IRIS Institutional Research Information System - OPENBS Open Archive UniBS

RITELLI, MARCO GIUSEPPE
 Distribuzione geografica
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Continente #
NA - Nord America 11.289
EU - Europa 7.939
AS - Asia 4.818
SA - Sud America 814
Continente sconosciuto - Info sul continente non disponibili 399
AF - Africa 127
OC - Oceania 57
Totale 25.443
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Nazione #
US - Stati Uniti d'America 11.007
PL - Polonia 3.736
SG - Singapore 1.672
CN - Cina 1.513
IT - Italia 1.133
UA - Ucraina 732
BR - Brasile 654
HK - Hong Kong 513
DE - Germania 509
FR - Francia 413
GB - Regno Unito 398
VN - Vietnam 371
FI - Finlandia 346
RU - Federazione Russa 167
CA - Canada 165
TR - Turchia 161
IE - Irlanda 150
IN - India 142
BD - Bangladesh 114
NL - Olanda 95
ID - Indonesia 73
BE - Belgio 50
ZA - Sudafrica 48
AR - Argentina 45
SE - Svezia 45
AU - Australia 44
JP - Giappone 42
MX - Messico 42
ES - Italia 39
AT - Austria 34
IQ - Iraq 31
PK - Pakistan 29
SA - Arabia Saudita 29
EC - Ecuador 25
CL - Cile 20
VE - Venezuela 19
PH - Filippine 18
CH - Svizzera 17
CR - Costa Rica 16
MA - Marocco 16
CO - Colombia 15
JM - Giamaica 15
NG - Nigeria 14
JO - Giordania 13
KR - Corea 13
NZ - Nuova Zelanda 13
AE - Emirati Arabi Uniti 12
PT - Portogallo 12
HN - Honduras 10
PY - Paraguay 10
BO - Bolivia 9
LT - Lituania 9
PE - Perù 9
TW - Taiwan 9
CZ - Repubblica Ceca 8
IL - Israele 8
NP - Nepal 8
TN - Tunisia 8
UY - Uruguay 8
UZ - Uzbekistan 8
DK - Danimarca 7
EG - Egitto 7
GR - Grecia 7
KE - Kenya 7
MU - Mauritius 6
MY - Malesia 6
BB - Barbados 5
EE - Estonia 5
ET - Etiopia 5
EU - Europa 5
GT - Guatemala 5
KZ - Kazakistan 5
HU - Ungheria 4
NO - Norvegia 4
PA - Panama 4
SV - El Salvador 4
TT - Trinidad e Tobago 4
BH - Bahrain 3
DZ - Algeria 3
IR - Iran 3
OM - Oman 3
TH - Thailandia 3
AL - Albania 2
AZ - Azerbaigian 2
BG - Bulgaria 2
CG - Congo 2
DO - Repubblica Dominicana 2
GD - Grenada 2
HR - Croazia 2
KY - Cayman, isole 2
LB - Libano 2
LK - Sri Lanka 2
MD - Moldavia 2
NI - Nicaragua 2
RO - Romania 2
SC - Seychelles 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
SY - Repubblica araba siriana 2
XK - ???statistics.table.value.countryCode.XK??? 2
Totale 25.025
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Città #
Warsaw 3.725
Ashburn 1.089
Fairfield 1.014
Singapore 924
San Jose 707
Woodbridge 654
Jacksonville 555
Hong Kong 507
Houston 470
Seattle 400
Cambridge 390
Wilmington 374
Beijing 369
Council Bluffs 344
The Dalles 326
New York 316
Chandler 285
Princeton 273
Brescia 264
Ann Arbor 255
Helsinki 254
Los Angeles 211
Dublin 154
Dong Ket 143
Nanjing 142
Lauterbourg 130
Munich 125
Istanbul 122
Dearborn 115
Dallas 99
Santa Clara 87
Milan 86
Ho Chi Minh City 81
Lancaster 80
Rome 77
Des Moines 71
Columbus 70
San Diego 67
São Paulo 65
San Francisco 64
London 62
Jinan 60
Phoenix 60
Chicago 59
Shanghai 58
St Louis 58
Moscow 57
Buffalo 56
Jakarta 56
Redondo Beach 53
Orem 51
Changsha 44
Hanoi 44
Shenyang 43
Toronto 43
Nanchang 41
Turku 41
Montreal 37
Tianjin 37
Tokyo 37
Denver 34
Hebei 34
North Charleston 31
Nuremberg 31
Brussels 29
Chennai 29
Frankfurt am Main 29
Atlanta 28
Bologna 28
Brooklyn 28
Johannesburg 28
Boston 27
Hangzhou 25
Zhengzhou 25
Boardman 24
Washington 24
Guangzhou 23
Rio de Janeiro 21
Manchester 20
Mexico City 20
Ningbo 20
Amsterdam 19
Jiaxing 19
Belo Horizonte 18
Fuzhou 18
Naples 18
Stockholm 18
Vienna 18
Verona 17
Baltimore 16
Florence 16
Omaha 16
Turin 16
Abuja 14
Baghdad 14
El Cajon 14
Miami 14
Riyadh 14
Charlotte 13
Haikou 13
Totale 17.344
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Nome #
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 460
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 433
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 354
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 347
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 346
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 333
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 316
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 313
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 307
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) 304
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 303
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 301
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 299
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 299
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 299
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 298
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 296
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 289
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. 287
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 283
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 280
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 276
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 273
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 261
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 261
ADAR therapy: a breakthrough against genetic disorders 258
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 256
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 256
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 255
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 245
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 244
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 239
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 239
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 232
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. 229
Complications of acute stroke and the occurrence of early seizures. 228
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 227
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 222
COL6A5 variants in familial neuropathic chronic itch 216
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 214
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 214
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 213
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 209
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 209
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 203
Arterial tortuosity in patients with spontaneous cervical artery dissection 202
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 199
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 197
Despite celiprolol therapy, patients with vascular Ehlers–Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center 193
L’integrina avb3 inibisce il potenziale invasivo e metastatico di cellule tumorali umane esprimenti stabilmente il peptide FN13, attraverso la disattivazione di ILK. 184
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 181
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 180
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 177
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 174
Abnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene 174
Arterial tortuosity syndrome in two Italian paediatric patients. 173
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 173
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 172
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 172
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 170
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 169
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 169
Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers–Danlos Syndrome: Focus on Vascular Prevention 162
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 162
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. 161
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 161
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 161
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. 159
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A>G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy 159
Characterization of a 13 aminoacid human fibronectin peptide induce matrix assembly and inhibiting migration and invasion in tumor cells 157
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 157
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 157
Matrix metalloproteinases inhibition by doxycycline rescues extracellular matrix organization and partly reverts myofibroblast differentiation in hypermobile ehlers-danlos syndrome dermal fibroblasts: A potential therapeutic target? 157
Molecular genetics and pathogenesis of Ehlers–Danlos syndrome and related connective tissue disorders 156
Macrophage cell cultures for rapid isolation of intracellular bacteria: the Mycobacterium bovis model 155
Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker 153
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. 153
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 148
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients 147
COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap 145
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review 145
Age-dependent effect of susceptibility factors on the risk of intracerebral haemorrhage: Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 145
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis 144
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 143
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 142
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 138
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. 138
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 138
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients 137
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain 137
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: Further delineation of the phenotype 137
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 136
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa 136
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3. 135
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts 134
Short-term pulse pressure variability: a novel prognostic marker and therapeutic target in patients with vascular Ehlers-Danlos syndrome? Preliminary results from a pilot study 132
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 132
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. 131
Use of a macrophage cell line for rapid detection of Mycobacterium bovis in diagnostic samples 129
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA 127
Totale 21.031
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Categoria #
all - tutte 107.140
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 107.140
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022899 0 0 0 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
2024/20252.853 42 20 44 432 263 240 250 94 314 209 583 362
2025/20266.171 611 694 400 720 589 532 1.047 286 347 522 296 127
2026/20272.035 377 461 575 622 0 0 0 0 0 0 0 0
Totale 25.443