IRIS Institutional Research Information System - OPENBS Open Archive UniBS

RITELLI, Marco Giuseppe
 Distribuzione geografica
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Continente #
NA - Nord America 7.931
EU - Europa 7.145
AS - Asia 3.762
SA - Sud America 696
AF - Africa 69
OC - Oceania 40
Continente sconosciuto - Info sul continente non disponibili 6
Totale 19.649
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Nazione #
US - Stati Uniti d'America 7.813
PL - Polonia 3.724
CN - Cina 1.272
SG - Singapore 1.211
IT - Italia 771
UA - Ucraina 725
BR - Brasile 590
DE - Germania 488
HK - Hong Kong 468
GB - Regno Unito 327
VN - Vietnam 285
FR - Francia 271
FI - Finlandia 259
RU - Federazione Russa 158
IE - Irlanda 150
TR - Turchia 149
IN - India 114
CA - Canada 78
NL - Olanda 72
ID - Indonesia 62
BE - Belgio 50
BD - Bangladesh 44
SE - Svezia 38
ZA - Sudafrica 36
AR - Argentina 33
AT - Austria 30
ES - Italia 30
AU - Australia 28
JP - Giappone 28
MX - Messico 26
IQ - Iraq 20
SA - Arabia Saudita 18
EC - Ecuador 17
CL - Cile 13
KR - Corea 12
NZ - Nuova Zelanda 12
PK - Pakistan 12
VE - Venezuela 12
AE - Emirati Arabi Uniti 11
JO - Giordania 10
CO - Colombia 8
CZ - Repubblica Ceca 8
MA - Marocco 8
BO - Bolivia 7
PY - Paraguay 7
DK - Danimarca 6
IL - Israele 6
LT - Lituania 6
MU - Mauritius 6
PE - Perù 6
TW - Taiwan 6
EU - Europa 5
GR - Grecia 5
JM - Giamaica 5
KE - Kenya 5
PH - Filippine 5
UZ - Uzbekistan 5
EG - Egitto 4
NO - Norvegia 4
NP - Nepal 4
PT - Portogallo 4
TN - Tunisia 4
CH - Svizzera 3
ET - Etiopia 3
HU - Ungheria 3
IR - Iran 3
OM - Oman 3
UY - Uruguay 3
BB - Barbados 2
DO - Repubblica Dominicana 2
KZ - Kazakistan 2
LK - Sri Lanka 2
MY - Malesia 2
PA - Panama 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
AL - Albania 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BH - Bahrain 1
BY - Bielorussia 1
CD - Congo 1
EE - Estonia 1
GD - Grenada 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
IM - Isola di Man 1
KG - Kirghizistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LV - Lettonia 1
MD - Moldavia 1
PS - Palestinian Territory 1
RO - Romania 1
RS - Serbia 1
SY - Repubblica araba siriana 1
TH - Thailandia 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 19.649
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Città #
Warsaw 3.715
Fairfield 1.013
Ashburn 746
Woodbridge 654
Jacksonville 547
Singapore 512
Hong Kong 462
Houston 456
Seattle 395
Cambridge 389
Wilmington 372
Beijing 342
Chandler 285
Princeton 269
Ann Arbor 255
New York 252
Brescia 249
Helsinki 168
Los Angeles 152
Dublin 150
Dong Ket 143
Nanjing 142
Munich 125
Istanbul 121
Dearborn 115
Lancaster 79
Des Moines 65
Jinan 60
Moscow 57
St Louis 56
São Paulo 56
Ho Chi Minh City 53
Milan 53
Redondo Beach 53
Jakarta 52
London 52
San Diego 51
Shanghai 51
Dallas 50
Buffalo 49
Changsha 43
Shenyang 42
Nanchang 41
San Francisco 41
Turku 41
Rome 40
Chicago 38
Phoenix 36
Hebei 34
Council Bluffs 33
Tianjin 32
Santa Clara 30
Toronto 30
Brussels 29
Nuremberg 29
The Dalles 27
Hanoi 25
Zhengzhou 25
Tokyo 24
Washington 22
Boardman 21
Johannesburg 21
Rio de Janeiro 21
Chennai 20
Hangzhou 20
Ningbo 20
Jiaxing 19
Montreal 19
Guangzhou 18
Atlanta 17
Vienna 17
Belo Horizonte 16
Fuzhou 16
Brooklyn 15
Amsterdam 14
Boston 14
Denver 14
Turin 14
Verona 14
Frankfurt am Main 13
Haikou 13
Lanzhou 13
Manchester 13
Mexico City 13
Porto Alegre 13
Stockholm 13
Waanrode 13
Orem 12
Sydney 12
Taizhou 12
Charlotte 11
Kunming 11
Lappeenranta 11
Pune 11
Baltimore 10
Dhaka 10
Amman 9
Baghdad 9
Falkenstein 9
Falls Church 9
Totale 14.098
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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 337
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 323
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 302
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 289
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) 285
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 279
Connective tissue anomalies in patients with spontaneous cervical artery dissection. 277
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts 277
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 274
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 272
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 271
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 267
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 267
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 266
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 265
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 263
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 263
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 261
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. 260
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 245
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 243
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 240
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 240
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 225
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 217
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 217
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 217
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 213
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 208
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 202
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. 196
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 196
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 192
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 189
Complications of acute stroke and the occurrence of early seizures. 188
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 188
Arterial tortuosity in patients with spontaneous cervical artery dissection 171
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 171
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 170
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 170
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 168
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 163
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 162
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 160
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 154
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 151
COL6A5 variants in familial neuropathic chronic itch 149
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 146
Arterial tortuosity syndrome in two Italian paediatric patients. 145
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 144
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 143
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 143
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 143
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 142
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 140
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 140
ADAR therapy: a breakthrough against genetic disorders 135
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. 135
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 135
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 134
Macrophage cell cultures for rapid isolation of intracellular bacteria: the Mycobacterium bovis model 132
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 132
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 132
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 130
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 129
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. 128
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 128
L’integrina avb3 inibisce il potenziale invasivo e metastatico di cellule tumorali umane esprimenti stabilmente il peptide FN13, attraverso la disattivazione di ILK. 127
Characterization of a 13 aminoacid human fibronectin peptide induce matrix assembly and inhibiting migration and invasion in tumor cells 126
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 125
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. 125
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review 125
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis 124
Abnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene 123
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients 120
Use of a macrophage cell line for rapid detection of Mycobacterium bovis in diagnostic samples 118
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 117
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 117
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. 116
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: Further delineation of the phenotype 116
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 114
Molecular genetics and pathogenesis of Ehlers–Danlos syndrome and related connective tissue disorders 113
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 112
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 112
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain 112
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3. 111
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients 110
Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: Case report. 106
COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap 105
Modulation of the facilitative glucose transporters (SLC2A) gene family expression in arterial tortuosity syndrome skin fibroblasts and aortic vascular smooth muscle cells. 104
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 104
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 102
Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-Dietz syndrome 101
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. 101
Skeletal fragility: an emerging complication of Ehlers–Danlos syndrome 100
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA 99
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa 99
Caratterizzazione di una famiglia italiana affetta da artrogriposi distale di tipo 2B e mutazione ricorrente p.R63H nel gene TNNT3. 95
Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders. Edited by Marina Colombi and Marco Ritelli 94
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency 88
Totale 17.100
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Categoria #
all - tutte 86.322
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 86.322
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.962 0 0 0 0 181 323 138 309 285 313 199 214
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
2024/20252.853 42 20 44 432 263 240 250 94 314 209 583 362
2025/20262.799 611 694 400 720 374 0 0 0 0 0 0 0
Totale 20.036