IRIS Institutional Research Information System - OPENBS Open Archive UniBS

COLOMBI, MARINA
 Distribuzione geografica
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Continente #
NA - Nord America 19.968
EU - Europa 12.051
AS - Asia 8.102
SA - Sud America 1.402
Continente sconosciuto - Info sul continente non disponibili 699
AF - Africa 184
OC - Oceania 78
AN - Antartide 1
Totale 42.485
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Nazione #
US - Stati Uniti d'America 19.495
PL - Polonia 5.338
CN - Cina 2.746
SG - Singapore 2.684
IT - Italia 1.501
UA - Ucraina 1.408
BR - Brasile 1.129
HK - Hong Kong 851
DE - Germania 816
FR - Francia 723
GB - Regno Unito 663
VN - Vietnam 600
FI - Finlandia 566
TR - Turchia 276
CA - Canada 274
RU - Federazione Russa 260
IE - Irlanda 257
IN - India 237
BD - Bangladesh 181
NL - Olanda 128
ID - Indonesia 100
AR - Argentina 83
MX - Messico 73
BE - Belgio 71
SE - Svezia 69
AU - Australia 64
JP - Giappone 64
ZA - Sudafrica 64
ES - Italia 60
IQ - Iraq 57
AT - Austria 52
PK - Pakistan 49
SA - Arabia Saudita 43
EC - Ecuador 41
CO - Colombia 32
VE - Venezuela 30
CL - Cile 28
KR - Corea 27
JM - Giamaica 26
LT - Lituania 25
CR - Costa Rica 24
MA - Marocco 24
PH - Filippine 23
CH - Svizzera 22
NG - Nigeria 22
HN - Honduras 20
AE - Emirati Arabi Uniti 19
CZ - Repubblica Ceca 19
PY - Paraguay 18
TW - Taiwan 17
JO - Giordania 16
PE - Perù 16
PT - Portogallo 15
NZ - Nuova Zelanda 14
TN - Tunisia 14
UY - Uruguay 14
UZ - Uzbekistan 14
NP - Nepal 13
EU - Europa 12
KE - Kenya 12
BO - Bolivia 11
EG - Egitto 11
IL - Israele 11
MU - Mauritius 11
KZ - Kazakistan 10
MY - Malesia 10
BB - Barbados 9
GT - Guatemala 8
IR - Iran 7
DK - Danimarca 6
DO - Repubblica Dominicana 6
EE - Estonia 6
ET - Etiopia 6
HU - Ungheria 6
LK - Sri Lanka 6
TT - Trinidad e Tobago 6
AL - Albania 5
GR - Grecia 5
LB - Libano 5
NO - Norvegia 5
OM - Oman 5
PA - Panama 5
SV - El Salvador 5
TH - Thailandia 5
AM - Armenia 4
BA - Bosnia-Erzegovina 4
BG - Bulgaria 4
BH - Bahrain 4
CG - Congo 4
DZ - Algeria 4
AZ - Azerbaigian 3
GD - Grenada 3
LV - Lettonia 3
NI - Nicaragua 3
PR - Porto Rico 3
SC - Seychelles 3
SN - Senegal 3
SY - Repubblica araba siriana 3
CY - Cipro 2
HR - Croazia 2
Totale 41.761
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Città #
Warsaw 5.327
Ashburn 1.959
Fairfield 1.784
Singapore 1.485
Woodbridge 1.282
San Jose 1.084
Jacksonville 1.035
Houston 955
Hong Kong 844
Seattle 714
Cambridge 699
Wilmington 652
Beijing 620
Council Bluffs 540
The Dalles 522
New York 500
Ann Arbor 499
Princeton 467
Chandler 462
Helsinki 385
Brescia 384
Los Angeles 359
Nanjing 324
Dublin 260
Dearborn 220
Lauterbourg 217
Istanbul 206
Dallas 201
Dong Ket 187
Lancaster 169
Chicago 159
Munich 158
Columbus 150
Santa Clara 138
Ho Chi Minh City 133
Des Moines 131
Buffalo 130
Milan 129
San Francisco 123
San Diego 112
Jinan 109
São Paulo 108
Nanchang 100
London 99
Shenyang 99
Moscow 92
Hanoi 89
Shanghai 89
Orem 87
Phoenix 87
Rome 86
Redondo Beach 85
Changsha 81
Hebei 77
Tianjin 73
Toronto 69
Jakarta 68
North Bergen 67
St Louis 61
Denver 59
Atlanta 58
Montreal 58
Tokyo 54
Boardman 52
Boston 50
Brooklyn 50
Hangzhou 48
Jiaxing 48
Zhengzhou 47
Nuremberg 46
Frankfurt am Main 45
Turku 44
Salt Lake City 43
Kunming 41
Brussels 40
Johannesburg 39
Chennai 38
Rio de Janeiro 37
Guangzhou 36
Ningbo 36
Washington 34
Belo Horizonte 32
North Charleston 32
Verona 32
Bologna 30
Manchester 30
Mexico City 28
Naples 28
Baghdad 27
Stockholm 27
Fuzhou 26
Miami 26
Vienna 25
Amsterdam 24
Elk Grove Village 24
Lanzhou 24
Taizhou 24
Tampa 24
Abuja 22
Dhaka 22
Totale 28.841
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Nome #
The 2017 international classification of the Ehlers–Danlos syndromes 656
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 606
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 463
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome 439
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 434
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome 384
Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder 379
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 354
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 347
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 347
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome 340
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 339
Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain 320
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 316
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 313
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 310
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 308
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type 306
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) 305
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 303
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 302
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 301
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 299
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 299
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 299
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 296
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 289
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. 288
Linee guida. Diagnosi delle epidermolisi bollose ereditarie. 285
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 283
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 280
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 276
A cellular test for Ehlers-Danlos syndromes diagnosis. 274
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 274
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 262
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 262
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 261
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes 260
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 259
Ehlers–Danlos syndrome, classical type 255
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 255
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 247
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 246
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 241
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 241
Caveolin-1, Caveolin-2 and Cavin-1 are strong predictors of adipogenic differentiation in human tumors and cell lines of liposarcoma 235
Dystrophic epidermolysis bullosa pruriginosa in Italy: molecular characterization and pathogenesic aspects 234
Complications of acute stroke and the occurrence of early seizures. 232
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 232
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. 229
Phosphocaveolin-1 enforces tumor growth and chemoresistance in rhabdomyosarcoma 228
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 227
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 222
COL6A5 variants in familial neuropathic chronic itch 216
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 214
Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients 214
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 214
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 214
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. 213
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 212
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 211
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 210
Arterial tortuosity in patients with spontaneous cervical artery dissection 202
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 201
Despite celiprolol therapy, patients with vascular Ehlers–Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center 200
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 199
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma 197
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 197
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 195
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations: A New Family and Review of the Literature 195
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 193
A Taq RFLP for the human fibronectin (FN1) gene 193
The type III-9 repeat of human fibronectin is encoded by a single exon which is not alternatively spliced. 191
Angiokeratoma Corporis Diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. 188
Study of conformational properties of a biologically active peptide of Fibronectin by circular dichroism, NMR and molecular dynamics simulation 187
A frequent HaeIII RFLP of the human fibronectin gene 186
L’integrina avb3 inibisce il potenziale invasivo e metastatico di cellule tumorali umane esprimenti stabilmente il peptide FN13, attraverso la disattivazione di ILK. 184
A common MspI RFLP of the human fibronectin gene (FN1) 182
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 182
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 180
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 178
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 176
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 176
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 175
Arterial tortuosity syndrome in two Italian paediatric patients. 174
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A>G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy 174
Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen 174
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 173
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 173
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 172
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 170
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 170
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 169
RT-PCR detection of fibronectin EDA+ and EDB+ mRNA isoforms: molecular markers for hepatocellular carcinoma 168
Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers–Danlos Syndrome: Focus on Vascular Prevention 165
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 164
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. 162
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 162
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 161
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 161
Totale 25.009
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Categoria #
all - tutte 179.216
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 179.216
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.486 0 0 0 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
2025/20269.465 853 1.147 632 1.241 919 762 1.593 390 549 804 399 176
2026/20273.973 952 789 934 1.298 0 0 0 0 0 0 0 0
Totale 42.485