IRIS Institutional Research Information System - OPENBS Open Archive UniBS

COLOMBI, MARINA
 Distribuzione geografica
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Continente #
NA - Nord America 15.978
EU - Europa 11.607
AS - Asia 7.818
SA - Sud America 1.355
AF - Africa 178
OC - Oceania 74
Continente sconosciuto - Info sul continente non disponibili 14
AN - Antartide 1
Totale 37.025
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Nazione #
US - Stati Uniti d'America 15.731
PL - Polonia 5.332
CN - Cina 2.680
SG - Singapore 2.618
UA - Ucraina 1.408
IT - Italia 1.224
BR - Brasile 1.102
HK - Hong Kong 827
DE - Germania 807
FR - Francia 717
VN - Vietnam 594
GB - Regno Unito 584
FI - Finlandia 566
TR - Turchia 275
IE - Irlanda 256
RU - Federazione Russa 255
IN - India 229
CA - Canada 149
BD - Bangladesh 117
NL - Olanda 116
ID - Indonesia 94
AR - Argentina 81
BE - Belgio 71
MX - Messico 64
SE - Svezia 62
ZA - Sudafrica 62
AU - Australia 60
IQ - Iraq 57
AT - Austria 52
JP - Giappone 51
ES - Italia 48
SA - Arabia Saudita 42
PK - Pakistan 41
EC - Ecuador 36
VE - Venezuela 28
CL - Cile 26
CO - Colombia 26
KR - Corea 25
MA - Marocco 23
NG - Nigeria 22
AE - Emirati Arabi Uniti 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
CH - Svizzera 13
UY - Uruguay 13
EU - Europa 12
KE - Kenya 12
EG - Egitto 11
MU - Mauritius 11
NP - Nepal 11
BO - Bolivia 10
MY - Malesia 10
JM - Giamaica 9
KZ - Kazakistan 9
IL - Israele 8
IR - Iran 7
ET - Etiopia 6
LK - Sri Lanka 6
AL - Albania 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
BB - Barbados 4
BH - Bahrain 4
CG - Congo 4
DZ - Algeria 4
HN - Honduras 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
CR - Costa Rica 2
CY - Cipro 2
LA - Repubblica Popolare Democratica del Laos 2
MD - Moldavia 2
RO - Romania 2
SK - Slovacchia (Repubblica Slovacca) 2
SV - El Salvador 2
XK - ???statistics.table.value.countryCode.XK??? 2
BN - Brunei Darussalam 1
BT - Bhutan 1
BW - Botswana 1
Totale 37.003
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Città #
Warsaw 5.320
Fairfield 1.782
Ashburn 1.550
Singapore 1.455
Woodbridge 1.282
Jacksonville 1.027
Houston 937
Hong Kong 820
Seattle 705
Cambridge 699
Wilmington 650
San Jose 632
Beijing 601
The Dalles 501
Ann Arbor 499
Chandler 462
Princeton 462
New York 411
Helsinki 385
Brescia 375
Nanjing 324
Los Angeles 278
Dublin 256
Dearborn 219
Lauterbourg 217
Istanbul 206
Dong Ket 187
Council Bluffs 179
Lancaster 168
Munich 158
Ho Chi Minh City 131
Des Moines 130
Chicago 124
Buffalo 122
Jinan 109
Milan 102
Nanchang 100
Shenyang 99
São Paulo 97
Moscow 92
Dallas 90
San Diego 88
Hanoi 87
Shanghai 86
London 85
Redondo Beach 85
Changsha 81
Hebei 77
Tianjin 73
San Francisco 71
Jakarta 67
Santa Clara 64
Orem 63
Rome 60
St Louis 58
Phoenix 50
Hangzhou 48
Jiaxing 48
Zhengzhou 47
Toronto 46
Nuremberg 45
Boardman 44
Turku 44
Salt Lake City 42
Frankfurt am Main 41
Kunming 41
Tokyo 41
Brussels 40
Johannesburg 38
Montreal 38
Ningbo 36
Guangzhou 35
Rio de Janeiro 35
Belo Horizonte 32
Chennai 31
Verona 31
Boston 29
Brooklyn 28
Washington 28
Baghdad 27
Denver 26
Fuzhou 26
Vienna 25
Amsterdam 24
Lanzhou 24
Mexico City 24
Taizhou 24
Atlanta 23
Elk Grove Village 23
Manchester 23
Abuja 22
Waanrode 22
Dhaka 21
Haiphong 21
New Delhi 21
Porto Alegre 21
Poplar 20
Stockholm 20
Augusta 19
Norwalk 19
Totale 26.401
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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 593
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 416
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome 383
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 350
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome 348
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 334
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 332
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome 315
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 314
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 309
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 303
Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain 303
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 295
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 294
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 292
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 291
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 291
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) 291
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
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 286
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 284
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type 282
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
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 270
Linee guida. Diagnosi delle epidermolisi bollose ereditarie. 266
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 265
A cellular test for Ehlers-Danlos syndromes diagnosis. 262
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 261
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
Ehlers–Danlos syndrome, classical type 248
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes 246
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 240
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 236
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 235
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
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 229
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
Complications of acute stroke and the occurrence of early seizures. 219
Dystrophic epidermolysis bullosa pruriginosa in Italy: molecular characterization and pathogenesic aspects 217
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
Phosphocaveolin-1 enforces tumor growth and chemoresistance in rhabdomyosarcoma 217
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 216
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 213
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 206
Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients 201
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. 199
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 199
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 197
Arterial tortuosity in patients with spontaneous cervical artery dissection 195
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
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 184
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 183
Angiokeratoma Corporis Diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. 181
The type III-9 repeat of human fibronectin is encoded by a single exon which is not alternatively spliced. 181
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
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 179
Study of conformational properties of a biologically active peptide of Fibronectin by circular dichroism, NMR and molecular dynamics simulation 178
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 178
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations: A New Family and Review of the Literature 177
A frequent HaeIII RFLP of the human fibronectin gene 171
Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen 170
A common MspI RFLP of the human fibronectin gene (FN1) 169
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 166
COL6A5 variants in familial neuropathic chronic itch 164
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 163
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 163
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 162
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 161
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 161
Arterial tortuosity syndrome in two Italian paediatric patients. 159
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 158
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 158
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 157
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 157
RT-PCR detection of fibronectin EDA+ and EDB+ mRNA isoforms: molecular markers for hepatocellular carcinoma 156
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 154
A Taq RFLP for the human fibronectin (FN1) gene 153
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 153
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 153
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
L’integrina avb3 inibisce il potenziale invasivo e metastatico di cellule tumorali umane esprimenti stabilmente il peptide FN13, attraverso la disattivazione di ILK. 149
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. 149
Characterization of a 13 aminoacid human fibronectin peptide induce matrix assembly and inhibiting migration and invasion in tumor cells 148
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B 148
Chronic glutamate treatment selectively modulates AMPA RNA editing and ADAR expression and activity in primary cortical neurons 148
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 147
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 147
Totale 22.422
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Categoria #
all - tutte 154.413
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 154.413
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.133 0 0 0 0 0 0 0 0 0 445 392 296
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
2025/20268.662 853 1.147 632 1.241 919 762 1.593 390 549 576 0 0
Totale 37.709