IRIS Institutional Research Information System - OPENBS Open Archive UniBS

COLOMBI, MARINA
 Distribuzione geografica
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Continente #
NA - Nord America 11.727
EU - Europa 10.134
AS - Asia 3.386
OC - Oceania 30
SA - Sud America 25
AF - Africa 17
Continente sconosciuto - Info sul continente non disponibili 12
AN - Antartide 1
Totale 25.332
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Nazione #
US - Stati Uniti d'America 11.672
PL - Polonia 5.294
CN - Cina 1.623
UA - Ucraina 1.372
IT - Italia 932
SG - Singapore 687
DE - Germania 599
FR - Francia 460
GB - Regno Unito 417
HK - Hong Kong 416
FI - Finlandia 384
IE - Irlanda 250
TR - Turchia 234
RU - Federazione Russa 212
VN - Vietnam 188
IN - India 98
BE - Belgio 66
ID - Indonesia 63
CA - Canada 55
NL - Olanda 55
SE - Svezia 39
AU - Australia 26
KR - Corea 21
CZ - Repubblica Ceca 16
BR - Brasile 13
ES - Italia 12
EU - Europa 12
JP - Giappone 12
MU - Mauritius 10
TW - Taiwan 8
IR - Iran 7
SA - Arabia Saudita 6
ZA - Sudafrica 5
AE - Emirati Arabi Uniti 4
AT - Austria 4
CL - Cile 4
NZ - Nuova Zelanda 4
EC - Ecuador 3
LK - Sri Lanka 3
PE - Perù 3
PH - Filippine 3
AL - Albania 2
BA - Bosnia-Erzegovina 2
GR - Grecia 2
IL - Israele 2
LA - Repubblica Popolare Democratica del Laos 2
LT - Lituania 2
NO - Norvegia 2
PK - Pakistan 2
PT - Portogallo 2
RO - Romania 2
SK - Slovacchia (Repubblica Slovacca) 2
AM - Armenia 1
BG - Bulgaria 1
BH - Bahrain 1
BO - Bolivia 1
BY - Bielorussia 1
CH - Svizzera 1
CY - Cipro 1
GE - Georgia 1
GS - Georgia del Sud e Isole Sandwich Australi 1
HR - Croazia 1
HU - Ungheria 1
IM - Isola di Man 1
JO - Giordania 1
KZ - Kazakistan 1
MA - Marocco 1
SC - Seychelles 1
TH - Thailandia 1
VE - Venezuela 1
Totale 25.332
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Città #
Warsaw 5.286
Fairfield 1.782
Woodbridge 1.281
Jacksonville 1.024
Ashburn 977
Houston 917
Cambridge 699
Seattle 686
Wilmington 644
Singapore 579
Ann Arbor 499
Chandler 462
Princeton 462
Hong Kong 412
Brescia 355
Nanjing 323
Beijing 297
New York 274
Helsinki 252
Dublin 250
Dearborn 219
Istanbul 203
Dong Ket 187
Lancaster 163
Des Moines 117
Jinan 105
Nanchang 99
Shenyang 93
Moscow 89
San Diego 85
Hebei 77
Changsha 71
Shanghai 70
Milan 63
Jakarta 60
Tianjin 57
Los Angeles 52
Jiaxing 48
London 47
Kunming 41
Munich 41
Brussels 40
Zhengzhou 40
Hangzhou 37
Ningbo 36
Rome 34
Toronto 33
Phoenix 30
Verona 30
Boardman 26
Fuzhou 24
San Francisco 24
Lanzhou 23
Taizhou 23
Washington 23
Waanrode 22
Guangzhou 19
Haikou 17
Norwalk 17
San Mateo 17
Kocaeli 15
Orange 14
Augusta 13
Monmouth Junction 13
Falkenstein 12
Falls Church 12
Ottawa 12
Santa Clara 12
Seongnam 11
Kilburn 10
Leawood 10
Salerno 10
Turin 10
Melbourne 9
Olomouc 9
Pune 9
Taiyuan 9
Lappeenranta 8
Padova 8
Redwood City 8
Torino 8
Ardabil 7
Auburn Hills 7
Canberra 7
Changchun 7
Council Bluffs 7
Florence 7
Frankfurt am Main 7
Romola 7
Seregno 7
Siena 7
Taipei 7
Baltimore 6
Brno 6
Chiswick 6
Fremont 6
Napoli 6
Bergamo 5
Casalpusterlengo 5
Indiana 5
Totale 20.307
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Nome #
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 304
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome 297
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 282
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 268
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) 268
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 262
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 256
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 255
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 253
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 252
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 251
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 250
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome 249
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome 248
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 246
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 245
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 243
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 237
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 235
Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain 231
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 228
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. 227
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 224
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 222
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 218
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type 216
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes 215
Linee guida. Diagnosi delle epidermolisi bollose ereditarie. 214
Ehlers–Danlos syndrome, classical type 214
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 210
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 206
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 206
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 194
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 194
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 191
A cellular test for Ehlers-Danlos syndromes diagnosis. 190
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 188
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 183
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 179
Dystrophic epidermolysis bullosa pruriginosa in Italy: molecular characterization and pathogenesic aspects 171
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 169
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 167
Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients 165
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 162
Caveolin-1, Caveolin-2 and Cavin-1 are strong predictors of adipogenic differentiation in human tumors and cell lines of liposarcoma 161
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. 158
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 155
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 154
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 152
Complications of acute stroke and the occurrence of early seizures. 150
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 148
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. 147
Phosphocaveolin-1 enforces tumor growth and chemoresistance in rhabdomyosarcoma 146
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 146
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 144
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma 138
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 136
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 135
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 135
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 135
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 134
Study of conformational properties of a biologically active peptide of Fibronectin by circular dichroism, NMR and molecular dynamics simulation 134
The type III-9 repeat of human fibronectin is encoded by a single exon which is not alternatively spliced. 134
Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen 134
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 130
Angiokeratoma Corporis Diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. 126
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B 125
RT-PCR detection of fibronectin EDA+ and EDB+ mRNA isoforms: molecular markers for hepatocellular carcinoma 124
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 124
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 124
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 119
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 118
Arterial tortuosity in patients with spontaneous cervical artery dissection 116
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 115
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. 113
Ischemic stroke in an adolescent with arterial tortuosity syndrome. 113
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 113
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations: A New Family and Review of the Literature 113
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 113
Arterial tortuosity syndrome in two Italian paediatric patients. 112
Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa. 112
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. 112
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 112
Plasminogen activator activity of human plasma and transformed cells conditioned media: dependence on divalent cations. 111
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 111
COL6A5 variants in familial neuropathic chronic itch 110
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 110
Melatonin decreases cell proliferation, impairs myogenic differentiation and triggers apoptotic cell death in rhabdomyosarcoma cell lines 110
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. 109
Chronic glutamate treatment selectively modulates AMPA RNA editing and ADAR expression and activity in primary cortical neurons 109
A frequent HaeIII RFLP of the human fibronectin gene 108
A common MspI RFLP of the human fibronectin gene (FN1) 107
Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype 106
Phenotypic correction of the defective fibronectin extracellular matrix of Ehlers-Danlos syndrome fibroblasts. 106
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. 106
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 106
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 105
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 105
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 104
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 104
Totale 16.822
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Categoria #
all - tutte 111.981
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 111.981
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20204.720 0 0 0 0 0 877 703 809 614 967 356 394
2020/20214.570 153 450 247 584 262 477 258 490 516 445 392 296
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
2024/20251.576 50 24 60 641 436 365 0 0 0 0 0 0
Totale 25.999