IRIS Institutional Research Information System - OPENBS Open Archive UniBS

RITELLI, Marco Giuseppe
 Distribuzione geografica
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Continente #
NA - Nord America 6.765
EU - Europa 6.708
AS - Asia 2.302
SA - Sud America 66
OC - Oceania 30
AF - Africa 12
Continente sconosciuto - Info sul continente non disponibili 5
Totale 15.888
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Nazione #
US - Stati Uniti d'America 6.719
PL - Polonia 3.706
CN - Cina 823
IT - Italia 720
UA - Ucraina 706
SG - Singapore 621
HK - Hong Kong 428
DE - Germania 379
FR - Francia 259
GB - Regno Unito 234
FI - Finlandia 218
IE - Irlanda 149
VN - Vietnam 144
RU - Federazione Russa 141
TR - Turchia 136
ID - Indonesia 53
IN - India 53
NL - Olanda 53
BR - Brasile 51
BE - Belgio 50
CA - Canada 40
AT - Austria 26
SE - Svezia 26
AU - Australia 21
ES - Italia 11
NZ - Nuova Zelanda 9
CZ - Repubblica Ceca 7
JP - Giappone 7
EC - Ecuador 6
TW - Taiwan 6
EU - Europa 5
MU - Mauritius 5
PH - Filippine 5
ZA - Sudafrica 5
CL - Cile 4
KR - Corea 4
PT - Portogallo 4
AE - Emirati Arabi Uniti 3
IR - Iran 3
MX - Messico 3
PE - Perù 3
PK - Pakistan 3
CH - Svizzera 2
GR - Grecia 2
HU - Ungheria 2
JO - Giordania 2
LK - Sri Lanka 2
MA - Marocco 2
NO - Norvegia 2
PA - Panama 2
SA - Arabia Saudita 2
SK - Slovacchia (Repubblica Slovacca) 2
AM - Armenia 1
BG - Bulgaria 1
BH - Bahrain 1
BO - Bolivia 1
BY - Bielorussia 1
CO - Colombia 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
EE - Estonia 1
HR - Croazia 1
IL - Israele 1
IM - Isola di Man 1
KG - Kirghizistan 1
LA - Repubblica Popolare Democratica del Laos 1
LT - Lituania 1
LV - Lettonia 1
MY - Malesia 1
RO - Romania 1
UZ - Uzbekistan 1
Totale 15.888
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Città #
Warsaw 3.698
Fairfield 1.013
Woodbridge 653
Ashburn 584
Jacksonville 547
Houston 449
Hong Kong 425
Cambridge 389
Seattle 388
Singapore 382
Wilmington 370
Chandler 285
Princeton 269
Ann Arbor 255
Brescia 239
New York 175
Beijing 168
Helsinki 168
Dublin 149
Dong Ket 143
Nanjing 141
Istanbul 121
Dearborn 115
Lancaster 77
Des Moines 65
Jinan 59
Moscow 56
St Louis 55
Jakarta 51
San Diego 49
Los Angeles 47
Milan 47
Shanghai 46
Nanchang 40
Shenyang 40
Changsha 39
Rome 39
Munich 35
Hebei 34
London 34
Brussels 29
The Dalles 26
Tianjin 26
Nuremberg 25
Toronto 23
Phoenix 22
Zhengzhou 21
Boardman 20
Ningbo 20
Washington 20
Jiaxing 19
Hangzhou 17
Vienna 17
Fuzhou 16
Verona 14
Haikou 13
Lanzhou 13
Waanrode 13
Guangzhou 12
San Francisco 12
Turin 12
Kunming 11
Lappeenranta 11
Taizhou 11
Council Bluffs 10
Frankfurt am Main 10
Falkenstein 9
Falls Church 9
Norwalk 9
Santa Clara 9
Florence 8
Kilburn 8
Orange 8
Seregno 7
Siena 7
Fremont 6
Ghent 6
Melbourne 6
Napoli 6
Pune 6
Torino 6
Campinas 5
Canberra 5
Genoa 5
Kocaeli 5
Limbiate 5
Ottawa 5
Parma 5
Sydney 5
Auburn Hills 4
Baltimore 4
Bela-Bela 4
Bergamo 4
Buffalo 4
Canterbury 4
Chiswick 4
Cutrofiano 4
Madrid 4
Manila 4
Montreal 4
Totale 12.576
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Nome #
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 308
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 278
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 270
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) 269
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 264
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 261
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 259
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 254
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 254
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 252
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 252
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 247
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 240
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 239
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 233
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 232
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. 231
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 226
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 224
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 215
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 211
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 211
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 208
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 202
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 197
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 194
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 193
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 187
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 183
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 173
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 173
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 165
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. 163
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 163
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 160
Complications of acute stroke and the occurrence of early seizures. 160
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 156
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 149
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 140
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 139
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 138
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 135
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 131
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 130
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 128
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 125
Arterial tortuosity in patients with spontaneous cervical artery dissection 124
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 121
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. 120
Macrophage cell cultures for rapid isolation of intracellular bacteria: the Mycobacterium bovis model 119
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 117
COL6A5 variants in familial neuropathic chronic itch 117
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 116
Arterial tortuosity syndrome in two Italian paediatric patients. 115
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. 114
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 113
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 113
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 113
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. 112
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 111
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 110
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 110
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 110
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 108
L’integrina avb3 inibisce il potenziale invasivo e metastatico di cellule tumorali umane esprimenti stabilmente il peptide FN13, attraverso la disattivazione di ILK. 105
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis 104
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review 104
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 102
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. 101
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients 101
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: Further delineation of the phenotype 101
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 100
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 100
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 99
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients 98
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 98
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 96
Characterization of a 13 aminoacid human fibronectin peptide induce matrix assembly and inhibiting migration and invasion in tumor cells 95
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 95
Use of a macrophage cell line for rapid detection of Mycobacterium bovis in diagnostic samples 92
Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: Case report. 91
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain 91
COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap 89
Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-Dietz syndrome 86
Abnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene 86
Skeletal fragility: an emerging complication of Ehlers–Danlos syndrome 85
Molecular genetics and pathogenesis of Ehlers–Danlos syndrome and related connective tissue disorders 84
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 83
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 83
Modulation of the facilitative glucose transporters (SLC2A) gene family expression in arterial tortuosity syndrome skin fibroblasts and aortic vascular smooth muscle cells. 81
Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders. Edited by Marina Colombi and Marco Ritelli 79
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 77
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 76
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa 74
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3. 71
Spontaneous Coronary Artery Dissection in a YoungWoman With Loeys–Dietz Syndrome 68
Sindrome di Ehlers-Danlos ipermobile/sindrome da ipermobilità articolare: clinica, assistenza e ricerca in Italia 68
Caratterizzazione di una famiglia italiana affetta da artrogriposi distale di tipo 2B e mutazione ricorrente p.R63H nel gene TNNT3. 68
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. 67
Effects of IFN-alpha on the inflammatory response of swine leukocytes to bacterial endotoxin 65
Totale 14.548
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Categoria #
all - tutte 74.001
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 74.001
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.049 0 0 0 0 0 0 0 0 0 580 235 234
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
2024/20251.890 42 20 44 432 263 240 250 94 314 191 0 0
Totale 16.274