IRIS Institutional Research Information System - OPENBS Open Archive UniBS

CHIARELLI, Nicola
 Distribuzione geografica
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Continente #
NA - Nord America 4.661
EU - Europa 4.360
AS - Asia 2.242
SA - Sud America 440
AF - Africa 33
OC - Oceania 13
Continente sconosciuto - Info sul continente non disponibili 6
Totale 11.755
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Nazione #
US - Stati Uniti d'America 4.591
PL - Polonia 2.339
CN - Cina 749
SG - Singapore 739
IT - Italia 542
UA - Ucraina 446
BR - Brasile 361
DE - Germania 259
HK - Hong Kong 250
VN - Vietnam 194
GB - Regno Unito 165
FI - Finlandia 157
FR - Francia 156
IE - Irlanda 86
TR - Turchia 83
RU - Federazione Russa 77
IN - India 69
CA - Canada 42
ID - Indonesia 36
BD - Bangladesh 29
NL - Olanda 28
BE - Belgio 23
ES - Italia 20
MX - Messico 20
AT - Austria 19
AR - Argentina 18
IQ - Iraq 15
SE - Svezia 15
ZA - Sudafrica 15
JP - Giappone 14
EC - Ecuador 13
PK - Pakistan 12
VE - Venezuela 12
AU - Australia 10
CL - Cile 10
SA - Arabia Saudita 10
CO - Colombia 8
AE - Emirati Arabi Uniti 6
BO - Bolivia 6
PH - Filippine 6
CZ - Repubblica Ceca 5
EU - Europa 5
PY - Paraguay 5
TW - Taiwan 5
MA - Marocco 4
MU - Mauritius 4
UY - Uruguay 4
BB - Barbados 3
JO - Giordania 3
LT - Lituania 3
NP - Nepal 3
NZ - Nuova Zelanda 3
PE - Perù 3
TN - Tunisia 3
BG - Bulgaria 2
CH - Svizzera 2
HU - Ungheria 2
IL - Israele 2
JM - Giamaica 2
KE - Kenya 2
LV - Lettonia 2
NO - Norvegia 2
PT - Portogallo 2
SY - Repubblica araba siriana 2
UZ - Uzbekistan 2
AL - Albania 1
AM - Armenia 1
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BY - Bielorussia 1
CG - Congo 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EG - Egitto 1
ET - Etiopia 1
GR - Grecia 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
KG - Kirghizistan 1
KR - Corea 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LK - Sri Lanka 1
MD - Moldavia 1
MY - Malesia 1
OM - Oman 1
PS - Palestinian Territory 1
RS - Serbia 1
SN - Senegal 1
TH - Thailandia 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 11.755
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Città #
Warsaw 2.338
Fairfield 476
Ashburn 454
Singapore 339
Woodbridge 326
Jacksonville 317
Hong Kong 247
Houston 242
Brescia 201
Chandler 198
Wilmington 195
Cambridge 191
Beijing 189
Seattle 177
Ann Arbor 174
New York 165
Princeton 160
Los Angeles 118
Helsinki 102
Dublin 86
Chicago 78
Dong Ket 77
Nanjing 77
Istanbul 68
Munich 68
The Dalles 59
Dearborn 56
Buffalo 54
Lancaster 54
Council Bluffs 45
Jinan 43
Des Moines 41
Ho Chi Minh City 37
Milan 36
Moscow 35
Redondo Beach 33
São Paulo 31
Jakarta 30
Shenyang 30
Salt Lake City 29
Changsha 26
Hebei 25
London 25
San Francisco 25
Rome 24
Phoenix 23
San Diego 23
Tianjin 23
Turku 23
Dallas 22
Shanghai 22
Brussels 21
Elk Grove Village 20
Nanchang 18
Toronto 18
Zhengzhou 17
Hanoi 16
Santa Clara 16
Nuremberg 15
Tampa 15
Rio de Janeiro 13
Washington 13
Belo Horizonte 12
Boardman 12
Hangzhou 12
Jiaxing 12
Johannesburg 12
Turin 12
Porto Alegre 11
Tokyo 11
Vienna 11
Baghdad 10
Brooklyn 10
Fuzhou 10
Guangzhou 10
Montreal 10
Ningbo 10
Orem 10
Salerno 10
Taizhou 10
Chennai 9
Falls Church 9
Mexico City 9
Dhaka 8
Miami 8
Norwalk 8
San Jose 8
Sterling 8
Albuquerque 7
Atlanta 7
Boston 7
Da Nang 7
Haiphong 7
Lanzhou 7
Lappeenranta 7
Verona 7
Haikou 6
Manchester 6
Napoli 6
Orange 6
Totale 8.461
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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 571
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 326
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 293
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 285
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 279
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 279
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 271
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 270
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 268
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 266
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 266
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. 262
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 249
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 246
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 235
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 223
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 223
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 219
Caveolin-1, Caveolin-2 and Cavin-1 are strong predictors of adipogenic differentiation in human tumors and cell lines of liposarcoma 214
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 206
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. 202
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 196
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 194
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. 186
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 177
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 176
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 176
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 175
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma 173
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 165
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 165
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 151
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 146
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 146
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 144
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 144
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 142
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 136
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 136
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 134
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 131
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. 130
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3. 116
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 115
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. 114
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 113
Modulation of the facilitative glucose transporters (SLC2A) gene family expression in arterial tortuosity syndrome skin fibroblasts and aortic vascular smooth muscle cells. 108
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 105
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA 104
Caratterizzazione di una famiglia italiana affetta da artrogriposi distale di tipo 2B e mutazione ricorrente p.R63H nel gene TNNT3. 98
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency 91
Sindrome di Ehlers-Danlos ipermobile/sindrome da ipermobilità articolare: clinica, assistenza e ricerca in Italia 90
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 82
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts 82
Characterisation of a large duplication in the COL5A1 gene in a classic Ehlers-Danlos syndrome patient 82
Caratterizzazione di slc2a10, l’ortologo del gene umano responsabile della Sindrome delle Arterie Tortuose, in Danio rerio 80
In search of the SLC2A10 gene role in the etiopathogenesis of arterial tortuosity syndrome by transcriptomic and biochemical approaches 76
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. 73
Integrative Multi-Omics Approach in Vascular Ehlers–Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts 68
Identificazione e caratterizzazione dei geni hly e iap nei sierotipi di Listeria monocytogenes e comparazione con Listeria spp 65
Classic Ehlers-Danlos sindrome: clinical and molecular characterization of 36 patients. 64
Ptosi viscerale generalizzata recidivante in una paziente con segni di connettivopatia ereditaria. 62
Further delineation of Loeys-Dietz syndrome type IV in a family with mild vascular involvement and a TGFB2 splicing mutation 62
Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers–Danlos Syndrome: Focus on Vascular Prevention 61
Characterization of two families with Arterial Tortuosity Syndrome with homozygosity for a novel and a recurrent missense mutations in SLC2A10 gene. 60
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa. 58
Diagnosi prenatale per sindrome delle arterie tortuose: identificazione di una nuova mutazione nel gene SLC2A10 in corso di gravidanza a rischio. 58
In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by gene expression analysis. 57
Studio del gene malattia SLC2A10 in zebrafish 56
Molecular characterization and transcriptome-wide expression profiling of two patients with spondyloepimetaphyseal dysplasia with joint laxity type 1 56
In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by transcriptomic and biochemical approaches. XV 55
Cloning and expression of the facilitative glucose transporter GLUT10 in arterial tortuosity syndrome skin fibroblast rescue a control-like phenotype. 55
GLUT10 facilitates dehydroascorbic acid uptake in the endoplasmic reticulum: lessons from arterial tortuosity syndrome 55
Le sindromi di Ehlers-Danlos 52
Clinical evaluation of 80 Ehlers-Danlos syndrome hypermobility type patients 51
L’importanza della consulenza genetica in una famiglia italiana affetta da sindrome di Loeys-Dietz con marcata variabilità clinica. 49
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 48
Sindrome di Ehlers-Danlos di tipo ipermobile: variabilità clinica in 50 pazienti italiani 48
Identification and characterization of hly and iap genes in Listeria monocytogenes serotypes and comparison with Listeria spp 48
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? 48
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa. 47
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center 46
Sindrome di LEOPARD: caratterizzazione di due famiglie italiane con mutazioni ricorrenti p.T468M/P nel gene PTPN11. 45
Exome sequencing allows for the rapid identification of two novel ATP6V0A2 mutations in an infant with cutis laxa. 45
Clinical and molecular characterization of a family with LDS type IV: identification of the first TGFB2 splice mutation. 45
Un caso paradigmatico di Sindrome di Marfan con una nuova mutazione nel gene FBN1. 41
Totale 12.010
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Categoria #
all - tutte 48.589
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 48.589
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021980 0 0 0 0 0 159 83 169 166 180 121 102
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
2025/20261.873 300 399 199 426 348 201 0 0 0 0 0 0
Totale 12.010