IRIS Institutional Research Information System - OPENBS Open Archive UniBS

COLOMBI, MARINA
 Distribuzione geografica
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Continente #
NA - Nord America 17.774
EU - Europa 11.819
AS - Asia 8.036
SA - Sud America 1.360
Continente sconosciuto - Info sul continente non disponibili 698
AF - Africa 179
OC - Oceania 75
AN - Antartide 1
Totale 39.942
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Nazione #
US - Stati Uniti d'America 17.436
PL - Polonia 5.338
CN - Cina 2.738
SG - Singapore 2.674
UA - Ucraina 1.408
IT - Italia 1.353
BR - Brasile 1.105
HK - Hong Kong 844
DE - Germania 813
FR - Francia 721
GB - Regno Unito 617
VN - Vietnam 594
FI - Finlandia 566
TR - Turchia 275
IE - Irlanda 256
RU - Federazione Russa 255
IN - India 237
CA - Canada 201
BD - Bangladesh 177
NL - Olanda 125
ID - Indonesia 95
AR - Argentina 81
BE - Belgio 71
MX - Messico 69
SE - Svezia 69
JP - Giappone 64
ZA - Sudafrica 63
AU - Australia 61
ES - Italia 59
IQ - Iraq 57
AT - Austria 52
PK - Pakistan 42
SA - Arabia Saudita 42
EC - Ecuador 36
VE - Venezuela 28
CL - Cile 27
CO - Colombia 27
KR - Corea 26
MA - Marocco 23
NG - Nigeria 22
JM - Giamaica 20
AE - Emirati Arabi Uniti 19
CH - Svizzera 19
CZ - Repubblica Ceca 19
PY - Paraguay 18
PH - Filippine 17
TW - Taiwan 17
JO - Giordania 16
LT - Lituania 15
PE - Perù 15
PT - Portogallo 15
NZ - Nuova Zelanda 14
TN - Tunisia 14
UZ - Uzbekistan 14
UY - Uruguay 13
EU - Europa 12
KE - Kenya 12
NP - Nepal 12
EG - Egitto 11
MU - Mauritius 11
BO - Bolivia 10
CR - Costa Rica 10
HN - Honduras 10
MY - Malesia 10
KZ - Kazakistan 9
IL - Israele 8
IR - Iran 7
ET - Etiopia 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
BG - Bulgaria 4
BH - Bahrain 4
CG - Congo 4
DZ - Algeria 4
GT - Guatemala 4
AZ - Azerbaigian 3
GR - Grecia 3
LB - Libano 3
LV - Lettonia 3
SN - Senegal 3
SY - Repubblica araba siriana 3
TH - Thailandia 3
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
TT - Trinidad e Tobago 2
XK - ???statistics.table.value.countryCode.XK??? 2
BN - Brunei Darussalam 1
Totale 39.232
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Città #
Warsaw 5.326
Fairfield 1.784
Ashburn 1.718
Singapore 1.480
Woodbridge 1.282
Jacksonville 1.031
Houston 950
Hong Kong 837
San Jose 810
Seattle 712
Cambridge 699
Wilmington 650
Beijing 616
The Dalles 517
Ann Arbor 499
New York 470
Chandler 462
Princeton 462
Helsinki 385
Brescia 376
Los Angeles 329
Nanjing 324
Dublin 257
Dearborn 220
Lauterbourg 217
Istanbul 206
Council Bluffs 199
Dong Ket 187
Dallas 173
Lancaster 168
Munich 158
Columbus 142
Chicago 141
Des Moines 131
Ho Chi Minh City 131
Buffalo 126
Milan 119
San Francisco 111
Jinan 109
Santa Clara 105
Nanchang 100
Shenyang 99
São Paulo 98
London 93
Moscow 92
San Diego 90
Shanghai 89
Hanoi 87
Orem 85
Redondo Beach 85
Changsha 81
Hebei 77
Rome 73
Tianjin 73
Phoenix 69
Jakarta 67
St Louis 59
Toronto 55
Tokyo 54
Montreal 51
Hangzhou 48
Jiaxing 48
Zhengzhou 47
Denver 46
Frankfurt am Main 45
Nuremberg 45
Boardman 44
Boston 44
Turku 44
Brooklyn 43
Atlanta 42
Salt Lake City 42
Kunming 41
Brussels 40
Chennai 38
Johannesburg 38
Guangzhou 36
Ningbo 36
Rio de Janeiro 36
Belo Horizonte 32
Verona 31
Manchester 29
Washington 29
Mexico City 28
Baghdad 27
Bologna 27
Stockholm 27
Fuzhou 26
Vienna 25
Amsterdam 24
Lanzhou 24
Taizhou 24
Elk Grove Village 23
Abuja 22
Paris 22
Tampa 22
Waanrode 22
Dhaka 21
Haiphong 21
New Delhi 21
Totale 27.526
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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 598
The 2017 international classification of the Ehlers–Danlos syndromes 500
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 438
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome 405
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 394
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome 362
Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder 351
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 345
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 338
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 336
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome 324
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 321
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. 306
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 302
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 301
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
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 295
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 295
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 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 290
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. 287
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type 287
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 287
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 284
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. 279
Linee guida. Diagnosi delle epidermolisi bollose ereditarie. 278
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 274
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 271
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 269
A cellular test for Ehlers-Danlos syndromes diagnosis. 267
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 261
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 255
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 254
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes 252
Ehlers–Danlos syndrome, classical type 250
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 250
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 245
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 242
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 238
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 230
Dystrophic epidermolysis bullosa pruriginosa in Italy: molecular characterization and pathogenesic aspects 225
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 225
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. 224
Phosphocaveolin-1 enforces tumor growth and chemoresistance in rhabdomyosarcoma 222
Complications of acute stroke and the occurrence of early seizures. 221
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 221
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 213
Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients 208
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 207
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 206
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. 206
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 203
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 200
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 200
COL6A5 variants in familial neuropathic chronic itch 199
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 196
Arterial tortuosity in patients with spontaneous cervical artery dissection 196
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 193
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 189
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations: A New Family and Review of the Literature 189
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 188
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma 187
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 186
Angiokeratoma Corporis Diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. 184
The type III-9 repeat of human fibronectin is encoded by a single exon which is not alternatively spliced. 184
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 183
Study of conformational properties of a biologically active peptide of Fibronectin by circular dichroism, NMR and molecular dynamics simulation 182
A Taq RFLP for the human fibronectin (FN1) gene 182
A frequent HaeIII RFLP of the human fibronectin gene 179
Despite celiprolol therapy, patients with vascular Ehlers–Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center 175
Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen 174
A common MspI RFLP of the human fibronectin gene (FN1) 173
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 171
L’integrina avb3 inibisce il potenziale invasivo e metastatico di cellule tumorali umane esprimenti stabilmente il peptide FN13, attraverso la disattivazione di ILK. 170
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 168
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 165
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 165
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 165
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 164
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 163
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 162
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 162
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 162
Arterial tortuosity syndrome in two Italian paediatric patients. 161
RT-PCR detection of fibronectin EDA+ and EDB+ mRNA isoforms: molecular markers for hepatocellular carcinoma 160
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 158
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 157
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 157
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 156
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 156
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 155
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B 153
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 153
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. 152
Totale 23.785
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Categoria #
all - tutte 169.767
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 169.767
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.920 0 380 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
2025/20269.465 853 1.147 632 1.241 919 762 1.593 390 549 804 399 176
2026/20271.430 952 478 0 0 0 0 0 0 0 0 0 0
Totale 39.942