IRIS Institutional Research Information System - OPENBS Open Archive UniBS

CHIARELLI, Nicola
 Distribuzione geografica
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Continente #
EU - Europa 3.852
NA - Nord America 3.466
AS - Asia 716
OC - Oceania 10
SA - Sud America 9
Continente sconosciuto - Info sul continente non disponibili 5
AF - Africa 3
Totale 8.061
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Nazione #
US - Stati Uniti d'America 3.447
PL - Polonia 2.327
CN - Cina 454
UA - Ucraina 431
IT - Italia 422
DE - Germania 167
FR - Francia 151
HK - Hong Kong 139
FI - Finlandia 111
GB - Regno Unito 109
IE - Irlanda 82
VN - Vietnam 77
IN - India 26
BE - Belgio 19
CA - Canada 19
AU - Australia 10
NL - Olanda 10
SE - Svezia 10
ES - Italia 6
TR - Turchia 6
EU - Europa 5
CL - Cile 4
EC - Ecuador 3
JP - Giappone 3
MU - Mauritius 3
AT - Austria 2
BR - Brasile 2
PH - Filippine 2
RU - Federazione Russa 2
AM - Armenia 1
BH - Bahrain 1
BY - Bielorussia 1
CH - Svizzera 1
HR - Croazia 1
IL - Israele 1
JO - Giordania 1
LA - Repubblica Popolare Democratica del Laos 1
PK - Pakistan 1
SG - Singapore 1
TH - Thailandia 1
TW - Taiwan 1
Totale 8.061
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Città #
Warsaw 2.326
Fairfield 476
Woodbridge 325
Jacksonville 317
Ashburn 306
Houston 235
Chandler 198
Wilmington 193
Cambridge 191
Brescia 185
Ann Arbor 174
Seattle 172
Princeton 160
Hong Kong 136
New York 121
Beijing 100
Helsinki 84
Dublin 82
Dong Ket 77
Nanjing 77
Dearborn 56
Lancaster 53
Jinan 42
Des Moines 38
Shenyang 28
Hebei 25
Los Angeles 24
San Diego 23
Changsha 21
Milan 21
Brussels 17
Nanchang 17
Rome 17
Tianjin 16
Zhengzhou 15
Shanghai 14
Toronto 14
Phoenix 13
Jiaxing 12
Washington 11
Fuzhou 10
Hangzhou 10
Ningbo 10
Salerno 10
Boardman 9
Falls Church 9
London 9
Guangzhou 8
Norwalk 8
San Francisco 8
Taizhou 8
Lanzhou 7
Verona 7
Haikou 6
Napoli 6
Orange 6
Kunming 5
Calvisano 4
Cutrofiano 4
Talcahuano 4
Tappahannock 4
Turin 4
Canberra 3
Cuenca 3
Falkenstein 3
Gunzenhausen 3
Kocaeli 3
Lappeenranta 3
Padova 3
Parma 3
Redwood City 3
Seveso 3
Taiyuan 3
Amsterdam 2
Auburn 2
Binasco 2
Bologna 2
Buffalo 2
Castenedolo 2
Central 2
Dudley 2
Gragnano Trebbiense 2
Indiana 2
Jesolo 2
Kilburn 2
Leawood 2
Lecce 2
Livorno 2
Madrid 2
Malonno 2
Manduria 2
Melbourne 2
Mele 2
Monastier di Treviso 2
Nichelino 2
Paris 2
Piombino 2
Pune 2
Redmond 2
Roncadelle 2
Totale 6.655
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Nome #
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 298
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 275
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 253
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 246
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 245
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 240
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 239
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 238
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 226
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. 216
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 215
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 207
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 203
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 193
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 187
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 185
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 179
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 170
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 160
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 155
Caveolin-1, Caveolin-2 and Cavin-1 are strong predictors of adipogenic differentiation in human tumors and cell lines of liposarcoma 153
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 147
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. 146
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 139
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 136
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. 134
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma 131
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 131
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 126
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 122
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 119
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 119
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 117
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 110
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. 108
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 101
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 99
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 93
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 88
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 86
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 81
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 75
Modulation of the facilitative glucose transporters (SLC2A) gene family expression in arterial tortuosity syndrome skin fibroblasts and aortic vascular smooth muscle cells. 69
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 66
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 62
Sindrome di Ehlers-Danlos ipermobile/sindrome da ipermobilità articolare: clinica, assistenza e ricerca in Italia 61
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3. 61
Caratterizzazione di una famiglia italiana affetta da artrogriposi distale di tipo 2B e mutazione ricorrente p.R63H nel gene TNNT3. 60
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 57
In search of the SLC2A10 gene role in the etiopathogenesis of arterial tortuosity syndrome by transcriptomic and biochemical approaches 54
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. 51
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA 49
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency 47
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. 44
Characterisation of a large duplication in the COL5A1 gene in a classic Ehlers-Danlos syndrome patient 42
Caratterizzazione di slc2a10, l’ortologo del gene umano responsabile della Sindrome delle Arterie Tortuose, in Danio rerio 41
Identificazione e caratterizzazione dei geni hly e iap nei sierotipi di Listeria monocytogenes e comparazione con Listeria spp 40
Classic Ehlers-Danlos sindrome: clinical and molecular characterization of 36 patients. 37
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa. 34
Ptosi viscerale generalizzata recidivante in una paziente con segni di connettivopatia ereditaria. 34
Characterization of two families with Arterial Tortuosity Syndrome with homozygosity for a novel and a recurrent missense mutations in SLC2A10 gene. 31
Diagnosi prenatale per sindrome delle arterie tortuose: identificazione di una nuova mutazione nel gene SLC2A10 in corso di gravidanza a rischio. 31
Studio del gene malattia SLC2A10 in zebrafish 28
GLUT10 facilitates dehydroascorbic acid uptake in the endoplasmic reticulum: lessons from arterial tortuosity syndrome 28
Sindrome di Ehlers-Danlos di tipo ipermobile: variabilità clinica in 50 pazienti italiani 26
L’importanza della consulenza genetica in una famiglia italiana affetta da sindrome di Loeys-Dietz con marcata variabilità clinica. 25
Cloning and expression of the facilitative glucose transporter GLUT10 in arterial tortuosity syndrome skin fibroblast rescue a control-like phenotype. 25
Further delineation of Loeys-Dietz syndrome type IV in a family with mild vascular involvement and a TGFB2 splicing mutation 25
Molecular characterization and transcriptome-wide expression profiling of two patients with spondyloepimetaphyseal dysplasia with joint laxity type 1 24
In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by transcriptomic and biochemical approaches. XV 23
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa. 23
Exome sequencing allows for the rapid identification of two novel ATP6V0A2 mutations in an infant with cutis laxa. 23
Clinical and molecular characterization of a family with LDS type IV: identification of the first TGFB2 splice mutation. 23
Clinical evaluation of 80 Ehlers-Danlos syndrome hypermobility type patients 22
In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by gene expression analysis. 21
Sindrome di LEOPARD: caratterizzazione di due famiglie italiane con mutazioni ricorrenti p.T468M/P nel gene PTPN11. 21
Identification and characterization of hly and iap genes in Listeria monocytogenes serotypes and comparison with Listeria spp 20
Le sindromi di Ehlers-Danlos 19
Un caso paradigmatico di Sindrome di Marfan con una nuova mutazione nel gene FBN1. 19
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? 18
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 13
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts 10
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center 8
Totale 8.306
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Categoria #
all - tutte 27.614
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 27.614
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019463 0 0 0 0 0 0 0 0 0 134 161 168
2019/20202.423 213 137 134 170 185 252 199 242 211 399 133 148
2020/20211.593 62 150 99 205 97 159 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
2023/2024653 60 18 49 69 53 186 24 18 143 33 0 0
Totale 8.306