IRIS Institutional Research Information System - OPENBS Open Archive UniBS

RITELLI, Marco Giuseppe
 Distribuzione geografica
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Continente #
NA - Nord America 6.378
EU - Europa 6.251
AS - Asia 1.384
OC - Oceania 21
SA - Sud America 19
AF - Africa 8
Continente sconosciuto - Info sul continente non disponibili 5
Totale 14.066
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Nazione #
US - Stati Uniti d'America 6.349
PL - Polonia 3.705
CN - Cina 771
UA - Ucraina 704
IT - Italia 584
DE - Germania 314
FR - Francia 257
HK - Hong Kong 236
GB - Regno Unito 212
FI - Finlandia 190
IE - Irlanda 146
SG - Singapore 144
VN - Vietnam 143
IN - India 49
BE - Belgio 38
NL - Olanda 30
CA - Canada 29
SE - Svezia 25
AU - Australia 20
RU - Federazione Russa 20
TR - Turchia 13
BR - Brasile 10
ES - Italia 8
CZ - Repubblica Ceca 7
EU - Europa 5
JP - Giappone 5
MU - Mauritius 5
CL - Cile 4
EC - Ecuador 4
IR - Iran 3
KR - Corea 3
TW - Taiwan 3
AT - Austria 2
GR - Grecia 2
ID - Indonesia 2
PH - Filippine 2
PK - Pakistan 2
SK - Slovacchia (Repubblica Slovacca) 2
ZA - Sudafrica 2
AE - Emirati Arabi Uniti 1
BH - Bahrain 1
BY - Bielorussia 1
CH - Svizzera 1
HR - Croazia 1
IL - Israele 1
JO - Giordania 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
MA - Marocco 1
MY - Malesia 1
NZ - Nuova Zelanda 1
PE - Perù 1
PT - Portogallo 1
RO - Romania 1
SA - Arabia Saudita 1
Totale 14.066
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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
Chandler 285
Princeton 269
Ann Arbor 255
Hong Kong 233
Brescia 225
New York 175
Beijing 164
Dublin 146
Helsinki 144
Dong Ket 143
Nanjing 141
Dearborn 115
Singapore 88
Lancaster 77
Des Moines 62
Jinan 58
San Diego 49
Shanghai 46
Nanchang 40
Shenyang 40
Changsha 36
Hebei 34
Los Angeles 34
Rome 31
Milan 29
London 28
Tianjin 25
Brussels 22
Phoenix 22
Zhengzhou 21
Ningbo 20
Toronto 20
Washington 20
Jiaxing 19
Boardman 18
Fuzhou 16
Hangzhou 16
Verona 14
Haikou 13
Lanzhou 13
Waanrode 13
Kunming 11
Munich 11
San Francisco 11
Guangzhou 10
Taizhou 10
Falls Church 9
Norwalk 9
Kilburn 8
Orange 8
Lappeenranta 7
Seregno 7
Siena 7
Melbourne 6
Napoli 6
Pune 6
Torino 6
Canberra 5
Kocaeli 5
Limbiate 5
Sydney 5
Auburn Hills 4
Chiswick 4
Cutrofiano 4
Florence 4
Olomouc 4
Ottaviano 4
Redwood City 4
Santa Clara 4
São Paulo 4
Taiyuan 4
Talcahuano 4
Tappahannock 4
Turin 4
Ardabil 3
Buffalo 3
Chicago 3
Como 3
Council Bluffs 3
Cuenca 3
Falkenstein 3
Feira de Santana 3
Frankfurt am Main 3
Gunzenhausen 3
Honolulu 3
Indiana 3
Krakow 3
Leawood 3
Madrid 3
Moscow 3
Nürnberg 3
Totale 11.561
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Nome #
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 299
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) 263
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 259
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 255
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 253
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 248
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 246
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 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 241
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 240
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 238
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 229
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 229
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 223
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 218
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. 217
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 214
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 205
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 202
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 199
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 195
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 189
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 186
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 182
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 180
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 174
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 169
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 162
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 162
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 156
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 149
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. 148
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 146
Complications of acute stroke and the occurrence of early seizures. 141
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 141
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos 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 131
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 127
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 124
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 121
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 120
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 119
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 114
Macrophage cell cultures for rapid isolation of intracellular bacteria: the Mycobacterium bovis model 112
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 111
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 110
Arterial tortuosity in patients with spontaneous cervical artery dissection 110
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. 109
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. 107
Arterial tortuosity syndrome in two Italian paediatric patients. 107
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 107
COL6A5 variants in familial neuropathic chronic itch 106
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 103
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 102
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 101
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. 100
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 100
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 100
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 98
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 97
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis 95
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 94
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. 93
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients 92
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review 91
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: Further delineation of the phenotype 90
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 89
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 89
L’integrina avb3 inibisce il potenziale invasivo e metastatico di cellule tumorali umane esprimenti stabilmente il peptide FN13, attraverso la disattivazione di ILK. 88
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 88
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 88
Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: Case report. 87
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 87
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 83
Characterization of a 13 aminoacid human fibronectin peptide induce matrix assembly and inhibiting migration and invasion in tumor cells 81
Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-Dietz syndrome 81
COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap 80
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain 79
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients 78
Use of a macrophage cell line for rapid detection of Mycobacterium bovis in diagnostic samples 77
Skeletal fragility: an emerging complication of Ehlers–Danlos syndrome 77
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 77
Modulation of the facilitative glucose transporters (SLC2A) gene family expression in arterial tortuosity syndrome skin fibroblasts and aortic vascular smooth muscle cells. 70
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 69
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 67
Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders. Edited by Marina Colombi and Marco Ritelli 67
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 67
Abnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene 67
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 65
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa 64
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 63
Sindrome di Ehlers-Danlos ipermobile/sindrome da ipermobilità articolare: clinica, assistenza e ricerca in Italia 62
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3. 62
Molecular genetics and pathogenesis of Ehlers–Danlos syndrome and related connective tissue disorders 62
Spontaneous Coronary Artery Dissection in a YoungWoman With Loeys–Dietz Syndrome 60
Caratterizzazione di una famiglia italiana affetta da artrogriposi distale di tipo 2B e mutazione ricorrente p.R63H nel gene TNNT3. 60
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 60
Effects of IFN-alpha on the inflammatory response of swine leukocytes to bacterial endotoxin 58
In search of the SLC2A10 gene role in the etiopathogenesis of arterial tortuosity syndrome by transcriptomic and biochemical approaches 55
Totale 13.184
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Categoria #
all - tutte 57.079
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 57.079
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20204.016 0 234 228 346 378 530 398 469 384 580 235 234
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
2024/202553 42 11 0 0 0 0 0 0 0 0 0 0
Totale 14.437