and molecular characterization of a family with LDS type IV: identification of the first TGFB2 splice mutation. 51
Un caso paradigmatico di Sindrome di Marfan con una nuova mutazione nel gene FBN1. 50
Sindrome di LEOPARD: caratterizzazione di due famiglie italiane con mutazioni ricorrenti p.T468M/P nel gene PTPN11. 50
Proximity extension assay-based serum proteomic profiling identifies shared protein signatures in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders 5
Totale 13.137
Salva come PNG Salva come JPEG
Categoria #
all - tutte 50.706
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 50.706
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021403 0 0 0 0 0 0 0 0 0 180 121 102
2021/2022705 51 102 25 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
2025/20263.000 300 399 199 426 348 262 571 124 164 207 0 0
Totale 13.137