RITELLI, Marco Giuseppe
 Distribuzione geografica
Continente #
NA - Nord America 6.318
EU - Europa 6.151
AS - Asia 1.235
OC - Oceania 17
SA - Sud America 14
AF - Africa 5
Continente sconosciuto - Info sul continente non disponibili 5
Totale 13.745
Nazione #
US - Stati Uniti d'America 6.290
PL - Polonia 3.699
CN - Cina 761
UA - Ucraina 704
IT - Italia 525
DE - Germania 302
FR - Francia 257
HK - Hong Kong 236
GB - Regno Unito 205
FI - Finlandia 187
IE - Irlanda 146
VN - Vietnam 143
IN - India 49
BE - Belgio 35
NL - Olanda 29
CA - Canada 28
SE - Svezia 25
RU - Federazione Russa 18
AU - Australia 16
TR - Turchia 12
SG - Singapore 11
ES - Italia 8
BR - Brasile 6
EU - Europa 5
JP - Giappone 5
MU - Mauritius 5
CL - Cile 4
EC - Ecuador 3
IR - Iran 3
KR - Corea 3
AT - Austria 2
GR - Grecia 2
ID - Indonesia 2
PH - Filippine 2
BH - Bahrain 1
BY - Bielorussia 1
CH - Svizzera 1
CZ - Repubblica Ceca 1
HR - Croazia 1
IL - Israele 1
JO - Giordania 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
NZ - Nuova Zelanda 1
PE - Perù 1
PK - Pakistan 1
PT - Portogallo 1
RO - Romania 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TW - Taiwan 1
Totale 13.745
Città #
Warsaw 3.698
Fairfield 1.013
Woodbridge 653
Ashburn 581
Jacksonville 547
Houston 448
Cambridge 389
Seattle 385
Wilmington 370
Chandler 285
Princeton 269
Ann Arbor 255
Hong Kong 233
Brescia 215
New York 175
Beijing 164
Dublin 146
Dong Ket 143
Helsinki 142
Nanjing 141
Dearborn 115
Lancaster 77
Des Moines 62
Jinan 58
San Diego 49
Nanchang 40
Shenyang 40
Changsha 36
Shanghai 36
Hebei 34
London 28
Rome 28
Tianjin 25
Milan 24
Brussels 22
Phoenix 22
Zhengzhou 21
Ningbo 20
Toronto 20
Washington 20
Jiaxing 19
Fuzhou 16
Hangzhou 16
Verona 14
Boardman 13
Haikou 13
Lanzhou 13
Waanrode 13
Kunming 11
San Francisco 11
Guangzhou 10
Taizhou 10
Falls Church 9
Norwalk 9
Kilburn 8
Orange 8
Los Angeles 7
Siena 7
Lappeenranta 6
Napoli 6
Pune 6
Torino 6
Canberra 5
Kocaeli 5
Auburn Hills 4
Chiswick 4
Cutrofiano 4
Florence 4
Melbourne 4
Ottaviano 4
Redwood City 4
Taiyuan 4
Talcahuano 4
Tappahannock 4
Turin 4
Ardabil 3
Chicago 3
Cuenca 3
Falkenstein 3
Frankfurt am Main 3
Gunzenhausen 3
Honolulu 3
Indiana 3
Leawood 3
Madrid 3
Nürnberg 3
Padova 3
Palo Del Colle 3
Parma 3
San Mateo 3
Seveso 3
Simone 3
Singapore 3
Sydney 3
São Paulo 3
Acton 2
Albinea 2
Amsterdam 2
Auburn 2
Augusta 2
Totale 11.384
Nome #
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 298
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) 262
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. 258
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 253
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage 252
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection 247
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 245
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 240
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport 239
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 238
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts 238
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 229
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 226
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) 221
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 215
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. 215
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 206
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 203
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations 200
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 197
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 192
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 187
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts 184
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 181
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 178
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 169
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 167
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 160
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 160
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 155
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 147
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. 145
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 138
Complications of acute stroke and the occurrence of early seizures. 137
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 135
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 125
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 121
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 119
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 119
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 116
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. 113
Macrophage cell cultures for rapid isolation of intracellular bacteria: the Mycobacterium bovis model 111
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 110
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts 109
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. 108
Arterial tortuosity in patients with spontaneous cervical artery dissection 108
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. 106
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 106
COL6A5 variants in familial neuropathic chronic itch 105
Arterial tortuosity syndrome in two Italian paediatric patients. 104
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 102
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 101
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 100
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing 99
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 98
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. 97
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 96
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 94
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis 94
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. 92
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 92
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients 91
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: Further delineation of the phenotype 89
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review 89
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 88
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 88
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 87
Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: Case report. 86
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 86
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 84
L’integrina avb3 inibisce il potenziale invasivo e metastatico di cellule tumorali umane esprimenti stabilmente il peptide FN13, attraverso la disattivazione di ILK. 81
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 80
Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-Dietz syndrome 80
COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap 79
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain 78
Characterization of a 13 aminoacid human fibronectin peptide induce matrix assembly and inhibiting migration and invasion in tumor cells 76
Use of a macrophage cell line for rapid detection of Mycobacterium bovis in diagnostic samples 76
Skeletal fragility: an emerging complication of Ehlers–Danlos syndrome 75
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients 74
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 74
Modulation of the facilitative glucose transporters (SLC2A) gene family expression in arterial tortuosity syndrome skin fibroblasts and aortic vascular smooth muscle cells. 69
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 67
Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders. Edited by Marina Colombi and Marco Ritelli 66
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 66
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 65
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa 63
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 62
Abnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene 62
Sindrome di Ehlers-Danlos ipermobile/sindrome da ipermobilità articolare: clinica, assistenza e ricerca in Italia 61
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3. 60
Caratterizzazione di una famiglia italiana affetta da artrogriposi distale di tipo 2B e mutazione ricorrente p.R63H nel gene TNNT3. 59
Spontaneous Coronary Artery Dissection in a YoungWoman With Loeys–Dietz Syndrome 57
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. 57
Effects of IFN-alpha on the inflammatory response of swine leukocytes to bacterial endotoxin 56
Molecular genetics and pathogenesis of Ehlers–Danlos syndrome and related connective tissue disorders 56
In search of the SLC2A10 gene role in the etiopathogenesis of arterial tortuosity syndrome by transcriptomic and biochemical approaches 54
The FN13 peptide inhibits human tumor cells invasion through the modulation of alphavbeta3 integrins organization and the inactivation of ILK pathway 52
Totale 12.973
Categoria #
all - tutte 50.808
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 50.808


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019798 0 0 0 0 0 0 0 0 0 225 293 280
2019/20204.399 383 234 228 346 378 530 398 469 384 580 235 234
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
2023/20241.076 84 31 94 126 83 281 62 41 250 24 0 0
Totale 14.114