| Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers‐danlos syndrome hypermobility type compared to other heritable connective tissue disorders M Colombi, C Dordoni, N Chiarelli, M Ritelli American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2015 | 150 | 2015 |
| Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations M Ritelli, C Dordoni, M Venturini, N Chiarelli, S Quinzani, M Traversa, ... Orphanet journal of rare diseases 8, 1-19, 2013 | 149 | 2013 |
| Nosology and inheritance pattern (s) of joint hypermobility syndrome and Ehlers‐Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in … M Castori, C Dordoni, M Valiante, I Sperduti, M Ritelli, S Morlino, ... American Journal of Medical Genetics Part A 164 (12), 3010-3020, 2014 | 92 | 2014 |
| Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes N Chiarelli, M Ritelli, N Zoppi, M Colombi Genes 10 (8), 609, 2019 | 73 | 2019 |
| Connective tissue anomalies in patients with spontaneous cervical artery dissection A Giossi, M Ritelli, P Costa, A Morotti, L Poli, E Del Zotto, I Volonghi, ... Neurology 83 (22), 2032-2037, 2014 | 65 | 2014 |
| GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity … N Zoppi, N Chiarelli, V Cinquina, M Ritelli, M Colombi Human molecular genetics 24 (23), 6769-6787, 2015 | 57 | 2015 |
| Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type N Chiarelli, G Carini, N Zoppi, C Dordoni, M Ritelli, M Venturini, M Castori, ... PLoS One 11 (8), e0161347, 2016 | 56 | 2016 |
| Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility … N Zoppi, N Chiarelli, S Binetti, M Ritelli, M Colombi Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1864 (4 …, 2018 | 51 | 2018 |
| Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10missense mutations in three families with severe cardiopulmonary … M Ritelli, N Chiarelli, C Dordoni, E Reffo, M Venturini, S Quinzani, ... BMC Medical Genetics 15, 1-10, 2014 | 47 | 2014 |
| Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers‐Danlos syndrome, hypermobility type M Castori, C Dordoni, S Morlino, I Sperduti, M Ritelli, M Valiante, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2015 | 45 | 2015 |
| Glucose transporter type 10—lacking in arterial tortuosity syndrome—facilitates dehydroascorbic acid transport CE Németh, P Marcolongo, A Gamberucci, R Fulceri, A Benedetti, ... FEBS letters 590 (11), 1630-1640, 2016 | 44 | 2016 |
| 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 M Castori, M Ritelli, N Zoppi, L Molisso, N Chiarelli, F Zaccagna, ... American Journal of Medical Genetics Part A 158 (5), 1164-1169, 2012 | 44 | 2012 |
| Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives M Ritelli, M Venturini, V Cinquina, N Chiarelli, M Colombi Orphanet Journal of Rare Diseases 15, 1-18, 2020 | 43 | 2020 |
| Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos … N Chiarelli, G Carini, N Zoppi, M Ritelli, M Colombi PLoS One 13 (1), e0191220, 2018 | 43 | 2018 |
| Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome M Ritelli, V Cinquina, M Venturini, L Pezzaioli, AM Formenti, N Chiarelli, ... Genes 10 (2), 135, 2019 | 42 | 2019 |
| Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma F Faggi, N Chiarelli, M Colombi, S Mitola, R Ronca, L Madaro, M Bouche, ... Laboratory Investigation 95 (6), 585-602, 2015 | 42 | 2015 |
| Multifaced roles of the αvβ3 integrin in Ehlers–Danlos and arterial tortuosity syndromes’ dermal fibroblasts N Zoppi, N Chiarelli, M Ritelli, M Colombi International journal of molecular sciences 19 (4), 982, 2018 | 40 | 2018 |
| Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound … M Ritelli, N Chiarelli, N Zoppi, C Dordoni, S Quinzani, M Traversa, ... Molecular genetics and metabolism reports 2, 1-15, 2015 | 40 | 2015 |
| Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9compound heterozygosity G Jeannin, N Chiarelli, M Gaggiotti, M Ritelli, P Maiorca, S Quinzani, ... BMC medical genetics 15, 1-8, 2014 | 37 | 2014 |
| Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes M Ritelli, V Cinquina, E Giacopuzzi, M Venturini, N Chiarelli, M Colombi Genes 10 (9), 631, 2019 | 36 | 2019 |