RITELLI, Marco Giuseppe
RITELLI, Marco Giuseppe
Dipartimento di Medicina Molecolare e Traslazionale
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing
2018-01-01 Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia
2016-01-01 Windpessl, Martin; Ritelli, Marco Giuseppe; Wallner, Manfred; Colombi, Marina
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder
2018-01-01 Morlino, Silvia; Castori, Marco; Dordoni, Chiara; Cinquina, Valeria; Santoro, Graziano; Grammatico, Paola; Venturini, Marina; Colombi, Marina; Ritelli, Marco
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations
2018-01-01 Ritelli, Marco Giuseppe; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'Angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco
Abnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene
2020-01-01 Khatri, D; Mignani, L; Zizioli, D; Ritelli, M; Monti, E; Finazzi, D
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients
2019-01-01 Angwin, C.; Brady, A. F.; Colombi, M.; Ferguson, D. J. P.; Pollitt, R.; Pope, F. M.; Ritelli, M.; Symoens, S.; Ghali, N.; Van Dijk, F. S.
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
2012-01-01 Castori, M.; Ritelli, Marco Giuseppe; Zoppi, Nicoletta; Molisso, L.; Chiarelli, Nicola; Zaccagna, F.; Grammatico, P.; Colombi, Marina
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.
2011-01-01 Ritelli, M; Castori, M; Zoppi, N; Chiarelli, N; Molosso, L; Zaccagna, F; Grammatico, P; Colombi, M.
Age-dependent effect of susceptibility factors on the risk of intracerebral haemorrhage: Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy)
2021-01-01 Locatelli, M.; Grassi, M.; Saba, V.; Iacovello, L.; Di Castelnuovo, A.; De Gaetano, G.; Zedde, M.; Marcheselli, S.; Silvestrelli, G.; Ciccone, A.; Delodovici, M. L.; Princiotta Cariddi, L.; Giossi, A.; Zini, A.; Paciaroni, M.; Acciarresi, M.; Azzini, C.; De Vito, A.; Gamba, M.; Magoni, M.; Del Sette, M.; Toriello, A.; Gandolfo, C.; Finocchi, C.; Bonifati, D. M.; Tassi, R.; Martini, G.; Cavallini, A.; Morotti, A.; Bonacina, S.; Mazzoleni, V.; Pezzini, D.; Chiti, A.; Calabro, R. S.; Musolino, R.; La Spina, P.; Grillo, F.; Tomelleri, G.; Lodigiani, C.; Ritelli, M.; Colombi, M.; Padovani, A.; Pezzini, A.
Alcohol intake and the risk of intracerebral hemorrhage in the elderly: The MUCH-Italy
2018-01-01 Costa, P.; Grassi, M.; Iacoviello, L.; Zedde, M.; Marcheselli, S.; Silvestrelli, G.; Delodovici, M. L.; Sessa, M.; Zini, A.; Paciaroni, M.; Azzini, C.; Gamba, M.; Del Sette, M.; Toriello, A.; Gandolfo, C.; Bonifati, D. M.; Tassi, R.; Cavallini, A.; Chiti, A.; Calabro, R. S.; Grillo, F.; Bovi, P.; Tomelleri, G.; Di Castelnuovo, A.; Ritelli, M.; Agnelli, G.; De Vito, A.; Pugliese, N.; Martini, G.; Lodigiani, C.; Morotti, A.; Poli, L.; Degiuli, V.; Caria, F.; Cornali, C.; Degaetano, G.; Colombi, M.; Padovani, A.; Pezzini, A.
Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy)
2018-01-01 Poli, Loris; Grassi, Mario; Zedde, Marialuisa; Marcheselli, Simona; Silvestrelli, Giorgio; Sessa, Maria; Zini, Andrea; Paciaroni, Maurizio; Azzini, Cristiano; Gamba, Massimo; Toriello, Antonella; Tassi, Rossana; Giorli, Elisa; Calabrò, Rocco Salvatore; Ritelli, Marco; de Vito, Alessandro; Pugliese, Nicola; Martini, Giuseppe; Lanari, Alessia; Lodigiani, Corrado; Padroni, Marina; de Giuli, Valeria; Caria, Filomena; Morotti, Andrea; Costa, Paolo; Strambo, Davide; Corato, Manuel; Pascarella, Rosario; Del Sette, Massimo; Malferrari, Giovanni; Colombi, Marina; Padovani, Alessandro; Pezzini, Alessandro
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy.
2014-01-01 Pezzini, Alessandro; Grassi, M; Paciaroni, M; Zini, A; Silvestrelli, G; Del Zotto, E; Caso, V; Dell'Acqua, Ml; Giossi, A; Volonghi, I; Simone, Am; Lanari, A; Costa, P; Poli, L; Morotti, A; De Giuli, V; Pepe, D; Gamba, M; Ciccone, A; Ritelli, M; Colombi, Marina; Agnelli, G; Padovani, Alessandro
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.
2015-01-01 Pieroni, A; Castori, M; Caso, P; Di Bernardini, E; De Michele, M; Ritelli, Marco Giuseppe; Colombi, Marina; Toni, D.
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6)
2016-01-01 Parisi, R; Goffi, L; Ritelli, Marco Giuseppe; Marinucci, L; Secco, Gg; Uguccioni, L; Cocco, G; Colombi, Marina; Fattori, R.
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology
2020-01-01 Ritelli, Marco; Rovati, Chiara; Venturini, Marina; Chiarelli, Nicola; Cinquina, Valeria; Castori, Marco; Colombi, Marina
Arterial tortuosity in patients with spontaneous cervical artery dissection
2017-01-01 Giossi, Alessia; Mardighian, Dikran; Caria, Filomena; Poli, Loris; DE GIULI, Valeria; Costa, Paolo; Morotti, Andrea; Gamba, Massimo; Gilberti, Nicola; Ritelli, Marco Giuseppe; Colombi, Marina; Sessa, Maria; Grassi, Mario; Padovani, Alessandro; Gasparotti, Roberto; Pezzini, Alessandro
Arterial tortuosity syndrome in two Italian paediatric patients.
2009-01-01 Ritelli, Marco Giuseppe; Drera, B; Vicchio, M; Puppini, G; Biban, P; Pilati, M; Prioli, Ma; Barlati, Sergio; Colombi, Marina
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease?
2017-01-01 Zoppi, Nicoletta; Chiarelli, Nicola; Ritelli, Marco Giuseppe; Marcolongo, P.; Gamberucci, A.; Benedetti, A.; Németh, C. E.; Bánhegyi, G.; Colombi, Marina
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.
2014-01-01 Ritelli, Marco Giuseppe; Chiarelli, Nicola; Dordoni, Chiara; Reffo, E; Venturini, Marina; Quinzani, Stefano; Monica, M; Scarano, G; Santoro, G; Russo, M; CALZAVARA PINTON, Piergiacomo; Milanesi, O; Colombi, Marina
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
2022-01-01 Colman, Marlies; Castori, Marco; Micale, Lucia; Ritelli, Marco; Colombi, Marina; Ghali, Neeti; Van Dijk, Fleur; Marsili, Luisa; Weeks, Adrienne; Vandersteen, Anthony; Rideout, Andrea; Legrand, Anne; Frank, Michael; Mirault, Tristan; Ferraris, Alessandro; Di Giosaffatte, Niccolò; Grammatico, Paola; Grunert, Juergen; Frank, Charissa; Symoens, Sofie; Syx, Delfien; Malfait, Fransiska
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing | 1-gen-2018 | Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco | |
| A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia | 1-gen-2016 | Windpessl, Martin; Ritelli, Marco Giuseppe; Wallner, Manfred; Colombi, Marina | |
| A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder | 1-gen-2018 | Morlino, Silvia; Castori, Marco; Dordoni, Chiara; Cinquina, Valeria; Santoro, Graziano; Grammatico, Paola; Venturini, Marina; Colombi, Marina; Ritelli, Marco | |
| A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations | 1-gen-2018 | Ritelli, Marco Giuseppe; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'Angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco | |
| Abnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene | 1-gen-2020 | Khatri, D; Mignani, L; Zizioli, D; Ritelli, M; Monti, E; Finazzi, D | |
| Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients | 1-gen-2019 | Angwin, C.; Brady, A. F.; Colombi, M.; Ferguson, D. J. P.; Pollitt, R.; Pope, F. M.; Ritelli, M.; Symoens, S.; Ghali, N.; Van Dijk, F. S. | |
| 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 | 1-gen-2012 | Castori, M.; Ritelli, Marco Giuseppe; Zoppi, Nicoletta; Molisso, L.; Chiarelli, Nicola; Zaccagna, F.; Grammatico, P.; Colombi, Marina | |
| 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. | 1-gen-2011 | Ritelli, M; Castori, M; Zoppi, N; Chiarelli, N; Molosso, L; Zaccagna, F; Grammatico, P; Colombi, M. | |
| Age-dependent effect of susceptibility factors on the risk of intracerebral haemorrhage: Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) | 1-gen-2021 | Locatelli, M.; Grassi, M.; Saba, V.; Iacovello, L.; Di Castelnuovo, A.; De Gaetano, G.; Zedde, M.; Marcheselli, S.; Silvestrelli, G.; Ciccone, A.; Delodovici, M. L.; Princiotta Cariddi, L.; Giossi, A.; Zini, A.; Paciaroni, M.; Acciarresi, M.; Azzini, C.; De Vito, A.; Gamba, M.; Magoni, M.; Del Sette, M.; Toriello, A.; Gandolfo, C.; Finocchi, C.; Bonifati, D. M.; Tassi, R.; Martini, G.; Cavallini, A.; Morotti, A.; Bonacina, S.; Mazzoleni, V.; Pezzini, D.; Chiti, A.; Calabro, R. S.; Musolino, R.; La Spina, P.; Grillo, F.; Tomelleri, G.; Lodigiani, C.; Ritelli, M.; Colombi, M.; Padovani, A.; Pezzini, A. | |
| Alcohol intake and the risk of intracerebral hemorrhage in the elderly: The MUCH-Italy | 1-gen-2018 | Costa, P.; Grassi, M.; Iacoviello, L.; Zedde, M.; Marcheselli, S.; Silvestrelli, G.; Delodovici, M. L.; Sessa, M.; Zini, A.; Paciaroni, M.; Azzini, C.; Gamba, M.; Del Sette, M.; Toriello, A.; Gandolfo, C.; Bonifati, D. M.; Tassi, R.; Cavallini, A.; Chiti, A.; Calabro, R. S.; Grillo, F.; Bovi, P.; Tomelleri, G.; Di Castelnuovo, A.; Ritelli, M.; Agnelli, G.; De Vito, A.; Pugliese, N.; Martini, G.; Lodigiani, C.; Morotti, A.; Poli, L.; Degiuli, V.; Caria, F.; Cornali, C.; Degaetano, G.; Colombi, M.; Padovani, A.; Pezzini, A. | |
| Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) | 1-gen-2018 | Poli, Loris; Grassi, Mario; Zedde, Marialuisa; Marcheselli, Simona; Silvestrelli, Giorgio; Sessa, Maria; Zini, Andrea; Paciaroni, Maurizio; Azzini, Cristiano; Gamba, Massimo; Toriello, Antonella; Tassi, Rossana; Giorli, Elisa; Calabrò, Rocco Salvatore; Ritelli, Marco; de Vito, Alessandro; Pugliese, Nicola; Martini, Giuseppe; Lanari, Alessia; Lodigiani, Corrado; Padroni, Marina; de Giuli, Valeria; Caria, Filomena; Morotti, Andrea; Costa, Paolo; Strambo, Davide; Corato, Manuel; Pascarella, Rosario; Del Sette, Massimo; Malferrari, Giovanni; Colombi, Marina; Padovani, Alessandro; Pezzini, Alessandro | |
| Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy. | 1-gen-2014 | Pezzini, Alessandro; Grassi, M; Paciaroni, M; Zini, A; Silvestrelli, G; Del Zotto, E; Caso, V; Dell'Acqua, Ml; Giossi, A; Volonghi, I; Simone, Am; Lanari, A; Costa, P; Poli, L; Morotti, A; De Giuli, V; Pepe, D; Gamba, M; Ciccone, A; Ritelli, M; Colombi, Marina; Agnelli, G; Padovani, Alessandro | |
| Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. | 1-gen-2015 | Pieroni, A; Castori, M; Caso, P; Di Bernardini, E; De Michele, M; Ritelli, Marco Giuseppe; Colombi, Marina; Toni, D. | |
| Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6) | 1-gen-2016 | Parisi, R; Goffi, L; Ritelli, Marco Giuseppe; Marinucci, L; Secco, Gg; Uguccioni, L; Cocco, G; Colombi, Marina; Fattori, R. | |
| Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology | 1-gen-2020 | Ritelli, Marco; Rovati, Chiara; Venturini, Marina; Chiarelli, Nicola; Cinquina, Valeria; Castori, Marco; Colombi, Marina | |
| Arterial tortuosity in patients with spontaneous cervical artery dissection | 1-gen-2017 | Giossi, Alessia; Mardighian, Dikran; Caria, Filomena; Poli, Loris; DE GIULI, Valeria; Costa, Paolo; Morotti, Andrea; Gamba, Massimo; Gilberti, Nicola; Ritelli, Marco Giuseppe; Colombi, Marina; Sessa, Maria; Grassi, Mario; Padovani, Alessandro; Gasparotti, Roberto; Pezzini, Alessandro | |
| Arterial tortuosity syndrome in two Italian paediatric patients. | 1-gen-2009 | Ritelli, Marco Giuseppe; Drera, B; Vicchio, M; Puppini, G; Biban, P; Pilati, M; Prioli, Ma; Barlati, Sergio; Colombi, Marina | |
| Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? | 1-gen-2017 | Zoppi, Nicoletta; Chiarelli, Nicola; Ritelli, Marco Giuseppe; Marcolongo, P.; Gamberucci, A.; Benedetti, A.; Németh, C. E.; Bánhegyi, G.; Colombi, Marina | |
| 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. | 1-gen-2014 | Ritelli, Marco Giuseppe; Chiarelli, Nicola; Dordoni, Chiara; Reffo, E; Venturini, Marina; Quinzani, Stefano; Monica, M; Scarano, G; Santoro, G; Russo, M; CALZAVARA PINTON, Piergiacomo; Milanesi, O; Colombi, Marina | |
| 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 | 1-gen-2022 | Colman, Marlies; Castori, Marco; Micale, Lucia; Ritelli, Marco; Colombi, Marina; Ghali, Neeti; Van Dijk, Fleur; Marsili, Luisa; Weeks, Adrienne; Vandersteen, Anthony; Rideout, Andrea; Legrand, Anne; Frank, Michael; Mirault, Tristan; Ferraris, Alessandro; Di Giosaffatte, Niccolò; Grammatico, Paola; Grunert, Juergen; Frank, Charissa; Symoens, Sofie; Syx, Delfien; Malfait, Fransiska |