IRIS Institutional Research Information System - OPENBS Open Archive UniBS

RITELLI, Marco Giuseppe
 Distribuzione geografica
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Continente #
NA - Nord America 6.565
EU - Europa 6.360
AS - Asia 1.806
OC - Oceania 23
SA - Sud America 21
AF - Africa 11
Continente sconosciuto - Info sul continente non disponibili 5
Totale 14.791
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Nazione #
US - Stati Uniti d'America 6.532
PL - Polonia 3.706
CN - Cina 795
UA - Ucraina 704
IT - Italia 637
SG - Singapore 363
DE - Germania 341
FR - Francia 257
HK - Hong Kong 237
GB - Regno Unito 219
FI - Finlandia 199
IE - Irlanda 146
VN - Vietnam 143
TR - Turchia 134
ID - Indonesia 52
IN - India 52
BE - Belgio 44
CA - Canada 33
NL - Olanda 32
SE - Svezia 25
AU - Australia 20
RU - Federazione Russa 20
BR - Brasile 12
ES - Italia 10
CZ - Repubblica Ceca 7
JP - Giappone 7
EU - Europa 5
MU - Mauritius 5
ZA - Sudafrica 5
CL - Cile 4
EC - Ecuador 4
KR - Corea 4
IR - Iran 3
NZ - Nuova Zelanda 3
TW - Taiwan 3
AE - Emirati Arabi Uniti 2
AT - Austria 2
GR - Grecia 2
PH - Filippine 2
PK - Pakistan 2
SK - Slovacchia (Repubblica Slovacca) 2
BG - Bulgaria 1
BH - Bahrain 1
BY - Bielorussia 1
CH - Svizzera 1
HR - Croazia 1
IL - Israele 1
IM - Isola di Man 1
JO - Giordania 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
MA - Marocco 1
MY - Malesia 1
PE - Perù 1
PT - Portogallo 1
RO - Romania 1
SA - Arabia Saudita 1
Totale 14.791
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Città #
Warsaw 3.698
Fairfield 1.013
Woodbridge 653
Ashburn 583
Jacksonville 547
Houston 449
Cambridge 389
Seattle 385
Wilmington 370
Singapore 302
Chandler 285
Princeton 269
Ann Arbor 255
Hong Kong 234
Brescia 228
New York 175
Beijing 164
Helsinki 152
Dublin 146
Dong Ket 143
Nanjing 141
Istanbul 121
Dearborn 115
Lancaster 77
Des Moines 62
Jinan 59
Jakarta 50
San Diego 49
Shanghai 46
Nanchang 40
Shenyang 40
Changsha 36
Los Angeles 36
Milan 35
Munich 35
Hebei 34
Rome 31
London 30
Brussels 28
Tianjin 25
Phoenix 22
Toronto 22
Zhengzhou 21
Ningbo 20
Washington 20
Jiaxing 19
Boardman 18
Fuzhou 16
Hangzhou 16
Verona 14
Haikou 13
Lanzhou 13
Waanrode 13
Guangzhou 12
Kunming 11
San Francisco 11
Taizhou 10
Turin 10
Falls Church 9
Norwalk 9
Kilburn 8
Lappeenranta 8
Orange 8
Santa Clara 8
Seregno 7
Siena 7
Florence 6
Fremont 6
Melbourne 6
Napoli 6
Pune 6
Torino 6
Canberra 5
Kocaeli 5
Limbiate 5
Parma 5
Sydney 5
Auburn Hills 4
Baltimore 4
Bela-Bela 4
Buffalo 4
Chiswick 4
Council Bluffs 4
Cutrofiano 4
Falkenstein 4
Frankfurt am Main 4
Olomouc 4
Ottaviano 4
Ottawa 4
Redwood City 4
Romola 4
São Paulo 4
Taiyuan 4
Talcahuano 4
Tappahannock 4
Ardabil 3
Chicago 3
Como 3
Cuenca 3
Feira de Santana 3
Totale 12.023
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Nome #
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 303
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 267
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) 267
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 261
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 255
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 252
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. 250
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 249
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
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 245
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 242
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 234
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 233
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 227
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. 225
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 222
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 221
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 216
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 207
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 206
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 204
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 193
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 193
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 187
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 185
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 182
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 177
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 167
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 166
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 160
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 153
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. 152
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 152
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 150
Complications of acute stroke and the occurrence of early seizures. 149
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 144
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
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 132
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 131
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 127
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 123
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 123
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 117
Arterial tortuosity in patients with spontaneous cervical artery dissection 115
Macrophage cell cultures for rapid isolation of intracellular bacteria: the Mycobacterium bovis model 115
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 114
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 113
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
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. 110
Arterial tortuosity syndrome in two Italian paediatric patients. 110
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 110
COL6A5 variants in familial neuropathic chronic itch 109
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 106
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 106
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 106
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 104
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 104
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. 103
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 102
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 102
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 99
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis 98
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. 96
L’integrina avb3 inibisce il potenziale invasivo e metastatico di cellule tumorali umane esprimenti stabilmente il peptide FN13, attraverso la disattivazione di ILK. 95
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients 95
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review 95
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: Further delineation of the phenotype 94
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 94
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 93
The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa 92
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 92
Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: Case report. 89
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 89
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 88
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 88
Characterization of a 13 aminoacid human fibronectin peptide induce matrix assembly and inhibiting migration and invasion in tumor cells 87
Use of a macrophage cell line for rapid detection of Mycobacterium bovis in diagnostic samples 87
Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-Dietz syndrome 84
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients 83
COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap 83
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 83
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain 82
Skeletal fragility: an emerging complication of Ehlers–Danlos syndrome 80
Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review 75
Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders. Edited by Marina Colombi and Marco Ritelli 75
Abnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene 75
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 74
Modulation of the facilitative glucose transporters (SLC2A) gene family expression in arterial tortuosity syndrome skin fibroblasts and aortic vascular smooth muscle cells. 73
Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype-guided genetic testing 72
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa 72
Molecular genetics and pathogenesis of Ehlers–Danlos syndrome and related connective tissue disorders 71
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 66
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3. 66
Sindrome di Ehlers-Danlos ipermobile/sindrome da ipermobilità articolare: clinica, assistenza e ricerca in Italia 65
Caratterizzazione di una famiglia italiana affetta da artrogriposi distale di tipo 2B e mutazione ricorrente p.R63H nel gene TNNT3. 64
Spontaneous Coronary Artery Dissection in a YoungWoman With Loeys–Dietz Syndrome 63
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with the novel homozygous c.1411+1G>A mutation in the SLC2A10 Gene. 62
Effects of IFN-alpha on the inflammatory response of swine leukocytes to bacterial endotoxin 61
Totale 13.734
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Categoria #
all - tutte 63.910
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 63.910
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20203.208 0 0 0 0 378 530 398 469 384 580 235 234
2020/20212.853 99 261 164 367 181 323 138 309 285 313 199 214
2021/20221.185 78 168 40 49 31 73 49 101 70 142 95 289
2022/2023975 173 8 28 68 75 259 22 100 120 17 48 57
2023/20241.346 84 31 94 126 83 281 62 41 250 74 46 174
2024/2025779 42 20 44 432 241 0 0 0 0 0 0 0
Totale 15.163