IRIS Institutional Research Information System - OPENBS Open Archive UniBS

CHIARELLI, Nicola
 Distribuzione geografica
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Continente #
NA - Nord America 5.722
EU - Europa 4.634
AS - Asia 2.612
SA - Sud America 477
Continente sconosciuto - Info sul continente non disponibili 263
AF - Africa 68
OC - Oceania 15
Totale 13.791
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Nazione #
US - Stati Uniti d'America 5.618
PL - Polonia 2.343
SG - Singapore 911
CN - Cina 842
IT - Italia 623
UA - Ucraina 449
BR - Brasile 376
HK - Hong Kong 266
DE - Germania 265
FR - Francia 238
VN - Vietnam 223
FI - Finlandia 217
GB - Regno Unito 181
TR - Turchia 89
IE - Irlanda 86
IN - India 80
RU - Federazione Russa 80
CA - Canada 60
BD - Bangladesh 45
ID - Indonesia 36
NL - Olanda 34
ES - Italia 25
AR - Argentina 23
BE - Belgio 23
MX - Messico 23
ZA - Sudafrica 23
AT - Austria 19
IQ - Iraq 18
EC - Ecuador 16
JP - Giappone 16
PK - Pakistan 16
SE - Svezia 16
VE - Venezuela 16
CL - Cile 15
AU - Australia 12
PH - Filippine 12
NG - Nigeria 11
CO - Colombia 10
SA - Arabia Saudita 10
MA - Marocco 9
AE - Emirati Arabi Uniti 7
BO - Bolivia 6
HN - Honduras 6
JM - Giamaica 6
PY - Paraguay 6
TN - Tunisia 6
CH - Svizzera 5
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
CR - Costa Rica 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
DZ - Algeria 2
EG - Egitto 2
ET - Etiopia 2
HU - Ungheria 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
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
Totale 13.532
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Città #
Warsaw 2.342
Ashburn 552
Singapore 496
Fairfield 477
Woodbridge 326
Jacksonville 319
San Jose 298
Hong Kong 263
Houston 245
Beijing 204
Brescia 202
Chandler 198
Wilmington 195
Cambridge 191
New York 183
Seattle 179
Ann Arbor 174
Helsinki 162
Princeton 160
Council Bluffs 156
The Dalles 147
Los Angeles 140
Dublin 87
Chicago 82
Dong Ket 77
Nanjing 77
Lauterbourg 73
Istanbul 68
Munich 68
Buffalo 56
Dearborn 56
Lancaster 54
Milan 46
Ho Chi Minh City 45
Des Moines 44
Jinan 43
Dallas 40
San Francisco 40
Rome 37
Moscow 35
Phoenix 33
Redondo Beach 33
Santa Clara 33
São Paulo 32
Jakarta 30
London 30
Shenyang 30
Salt Lake City 29
Columbus 27
Shanghai 27
Changsha 26
Hebei 25
Orem 24
San Diego 24
Tianjin 23
Turku 23
Hanoi 22
Brussels 21
Elk Grove Village 20
Nanchang 18
Toronto 18
Johannesburg 17
Tampa 17
Zhengzhou 17
Hangzhou 16
Nuremberg 15
Belo Horizonte 13
Boardman 13
Brooklyn 13
Montreal 13
Rio de Janeiro 13
Tokyo 13
Turin 13
Washington 13
Baghdad 12
Chennai 12
Jiaxing 12
Mexico City 12
Abuja 11
Atlanta 11
Denver 11
Fuzhou 11
Guangzhou 11
Porto Alegre 11
Vienna 11
Ningbo 10
Salerno 10
Taizhou 10
Falls Church 9
Miami 9
Boston 8
Da Nang 8
Dhaka 8
Haiphong 8
Manchester 8
Naples 8
Norwalk 8
Sterling 8
Albuquerque 7
Frankfurt am Main 7
Totale 9.622
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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 599
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 346
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 336
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 322
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 301
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 299
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 295
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 293
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 290
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 290
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 284
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. 279
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 271
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 261
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 256
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 254
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 250
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 244
Caveolin-1, Caveolin-2 and Cavin-1 are strong predictors of adipogenic differentiation in human tumors and cell lines of liposarcoma 231
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 231
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 228
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. 225
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 220
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 214
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. 207
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 207
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 204
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 201
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 197
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 196
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma 188
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 174
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 164
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 163
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 159
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 157
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 157
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 156
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 154
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 151
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. 147
Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers–Danlos Syndrome: Focus on Vascular Prevention 145
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 143
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 137
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 137
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. 132
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3. 130
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 126
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts 122
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA 122
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 121
Modulation of the facilitative glucose transporters (SLC2A) gene family expression in arterial tortuosity syndrome skin fibroblasts and aortic vascular smooth muscle cells. 118
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? 117
Caratterizzazione di una famiglia italiana affetta da artrogriposi distale di tipo 2B e mutazione ricorrente p.R63H nel gene TNNT3. 114
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency 111
Characterisation of a large duplication in the COL5A1 gene in a classic Ehlers-Danlos syndrome patient 102
Sindrome di Ehlers-Danlos ipermobile/sindrome da ipermobilità articolare: clinica, assistenza e ricerca in Italia 100
Integrative Multi-Omics Approach in Vascular Ehlers–Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts 97
Caratterizzazione di slc2a10, l’ortologo del gene umano responsabile della Sindrome delle Arterie Tortuose, in Danio rerio 95
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center 87
In search of the SLC2A10 gene role in the etiopathogenesis of arterial tortuosity syndrome by transcriptomic and biochemical approaches 83
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. 82
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 81
Classic Ehlers-Danlos sindrome: clinical and molecular characterization of 36 patients. 78
Identificazione e caratterizzazione dei geni hly e iap nei sierotipi di Listeria monocytogenes e comparazione con Listeria spp 76
Sindrome di Ehlers-Danlos di tipo ipermobile: variabilità clinica in 50 pazienti italiani 72
Further delineation of Loeys-Dietz syndrome type IV in a family with mild vascular involvement and a TGFB2 splicing mutation 72
GLUT10 facilitates dehydroascorbic acid uptake in the endoplasmic reticulum: lessons from arterial tortuosity syndrome 72
In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by gene expression analysis. 68
Ptosi viscerale generalizzata recidivante in una paziente con segni di connettivopatia ereditaria. 68
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa. 67
Characterization of two families with Arterial Tortuosity Syndrome with homozygosity for a novel and a recurrent missense mutations in SLC2A10 gene. 67
Molecular characterization and transcriptome-wide expression profiling of two patients with spondyloepimetaphyseal dysplasia with joint laxity type 1 66
In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by transcriptomic and biochemical approaches. XV 64
Cloning and expression of the facilitative glucose transporter GLUT10 in arterial tortuosity syndrome skin fibroblast rescue a control-like phenotype. 63
Diagnosi prenatale per sindrome delle arterie tortuose: identificazione di una nuova mutazione nel gene SLC2A10 in corso di gravidanza a rischio. 63
Le sindromi di Ehlers-Danlos 60
Studio del gene malattia SLC2A10 in zebrafish 59
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa. 59
Clinical evaluation of 80 Ehlers-Danlos syndrome hypermobility type patients 58
L’importanza della consulenza genetica in una famiglia italiana affetta da sindrome di Loeys-Dietz con marcata variabilità clinica. 57
Sindrome di LEOPARD: caratterizzazione di due famiglie italiane con mutazioni ricorrenti p.T468M/P nel gene PTPN11. 56
Clinical and molecular characterization of a family with LDS type IV: identification of the first TGFB2 splice mutation. 54
Exome sequencing allows for the rapid identification of two novel ATP6V0A2 mutations in an infant with cutis laxa. 53
Identification and characterization of hly and iap genes in Listeria monocytogenes serotypes and comparison with Listeria spp 52
Un caso paradigmatico di Sindrome di Marfan con una nuova mutazione nel gene FBN1. 52
Proximity extension assay-based serum proteomic profiling identifies shared protein signatures in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders 32
Totale 13.791
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Categoria #
all - tutte 56.025
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 56.025
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022654 0 102 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
2025/20263.267 300 399 199 426 348 262 571 124 164 280 136 58
2026/2027387 175 212 0 0 0 0 0 0 0 0 0 0
Totale 13.791