Sfoglia per Autore
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome?
2013-01-01 Salvi, Alessandro; Cinquina, Valeria; Chiarelli, Nicola; Ritelli, Marco Giuseppe; Zoppi, Nicoletta; DE PETRO, Giuseppina; Colombi, Marina
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3.
2013-01-01 Gigante, L; Brancati, F; Sangiuolo, Fc; Ritelli, M; Chiarelli, N; Colombi, M.
Characterization of a 24-year-old woman with osteogenesis imperfecta/Ehlers-Danlos syndrome overlapping phenotype due to the novel c.3469_3470del mutation in the COL1A1 gene.
2013-01-01 Ritelli, M; Castori, M; Chiarelli, N; Grammatico, P; Colombi, M.
In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by gene expression analysis.
2013-01-01 Chiarelli, N; Zoppi, N; Ritelli, M; Colombi, M.
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa
2013-01-01 Ritelli, Marco Giuseppe; Chiarelli, Nicola; Quinzani, Stefano; Dordoni, Chiara; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
Complications of acute stroke and the occurrence of early seizures.
2013-01-01 Pezzini, Alessandro; Grassi, M; DEL ZOTTO, Elisabetta; Giossi, Alessia Alberica; Volonghi, Irene; Costa, Paolo; Poli, Loris; Morotti, Andrea; Gamba, M; Ritelli, Marco Giuseppe; Colombi, Marina; Padovani, Alessandro
In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by transcriptomic and biochemical approaches. XV
2013-01-01 Zoppi, N; Chiarelli, N; Ritelli, M; Colombi, M.
Sindrome di Ehlers-Danlos ipermobile/sindrome da ipermobilità articolare: clinica, assistenza e ricerca in Italia
2013-01-01 Castori, M; Ritelli, M; Morlino, S; Celletti, C; Chiarelli, N; Dordoni, C; Bruschini, M; Blundo, C; Camerota, F; Colombi, M; Grammatico, P.
Un caso paradigmatico di Sindrome di Marfan con una nuova mutazione nel gene FBN1.
2013-01-01 Guarnaccia, F; Ritelli, M; Chiarelli, N; Colombi, M; Mattina, T.
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: Further delineation of the phenotype
2013-01-01 Wischmeijer, A.; Van Laer, L.; Tortora, G.; Bolar, N. A.; Van Camp, G.; Fransen, E.; Peeters, N.; di Bartolomeo, R.; Pacini, D.; Gargiulo, G.; Turci, S; Bonvicini, M; Mariucci, E; Lovato, L; Brusori, S; Ritelli, Marco Giuseppe; Colombi, Marina; Garavelli, L.; Seri, M.; Loeys, B. L.
Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy.
2013-01-01 Pezzini, Alessandro; Grassi, M; Paciaroni, M; Zini, A; Silvestrelli, G; Iacoviello, L; Di Castelnuovo, A; Del Zotto, E; Caso, V; Nichelli, Pf; Giossi, A; Volonghi, I; Simone, Am; Lanari, A; Costa, P; Poli, L; Pentore, R; Falzone, F; Gamba, M; Morotti, A; Ciccone, A; Ritelli, M; Guido, D; Colombi, Marina; De Gaetano, G; Agnelli, G; Padovani, Alessandro
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type
2013-01-01 Dordoni, Chiara; Ritelli, Marco Giuseppe; Venturini, Marina; Chiarelli, Nicola; Pezzani, Lidia; Vascellaro, Annalisa; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
Exome sequencing allows for the rapid identification of two novel ATP6V0A2 mutations in an infant with cutis laxa.
2013-01-01 Ritelli, M; Dordoni, C; Quinzani, S; Venturini, M; Chiarelli, N; Pezzani, L; Calzavara-Pinton, P; Colombi, M.
Le sindromi di Ehlers-Danlos
2013-01-01 Colombi, M; Venturini, M; Ritelli, M; Dordoni, C; Chiarelli, N; Quinzani, S; Pezzani, L; Vascellaro, A; Zoppi, N; Calzavara-Pinton, P.
Clinical and molecular characterization of a family with LDS type IV: identification of the first TGFB2 splice mutation.
2013-01-01 Dordoni, C; Ritelli, M; Quinzani, S; Chiarelli, N; Pezzani, L; Venturini, M; Calzavara-Pinton, P; Colombi, M.
Characterization of two families with Arterial Tortuosity Syndrome with homozygosity for a novel and a recurrent missense mutations in SLC2A10 gene.
2013-01-01 Dordoni, C; Ritelli, M; Chiarelli, N; Quinzani, S; Pezzani, L; Venturini, M; Calzavara-Pinton, P; Reffo, E; Milanesi, O; Colombi, M.
In search of the SLC2A10 gene role in the etiopathogenesis of arterial tortuosity syndrome by transcriptomic and biochemical approaches
2013-01-01 Zoppi, Nicoletta; Chiarelli, Nicola; Ritelli, Marco Giuseppe; Colombi, Marina
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
2013-01-01 Ritelli, Marco Giuseppe; Dordoni, Chiara; Venturini, Marina; Chiarelli, Nicola; Quinzani, Stefano; Traversa, Michele; Zoppi, Nicoletta; Vascellaro, Annalisa; Wischmeijer, A.; Manfredini, E.; Garavelli, L.; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
Further delineation of Loeys-Dietz syndrome type IV in a family with mild vascular involvement and a TGFB2 splicing mutation
2014-01-01 Ritelli, M; Chiarelli, N; Dordoni, C; Quinzani, S; Venturini, M; Maroldi, R; Calzavara-Pinton, P; Colombi, M.
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
2014-01-01 Ritelli, M.; Chiarelli, Nicola; Dordoni, C.; Quinzani, S.; Venturini, Marina; Maroldi, Roberto; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? | 1-gen-2013 | Salvi, Alessandro; Cinquina, Valeria; Chiarelli, Nicola; Ritelli, Marco Giuseppe; Zoppi, Nicoletta; DE PETRO, Giuseppina; Colombi, Marina | |
| Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3. | 1-gen-2013 | Gigante, L; Brancati, F; Sangiuolo, Fc; Ritelli, M; Chiarelli, N; Colombi, M. | |
| Characterization of a 24-year-old woman with osteogenesis imperfecta/Ehlers-Danlos syndrome overlapping phenotype due to the novel c.3469_3470del mutation in the COL1A1 gene. | 1-gen-2013 | Ritelli, M; Castori, M; Chiarelli, N; Grammatico, P; Colombi, M. | |
| In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by gene expression analysis. | 1-gen-2013 | Chiarelli, N; Zoppi, N; Ritelli, M; Colombi, M. | |
| Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa | 1-gen-2013 | Ritelli, Marco Giuseppe; Chiarelli, Nicola; Quinzani, Stefano; Dordoni, Chiara; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Colombi, Marina | |
| Complications of acute stroke and the occurrence of early seizures. | 1-gen-2013 | Pezzini, Alessandro; Grassi, M; DEL ZOTTO, Elisabetta; Giossi, Alessia Alberica; Volonghi, Irene; Costa, Paolo; Poli, Loris; Morotti, Andrea; Gamba, M; Ritelli, Marco Giuseppe; Colombi, Marina; Padovani, Alessandro | |
| In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by transcriptomic and biochemical approaches. XV | 1-gen-2013 | Zoppi, N; Chiarelli, N; Ritelli, M; Colombi, M. | |
| Sindrome di Ehlers-Danlos ipermobile/sindrome da ipermobilità articolare: clinica, assistenza e ricerca in Italia | 1-gen-2013 | Castori, M; Ritelli, M; Morlino, S; Celletti, C; Chiarelli, N; Dordoni, C; Bruschini, M; Blundo, C; Camerota, F; Colombi, M; Grammatico, P. | |
| Un caso paradigmatico di Sindrome di Marfan con una nuova mutazione nel gene FBN1. | 1-gen-2013 | Guarnaccia, F; Ritelli, M; Chiarelli, N; Colombi, M; Mattina, T. | |
| Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: Further delineation of the phenotype | 1-gen-2013 | Wischmeijer, A.; Van Laer, L.; Tortora, G.; Bolar, N. A.; Van Camp, G.; Fransen, E.; Peeters, N.; di Bartolomeo, R.; Pacini, D.; Gargiulo, G.; Turci, S; Bonvicini, M; Mariucci, E; Lovato, L; Brusori, S; Ritelli, Marco Giuseppe; Colombi, Marina; Garavelli, L.; Seri, M.; Loeys, B. L. | |
| Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy. | 1-gen-2013 | Pezzini, Alessandro; Grassi, M; Paciaroni, M; Zini, A; Silvestrelli, G; Iacoviello, L; Di Castelnuovo, A; Del Zotto, E; Caso, V; Nichelli, Pf; Giossi, A; Volonghi, I; Simone, Am; Lanari, A; Costa, P; Poli, L; Pentore, R; Falzone, F; Gamba, M; Morotti, A; Ciccone, A; Ritelli, M; Guido, D; Colombi, Marina; De Gaetano, G; Agnelli, G; Padovani, Alessandro | |
| Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type | 1-gen-2013 | Dordoni, Chiara; Ritelli, Marco Giuseppe; Venturini, Marina; Chiarelli, Nicola; Pezzani, Lidia; Vascellaro, Annalisa; CALZAVARA PINTON, Piergiacomo; Colombi, Marina | |
| Exome sequencing allows for the rapid identification of two novel ATP6V0A2 mutations in an infant with cutis laxa. | 1-gen-2013 | Ritelli, M; Dordoni, C; Quinzani, S; Venturini, M; Chiarelli, N; Pezzani, L; Calzavara-Pinton, P; Colombi, M. | |
| Le sindromi di Ehlers-Danlos | 1-gen-2013 | Colombi, M; Venturini, M; Ritelli, M; Dordoni, C; Chiarelli, N; Quinzani, S; Pezzani, L; Vascellaro, A; Zoppi, N; Calzavara-Pinton, P. | |
| Clinical and molecular characterization of a family with LDS type IV: identification of the first TGFB2 splice mutation. | 1-gen-2013 | Dordoni, C; Ritelli, M; Quinzani, S; Chiarelli, N; Pezzani, L; Venturini, M; Calzavara-Pinton, P; Colombi, M. | |
| Characterization of two families with Arterial Tortuosity Syndrome with homozygosity for a novel and a recurrent missense mutations in SLC2A10 gene. | 1-gen-2013 | Dordoni, C; Ritelli, M; Chiarelli, N; Quinzani, S; Pezzani, L; Venturini, M; Calzavara-Pinton, P; Reffo, E; Milanesi, O; Colombi, M. | |
| In search of the SLC2A10 gene role in the etiopathogenesis of arterial tortuosity syndrome by transcriptomic and biochemical approaches | 1-gen-2013 | Zoppi, Nicoletta; Chiarelli, Nicola; Ritelli, Marco Giuseppe; Colombi, Marina | |
| Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. | 1-gen-2013 | Ritelli, Marco Giuseppe; Dordoni, Chiara; Venturini, Marina; Chiarelli, Nicola; Quinzani, Stefano; Traversa, Michele; Zoppi, Nicoletta; Vascellaro, Annalisa; Wischmeijer, A.; Manfredini, E.; Garavelli, L.; CALZAVARA PINTON, Piergiacomo; Colombi, Marina | |
| Further delineation of Loeys-Dietz syndrome type IV in a family with mild vascular involvement and a TGFB2 splicing mutation | 1-gen-2014 | Ritelli, M; Chiarelli, N; Dordoni, C; Quinzani, S; Venturini, M; Maroldi, R; Calzavara-Pinton, P; Colombi, M. | |
| Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. | 1-gen-2014 | Ritelli, M.; Chiarelli, Nicola; Dordoni, C.; Quinzani, S.; Venturini, Marina; Maroldi, Roberto; CALZAVARA PINTON, Piergiacomo; Colombi, Marina |
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