IRIS Institutional Research Information System - OPENBS Open Archive UniBS

COLOMBI, MARINA
 Distribuzione geografica
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Continente #
NA - Nord America 16.536
EU - Europa 11.706
AS - Asia 7.933
SA - Sud America 1.355
AF - Africa 179
OC - Oceania 74
Continente sconosciuto - Info sul continente non disponibili 14
AN - Antartide 1
Totale 37.798
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Nazione #
US - Stati Uniti d'America 16.249
PL - Polonia 5.332
CN - Cina 2.718
SG - Singapore 2.650
UA - Ucraina 1.408
IT - Italia 1.300
BR - Brasile 1.102
HK - Hong Kong 831
DE - Germania 813
FR - Francia 717
VN - Vietnam 594
GB - Regno Unito 589
FI - Finlandia 566
TR - Turchia 275
IE - Irlanda 256
RU - Federazione Russa 255
IN - India 230
CA - Canada 172
BD - Bangladesh 152
NL - Olanda 120
ID - Indonesia 94
AR - Argentina 81
BE - Belgio 71
MX - Messico 67
ZA - Sudafrica 63
SE - Svezia 62
AU - Australia 60
IQ - Iraq 57
JP - Giappone 53
AT - Austria 52
ES - Italia 50
PK - Pakistan 42
SA - Arabia Saudita 42
EC - Ecuador 36
VE - Venezuela 28
CL - Cile 26
CO - Colombia 26
KR - Corea 26
MA - Marocco 23
NG - Nigeria 22
AE - Emirati Arabi Uniti 19
CH - Svizzera 19
CZ - Repubblica Ceca 19
PY - Paraguay 18
TW - Taiwan 17
JO - Giordania 16
LT - Lituania 15
PE - Perù 15
PH - Filippine 15
PT - Portogallo 15
NZ - Nuova Zelanda 14
TN - Tunisia 14
UZ - Uzbekistan 14
UY - Uruguay 13
EU - Europa 12
JM - Giamaica 12
KE - Kenya 12
NP - Nepal 12
EG - Egitto 11
MU - Mauritius 11
BO - Bolivia 10
MY - Malesia 10
KZ - Kazakistan 9
IL - Israele 8
CR - Costa Rica 7
IR - Iran 7
ET - Etiopia 6
HN - Honduras 6
LK - Sri Lanka 6
AL - Albania 5
BB - Barbados 5
DK - Danimarca 5
DO - Repubblica Dominicana 5
HU - Ungheria 5
NO - Norvegia 5
OM - Oman 5
PA - Panama 5
AM - Armenia 4
BA - Bosnia-Erzegovina 4
BH - Bahrain 4
CG - Congo 4
DZ - Algeria 4
AZ - Azerbaigian 3
BG - Bulgaria 3
GR - Grecia 3
LB - Libano 3
LV - Lettonia 3
SN - Senegal 3
SY - Repubblica araba siriana 3
TH - Thailandia 3
CY - Cipro 2
GT - Guatemala 2
LA - Repubblica Popolare Democratica del Laos 2
MD - Moldavia 2
RO - Romania 2
SK - Slovacchia (Repubblica Slovacca) 2
SV - El Salvador 2
TT - Trinidad e Tobago 2
XK - ???statistics.table.value.countryCode.XK??? 2
BN - Brunei Darussalam 1
Totale 37.775
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Città #
Warsaw 5.320
Fairfield 1.783
Ashburn 1.581
Singapore 1.462
Woodbridge 1.282
Jacksonville 1.030
Houston 939
Hong Kong 824
San Jose 778
Seattle 705
Cambridge 699
Wilmington 650
Beijing 606
The Dalles 501
Ann Arbor 499
Chandler 462
Princeton 462
New York 435
Helsinki 385
Brescia 376
Nanjing 324
Los Angeles 288
Dublin 256
Dearborn 220
Lauterbourg 217
Istanbul 206
Council Bluffs 188
Dong Ket 187
Lancaster 168
Munich 158
Ho Chi Minh City 131
Des Moines 130
Chicago 126
Buffalo 123
Jinan 109
Milan 107
Dallas 103
Nanchang 100
Shenyang 99
São Paulo 97
Moscow 92
San Diego 89
Hanoi 87
London 86
Shanghai 86
Redondo Beach 85
Changsha 81
Hebei 77
Santa Clara 77
San Francisco 75
Tianjin 73
Jakarta 67
Orem 67
Rome 62
St Louis 59
Phoenix 57
Toronto 50
Hangzhou 48
Jiaxing 48
Zhengzhou 47
Frankfurt am Main 45
Nuremberg 45
Boardman 44
Turku 44
Tokyo 43
Montreal 42
Salt Lake City 42
Kunming 41
Brussels 40
Johannesburg 38
Guangzhou 36
Ningbo 36
Rio de Janeiro 35
Belo Horizonte 32
Boston 32
Brooklyn 31
Chennai 31
Denver 31
Verona 31
Washington 28
Baghdad 27
Mexico City 27
Bologna 26
Fuzhou 26
Atlanta 25
Vienna 25
Amsterdam 24
Lanzhou 24
Taizhou 24
Elk Grove Village 23
Manchester 23
Abuja 22
Waanrode 22
Dhaka 21
Haiphong 21
New Delhi 21
Porto Alegre 21
Augusta 20
Poplar 20
Stockholm 20
Totale 26.738
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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 596
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 422
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome 397
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports 359
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome 353
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 338
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 336
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome 322
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 320
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 317
Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain 307
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 304
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 298
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 298
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 298
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) 296
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 294
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 293
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 289
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 289
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 288
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 285
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 285
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type 284
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 283
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. 278
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 274
Linee guida. Diagnosi delle epidermolisi bollose ereditarie. 271
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 268
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 264
A cellular test for Ehlers-Danlos syndromes diagnosis. 263
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 258
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 252
Ehlers–Danlos syndrome, classical type 249
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes 248
Type V and type III collagen modulate the expression and assembly of fibronectin extracellar matrix in classic and vascular Ehlers-Danlos syndrome fibroblasts, affecting cell survival and migration 240
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 240
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 238
Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review 238
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 234
Caveolin-1, Caveolin-2 and Cavin-1 are strong predictors of adipogenic differentiation in human tumors and cell lines of liposarcoma 230
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 227
Dystrophic epidermolysis bullosa pruriginosa in Italy: molecular characterization and pathogenesic aspects 221
Complications of acute stroke and the occurrence of early seizures. 220
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. 220
Phosphocaveolin-1 enforces tumor growth and chemoresistance in rhabdomyosarcoma 220
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 220
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 219
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 209
Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients 206
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 205
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 205
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 203
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. 202
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 197
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 197
Arterial tortuosity in patients with spontaneous cervical artery dissection 196
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 194
Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia 187
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 187
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 187
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma 185
Angiokeratoma Corporis Diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. 183
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 183
The type III-9 repeat of human fibronectin is encoded by a single exon which is not alternatively spliced. 182
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations: A New Family and Review of the Literature 182
Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts 181
Study of conformational properties of a biologically active peptide of Fibronectin by circular dichroism, NMR and molecular dynamics simulation 178
A frequent HaeIII RFLP of the human fibronectin gene 175
A Taq RFLP for the human fibronectin (FN1) gene 172
COL6A5 variants in familial neuropathic chronic itch 172
Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen 171
A common MspI RFLP of the human fibronectin gene (FN1) 170
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 167
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 165
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 164
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 164
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 163
A -96C-T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolys bullosa 162
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 161
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 161
L’integrina avb3 inibisce il potenziale invasivo e metastatico di cellule tumorali umane esprimenti stabilmente il peptide FN13, attraverso la disattivazione di ILK. 160
Arterial tortuosity syndrome in two Italian paediatric patients. 160
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 160
Despite celiprolol therapy, patients with vascular Ehlers–Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center 159
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 159
RT-PCR detection of fibronectin EDA+ and EDB+ mRNA isoforms: molecular markers for hepatocellular carcinoma 158
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 158
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 156
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 156
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 156
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 155
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 155
Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing 154
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorder 152
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 152
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. 151
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B 151
Characterization of a 13 aminoacid human fibronectin peptide induce matrix assembly and inhibiting migration and invasion in tumor cells 150
Totale 22.813
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Categoria #
all - tutte 162.581
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 162.581
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021296 0 0 0 0 0 0 0 0 0 0 0 296
2021/20222.043 123 380 54 86 39 111 101 149 113 240 179 468
2022/20231.542 273 17 38 104 122 434 23 139 205 21 72 94
2023/20242.074 132 43 138 177 124 418 92 66 440 93 57 294
2024/20254.624 50 24 60 641 436 375 423 132 477 274 1.144 588
2025/20269.435 853 1.147 632 1.241 919 762 1.593 390 549 804 399 146
Totale 38.482