IRIS Institutional Research Information System - OPENBS Open Archive UniBS

COLOMBI, MARINA
 Distribuzione geografica
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Continente #
NA - Nord America 14.395
EU - Europa 10.989
AS - Asia 6.830
SA - Sud America 1.247
AF - Africa 115
OC - Oceania 46
Continente sconosciuto - Info sul continente non disponibili 13
AN - Antartide 1
Totale 33.636
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Nazione #
US - Stati Uniti d'America 14.178
PL - Polonia 5.325
CN - Cina 2.408
SG - Singapore 2.186
UA - Ucraina 1.401
IT - Italia 1.094
BR - Brasile 1.045
HK - Hong Kong 795
DE - Germania 780
GB - Regno Unito 556
VN - Vietnam 514
FR - Francia 478
FI - Finlandia 435
TR - Turchia 262
IE - Irlanda 256
RU - Federazione Russa 248
IN - India 195
CA - Canada 132
NL - Olanda 103
BD - Bangladesh 97
ID - Indonesia 83
BE - Belgio 71
AR - Argentina 70
SE - Svezia 58
MX - Messico 57
ZA - Sudafrica 51
AT - Austria 50
ES - Italia 44
IQ - Iraq 43
JP - Giappone 39
AU - Australia 32
PK - Pakistan 31
EC - Ecuador 29
SA - Arabia Saudita 28
KR - Corea 22
CZ - Repubblica Ceca 19
VE - Venezuela 19
CL - Cile 18
CO - Colombia 18
AE - Emirati Arabi Uniti 16
TW - Taiwan 16
JO - Giordania 15
PY - Paraguay 15
NZ - Nuova Zelanda 14
MA - Marocco 13
UZ - Uzbekistan 13
EU - Europa 12
LT - Lituania 12
PE - Perù 12
MU - Mauritius 11
PT - Portogallo 11
UY - Uruguay 11
BO - Bolivia 10
KE - Kenya 10
TN - Tunisia 9
EG - Egitto 8
CH - Svizzera 7
IR - Iran 7
JM - Giamaica 7
KZ - Kazakistan 7
NP - Nepal 7
PH - Filippine 7
IL - Israele 6
DK - Danimarca 5
LK - Sri Lanka 5
MY - Malesia 5
NO - Norvegia 5
AL - Albania 4
BA - Bosnia-Erzegovina 4
BB - Barbados 4
DO - Repubblica Dominicana 4
ET - Etiopia 4
HN - Honduras 4
HU - Ungheria 4
OM - Oman 4
AM - Armenia 3
CG - Congo 3
GR - Grecia 3
LB - Libano 3
LV - Lettonia 3
PA - Panama 3
AZ - Azerbaigian 2
BG - Bulgaria 2
CR - Costa Rica 2
DZ - Algeria 2
LA - Repubblica Popolare Democratica del Laos 2
RO - Romania 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
SY - Repubblica araba siriana 2
TH - Thailandia 2
BH - Bahrain 1
BY - Bielorussia 1
CD - Congo 1
CY - Cipro 1
EE - Estonia 1
GD - Grenada 1
GE - Georgia 1
GS - Georgia del Sud e Isole Sandwich Australi 1
GT - Guatemala 1
Totale 33.625
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Città #
Warsaw 5.316
Fairfield 1.782
Ashburn 1.301
Woodbridge 1.282
Singapore 1.050
Jacksonville 1.025
Houston 935
Hong Kong 788
Seattle 705
Cambridge 699
Wilmington 650
Beijing 583
Ann Arbor 499
Chandler 462
Princeton 462
New York 396
Brescia 373
Nanjing 324
Los Angeles 266
Dublin 256
Helsinki 254
Dearborn 219
Istanbul 204
Dong Ket 187
The Dalles 177
Lancaster 168
Munich 158
Des Moines 123
Buffalo 119
Chicago 117
Ho Chi Minh City 111
Jinan 108
Nanchang 100
Shenyang 99
Moscow 92
São Paulo 92
San Diego 88
Redondo Beach 85
Changsha 81
Dallas 81
Milan 81
Shanghai 81
London 80
Hebei 77
Hanoi 72
Tianjin 72
San Francisco 69
Council Bluffs 66
Jakarta 63
St Louis 58
Phoenix 49
Rome 49
Jiaxing 48
Santa Clara 47
Zhengzhou 47
Toronto 46
Turku 44
Boardman 42
Nuremberg 42
Salt Lake City 42
Hangzhou 41
Kunming 41
Brussels 40
Ningbo 36
Rio de Janeiro 35
Guangzhou 31
Johannesburg 31
Tokyo 31
Verona 31
Belo Horizonte 30
Boston 29
Washington 27
Brooklyn 26
Montreal 26
Orem 26
Fuzhou 25
Lanzhou 24
Taizhou 24
Vienna 24
Elk Grove Village 23
Frankfurt am Main 23
Atlanta 22
Chennai 22
Denver 22
Waanrode 22
Baghdad 20
Dhaka 20
Mexico City 20
Porto Alegre 20
Augusta 19
Manchester 19
Poplar 19
Tampa 19
Stockholm 18
Amsterdam 17
Haikou 17
Norwalk 17
San Mateo 17
Turin 17
Ankara 16
Totale 23.979
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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
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 355
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome 345
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 325
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 310
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome 298
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome 296
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 292
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) 287
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 283
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 282
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 282
Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain 282
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 281
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 278
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 277
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 273
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
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 270
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 269
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 267
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
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type 252
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 248
Linee guida. Diagnosi delle epidermolisi bollose ereditarie. 248
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 248
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 245
Ehlers–Danlos syndrome, classical type 242
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 242
A cellular test for Ehlers-Danlos syndromes diagnosis. 236
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 234
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes 233
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 222
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 220
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 219
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 217
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 216
Caveolin-1, Caveolin-2 and Cavin-1 are strong predictors of adipogenic differentiation in human tumors and cell lines of liposarcoma 213
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 206
Phosphocaveolin-1 enforces tumor growth and chemoresistance in rhabdomyosarcoma 203
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
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 201
Dystrophic epidermolysis bullosa pruriginosa in Italy: molecular characterization and pathogenesic aspects 196
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 195
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 194
Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients 193
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 192
Complications of acute stroke and the occurrence of early seizures. 192
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. 185
Arterial tortuosity in patients with spontaneous cervical artery dissection 178
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
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 176
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 175
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 174
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 174
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma 172
Study of conformational properties of a biologically active peptide of Fibronectin by circular dichroism, NMR and molecular dynamics simulation 171
Angiokeratoma Corporis Diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. 168
The type III-9 repeat of human fibronectin is encoded by a single exon which is not alternatively spliced. 168
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
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 165
Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen 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 164
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 163
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations: A New Family and Review of the Literature 162
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 156
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 155
A frequent HaeIII RFLP of the human fibronectin gene 152
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 151
COL6A5 variants in familial neuropathic chronic itch 151
A common MspI RFLP of the human fibronectin gene (FN1) 150
RT-PCR detection of fibronectin EDA+ and EDB+ mRNA isoforms: molecular markers for hepatocellular carcinoma 148
Arterial tortuosity syndrome in two Italian paediatric patients. 148
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 148
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 148
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 147
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 145
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 145
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 144
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 144
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 143
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 143
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B 142
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. 141
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 141
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 141
Chronic glutamate treatment selectively modulates AMPA RNA editing and ADAR expression and activity in primary cortical neurons 139
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 138
Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa. 137
Plasminogen activator activity of human plasma and transformed cells conditioned media: dependence on divalent cations. 137
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 137
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. 136
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. 135
L’integrina avb3 inibisce il potenziale invasivo e metastatico di cellule tumorali umane esprimenti stabilmente il peptide FN13, attraverso la disattivazione di ILK. 133
Totale 20.711
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Categoria #
all - tutte 147.822
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 147.822
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20212.874 0 0 0 0 0 477 258 490 516 445 392 296
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
2025/20265.270 853 1.147 632 1.241 919 478 0 0 0 0 0 0
Totale 34.317