IRIS Institutional Research Information System - OPENBS Open Archive UniBS

COLOMBI, MARINA
 Distribuzione geografica
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Continente #
NA - Nord America 11.356
EU - Europa 9.648
AS - Asia 2.362
OC - Oceania 24
SA - Sud America 20
Continente sconosciuto - Info sul continente non disponibili 12
AF - Africa 11
AN - Antartide 1
Totale 23.434
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Nazione #
US - Stati Uniti d'America 11.309
PL - Polonia 5.288
CN - Cina 1.545
UA - Ucraina 1.372
IT - Italia 801
DE - Germania 545
FR - Francia 460
HK - Hong Kong 415
GB - Regno Unito 399
FI - Finlandia 345
IE - Irlanda 249
VN - Vietnam 188
IN - India 93
BE - Belgio 59
CA - Canada 47
NL - Olanda 47
SE - Svezia 39
TR - Turchia 30
SG - Singapore 24
AU - Australia 22
KR - Corea 20
RU - Federazione Russa 17
EU - Europa 12
BR - Brasile 10
ES - Italia 10
JP - Giappone 10
MU - Mauritius 10
IR - Iran 7
SA - Arabia Saudita 6
CL - Cile 4
AE - Emirati Arabi Uniti 3
AT - Austria 3
EC - Ecuador 3
ID - Indonesia 3
LK - Sri Lanka 3
PH - Filippine 3
AL - Albania 2
BA - Bosnia-Erzegovina 2
GR - Grecia 2
IL - Israele 2
LA - Repubblica Popolare Democratica del Laos 2
NZ - Nuova Zelanda 2
PE - Perù 2
PK - Pakistan 2
RO - Romania 2
AM - Armenia 1
BH - Bahrain 1
BY - Bielorussia 1
CH - Svizzera 1
CY - Cipro 1
CZ - Repubblica Ceca 1
GS - Georgia del Sud e Isole Sandwich Australi 1
HR - Croazia 1
JO - Giordania 1
PT - Portogallo 1
SC - Seychelles 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
TW - Taiwan 1
VE - Venezuela 1
Totale 23.434
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Città #
Warsaw 5.286
Fairfield 1.782
Woodbridge 1.281
Jacksonville 1.024
Ashburn 969
Houston 916
Cambridge 699
Seattle 686
Wilmington 644
Ann Arbor 499
Chandler 462
Princeton 462
Hong Kong 411
Brescia 345
Nanjing 323
Beijing 293
New York 274
Dublin 249
Dearborn 219
Helsinki 216
Dong Ket 187
Lancaster 163
Des Moines 117
Jinan 104
Nanchang 99
Shenyang 93
San Diego 85
Hebei 77
Changsha 68
Tianjin 56
Shanghai 52
Milan 49
Jiaxing 48
Los Angeles 45
London 44
Kunming 41
Zhengzhou 40
Hangzhou 36
Ningbo 36
Brussels 33
Rome 31
Phoenix 30
Verona 30
Toronto 28
Fuzhou 24
San Francisco 24
Lanzhou 23
Washington 23
Taizhou 22
Waanrode 22
Guangzhou 18
Haikou 17
Norwalk 17
San Mateo 17
Boardman 16
Kocaeli 15
Orange 14
Augusta 13
Monmouth Junction 13
Falls Church 12
Seongnam 11
Kilburn 10
Leawood 10
Ottawa 10
Salerno 10
Pune 9
Taiyuan 9
Redwood City 8
Torino 8
Ardabil 7
Auburn Hills 7
Canberra 7
Changchun 7
Melbourne 7
Seregno 7
Siena 7
Singapore 7
Chiswick 6
Lappeenranta 6
Napoli 6
Padova 6
Casalpusterlengo 5
Falkenstein 5
Frankfurt am Main 5
Indiana 5
Riyadh 5
Berlin 4
Calvisano 4
Chicago 4
Cremona 4
Cutrofiano 4
Florence 4
Gunzenhausen 4
Hefei 4
Lecce 4
Madrid 4
Modena 4
Ottaviano 4
Paris 4
Prescot 4
Totale 19.168
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Nome #
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 298
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome 279
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 275
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) 262
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 258
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 253
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 252
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 247
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 246
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 245
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 243
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome 242
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 240
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome 240
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 239
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 239
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 238
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 229
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 227
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 221
Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain 220
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. 216
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 215
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes 211
Ehlers–Danlos syndrome, classical type 209
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type 207
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 207
Linee guida. Diagnosi delle epidermolisi bollose ereditarie. 205
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 203
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 201
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 198
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 194
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 187
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 185
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 181
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 179
A cellular test for Ehlers-Danlos syndromes diagnosis. 173
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 170
Dystrophic epidermolysis bullosa pruriginosa in Italy: molecular characterization and pathogenesic aspects 168
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 167
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 161
Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients 160
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 160
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 155
Caveolin-1, Caveolin-2 and Cavin-1 are strong predictors of adipogenic differentiation in human tumors and cell lines of liposarcoma 153
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 147
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. 146
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 141
Phosphocaveolin-1 enforces tumor growth and chemoresistance in rhabdomyosarcoma 139
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 139
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 139
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 138
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 137
Complications of acute stroke and the occurrence of early seizures. 137
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. 135
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma 131
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 131
Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen 130
Study of conformational properties of a biologically active peptide of Fibronectin by circular dichroism, NMR and molecular dynamics simulation 129
The type III-9 repeat of human fibronectin is encoded by a single exon which is not alternatively spliced. 127
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 127
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 126
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 124
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B 122
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 122
RT-PCR detection of fibronectin EDA+ and EDB+ mRNA isoforms: molecular markers for hepatocellular carcinoma 120
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 119
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 119
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 118
Angiokeratoma Corporis Diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. 116
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 113
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 110
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 109
Ischemic stroke in an adolescent with arterial tortuosity syndrome. 108
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. 108
Arterial tortuosity in patients with spontaneous cervical artery dissection 108
Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa. 107
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations: A New Family and Review of the Literature 107
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. 106
Plasminogen activator activity of human plasma and transformed cells conditioned media: dependence on divalent cations. 106
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 106
Arterial tortuosity syndrome in two Italian paediatric patients. 105
COL6A5 variants in familial neuropathic chronic itch 105
Melatonin decreases cell proliferation, impairs myogenic differentiation and triggers apoptotic cell death in rhabdomyosarcoma cell lines 105
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. 104
Chronic glutamate treatment selectively modulates AMPA RNA editing and ADAR expression and activity in primary cortical neurons 103
A frequent HaeIII RFLP of the human fibronectin gene 102
Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype 102
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 102
Phenotypic correction of the defective fibronectin extracellular matrix of Ehlers-Danlos syndrome fibroblasts. 101
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 101
A common MspI RFLP of the human fibronectin gene (FN1) 100
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 100
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 99
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 99
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 98
Genotype-phenotype correlation in Italian patients with epidermolysis bullosa dystrophica 97
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. 97
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 97
Exclusion of candidate genes in a family with arterial tortuosity syndrome 95
Totale 16.017
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Categoria #
all - tutte 89.528
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 89.528
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20191.089 0 0 0 0 0 0 0 0 0 0 556 533
2019/20207.479 784 359 388 662 566 877 703 809 614 967 356 394
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
2023/20241.750 132 43 138 177 124 418 92 66 440 93 27 0
Totale 24.099