IRIS Institutional Research Information System - OPENBS Open Archive UniBS

RITELLI, MARCO GIUSEPPE
 Distribuzione geografica
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Continente #
NA - Nord America 9.599
EU - Europa 7.712
AS - Asia 4.711
SA - Sud America 790
AF - Africa 122
OC - Oceania 55
Continente sconosciuto - Info sul continente non disponibili 7
Totale 22.996
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Nazione #
US - Stati Uniti d'America 9.423
PL - Polonia 3.735
SG - Singapore 1.656
CN - Cina 1.496
IT - Italia 986
UA - Ucraina 732
BR - Brasile 644
DE - Germania 508
HK - Hong Kong 495
FR - Francia 411
VN - Vietnam 368
GB - Regno Unito 353
FI - Finlandia 346
RU - Federazione Russa 165
TR - Turchia 161
IE - Irlanda 150
IN - India 140
CA - Canada 109
BD - Bangladesh 93
NL - Olanda 88
ID - Indonesia 68
BE - Belgio 50
ZA - Sudafrica 48
AR - Argentina 44
AU - Australia 42
SE - Svezia 42
MX - Messico 40
JP - Giappone 37
AT - Austria 34
ES - Italia 32
IQ - Iraq 31
SA - Arabia Saudita 26
PK - Pakistan 23
EC - Ecuador 21
CL - Cile 18
VE - Venezuela 18
MA - Marocco 15
CH - Svizzera 14
NG - Nigeria 14
JO - Giordania 13
KR - Corea 13
NZ - Nuova Zelanda 13
AE - Emirati Arabi Uniti 12
PH - Filippine 12
PT - Portogallo 12
CO - Colombia 11
PY - Paraguay 10
BO - Bolivia 8
CZ - Repubblica Ceca 8
IL - Israele 8
LT - Lituania 8
NP - Nepal 8
PE - Perù 8
TN - Tunisia 8
UY - Uruguay 8
UZ - Uzbekistan 8
EG - Egitto 7
JM - Giamaica 7
KE - Kenya 7
TW - Taiwan 7
DK - Danimarca 6
MU - Mauritius 6
MY - Malesia 6
ET - Etiopia 5
EU - Europa 5
GR - Grecia 5
HU - Ungheria 4
KZ - Kazakistan 4
NO - Norvegia 4
PA - Panama 4
BH - Bahrain 3
CR - Costa Rica 3
DZ - Algeria 3
HN - Honduras 3
IR - Iran 3
OM - Oman 3
AL - Albania 2
AZ - Azerbaigian 2
BB - Barbados 2
BG - Bulgaria 2
CG - Congo 2
DO - Repubblica Dominicana 2
GT - Guatemala 2
LK - Sri Lanka 2
MD - Moldavia 2
RO - Romania 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
SV - El Salvador 2
SY - Repubblica araba siriana 2
TH - Thailandia 2
XK - ???statistics.table.value.countryCode.XK??? 2
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BN - Brunei Darussalam 1
BW - Botswana 1
BY - Bielorussia 1
CD - Congo 1
CY - Cipro 1
EE - Estonia 1
Totale 22.979
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Città #
Warsaw 3.723
Fairfield 1.014
Ashburn 985
Singapore 913
Woodbridge 654
Jacksonville 551
San Jose 516
Hong Kong 489
Houston 462
Seattle 396
Cambridge 390
Wilmington 372
Beijing 362
The Dalles 306
Chandler 285
New York 285
Princeton 269
Brescia 264
Ann Arbor 255
Helsinki 254
Los Angeles 178
Dublin 150
Council Bluffs 146
Dong Ket 143
Nanjing 142
Lauterbourg 130
Munich 125
Istanbul 122
Dearborn 115
Ho Chi Minh City 80
Lancaster 79
Milan 71
Des Moines 70
Dallas 65
São Paulo 62
Jinan 60
London 58
Moscow 57
Shanghai 57
St Louis 57
Santa Clara 56
Jakarta 55
Rome 54
Buffalo 53
Redondo Beach 53
San Diego 51
Chicago 45
San Francisco 45
Changsha 44
Orem 44
Hanoi 43
Shenyang 43
Nanchang 41
Phoenix 41
Turku 41
Tianjin 37
Hebei 34
Tokyo 32
Montreal 31
Toronto 31
Nuremberg 30
Brussels 29
Frankfurt am Main 29
Johannesburg 28
Chennai 27
Bologna 25
Hangzhou 25
Zhengzhou 25
Guangzhou 23
Boardman 22
Washington 22
Denver 21
Rio de Janeiro 21
Boston 20
Brooklyn 20
Mexico City 20
Ningbo 20
Amsterdam 19
Atlanta 19
Jiaxing 19
Belo Horizonte 18
Fuzhou 18
Vienna 18
Manchester 16
Verona 16
Stockholm 15
Turin 15
Abuja 14
Baghdad 14
Florence 14
Haikou 13
Haiphong 13
Lanzhou 13
Porto Alegre 13
Sydney 13
Waanrode 13
Lappeenranta 12
Pune 12
Taizhou 12
Amman 11
Totale 16.333
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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 422
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 359
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 338
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 336
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 321
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 317
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 298
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 298
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 298
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) 296
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 294
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 293
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 289
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 289
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 288
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 285
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 285
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 283
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. 278
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 274
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 268
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 264
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 258
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 252
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 252
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 240
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 240
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 239
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 238
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 234
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 227
Complications of acute stroke and the occurrence of early seizures. 220
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. 220
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 220
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 219
ADAR therapy: a breakthrough against genetic disorders 209
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 209
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 205
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 205
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 203
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 197
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 197
Arterial tortuosity in patients with spontaneous cervical artery dissection 196
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 187
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 187
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 183
COL6A5 variants in familial neuropathic chronic itch 172
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 167
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 165
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 164
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 163
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 161
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 161
L’integrina avb3 inibisce il potenziale invasivo e metastatico di cellule tumorali umane esprimenti stabilmente il peptide FN13, attraverso la disattivazione di ILK. 160
Arterial tortuosity syndrome in two Italian paediatric patients. 160
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 160
Despite celiprolol therapy, patients with vascular Ehlers–Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center 159
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 159
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 158
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 156
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 156
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 155
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 155
Abnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene 155
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 154
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 152
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. 151
Characterization of a 13 aminoacid human fibronectin peptide induce matrix assembly and inhibiting migration and invasion in tumor cells 150
Macrophage cell cultures for rapid isolation of intracellular bacteria: the Mycobacterium bovis model 150
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 149
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. 145
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. 142
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 141
Molecular genetics and pathogenesis of Ehlers–Danlos syndrome and related connective tissue disorders 139
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review 138
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis 137
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients 135
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 135
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 134
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 131
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. 131
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 130
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 130
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3. 129
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa 129
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: Further delineation of the phenotype 129
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain 128
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 127
COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap 127
Age-dependent effect of susceptibility factors on the risk of intracerebral haemorrhage: Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 127
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients 125
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. 125
Use of a macrophage cell line for rapid detection of Mycobacterium bovis in diagnostic samples 124
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 120
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 120
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA 120
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 120
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts 119
Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: Case report. 117
Modulation of the facilitative glucose transporters (SLC2A) gene family expression in arterial tortuosity syndrome skin fibroblasts and aortic vascular smooth muscle cells. 114
Totale 19.570
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Categoria #
all - tutte 97.516
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 97.516
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021214 0 0 0 0 0 0 0 0 0 0 0 214
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
2024/20252.853 42 20 44 432 263 240 250 94 314 209 583 362
2025/20266.150 611 694 400 720 589 532 1.047 286 347 522 296 106
Totale 23.387