Sfoglia per Autore
GLUT10 facilitates dehydroascorbic acid uptake in the endoplasmic reticulum: lessons from arterial tortuosity syndrome
2014-01-01 Németh, Ce; Marcolongo, P; Benedetti, A; Zoppi, N; Ritelli, M; Chiarelli, N; Colombi, M; Willaert, A; Coucke, Pj; Lőw, P; Gróf, P; Nagy, S; Mészáros, T; Margittai, E; Bánhegyi, G.
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
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
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing
2014-01-01 Ritelli, Marco; Chiarelli, Nicola; Quinzani, Stefano; Dordoni, Chiara; Venturini, Marina; Pezzani, Lidia; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.
2014-01-01 Jeannin, G; Chiarelli, Nicola; Gaggiotti, M; Ritelli, M; Maiorca, Paolo; Quinzani, S; Verzeletti, F; Possenti, S; Colombi, Marina; Cancarini, Giovanni
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.
2014-01-01 Castori, M; Dordoni, Chiara; Valiante, M; Sperduti, I; Ritelli, Marco Giuseppe; Morlino, S; Chiarelli, Nicola; Celletti, C; Venturini, Marina; Camerota, F; CALZAVARA PINTON, Piergiacomo; Grammatico, P; Colombi, Marina
Connective tissue anomalies in patients with spontaneous cervical artery dissection.
2014-01-01 Giossi, A.; Ritelli, M.; Costa, P.; Morotti, A.; Poli, L.; Del Zotto, E.; Volonghi, I.; Chiarelli, N.; Gamba, M.; Bovi, P.; Tomelleri, G.; Carletti, M.; Checcarelli, N.; Meneghetti, G.; Morra, M.; Chinaglia, M.; De Giuli, V.; Colombi, Marina; Padovani, Alessandro; Pezzini, Alessandro
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma
2015-01-01 Faggi, Fiorella; Chiarelli, Nicola; Colombi, Marina; Mitola, Stefania Maria Filomena; Ronca, Roberto; Madaro, Luca; Bouche’, Marina; Poliani, Pietro Luigi; Vezzoli, Marika; Longhena, Francesca; Monti, Eugenio; Salani, Barbara; Maggi, Davide; Keller, Charles; Fanzani, Alessandro
MURC/cavin-4 is co-expressed with Caveolin-3 in rhabdomyosarcoma tumors and its silencing prevents myogenic differentiation in the human embryonal RD cell line
2015-01-01 Codenotti, Silvia; Faggi, Fiorella; Poliani, Pietro Luigi; Cominelli, Manuela; Chiarelli, Nicola; Colombi, Marina; Vezzoli, Marika; Monti, Eugenio; Bono, Federica; Tulipano, Giovanni; Fiorentini, Chiara; Zanola, Alessandra; Gavazzi, Sara; Lo, Harriet; Parton, Rob; Keller, Charles; Fanzani, Alessandro
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type
2015-01-01 Ritelli, Marco Giuseppe; Chiarelli, Nicola; Zoppi, Nicoletta; Dordoni, Chiara; Quinzani, Stefano; Traversa, Michele; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
Molecular characterization and transcriptome-wide expression profiling of two patients with spondyloepimetaphyseal dysplasia with joint laxity type 1
2015-01-01 Ritelli, M; Chiarelli, N; Zoppi, N; Dordoni, C; Quinzani, S; Traversa, M; Venturini, M; Calzavara-Pinton, P; Colombi, M.
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome?
2015-01-01 Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Traversa, M.; Zoppi, Nicoletta; Giacopuzzi, Edoardo; Venturini, Marina; Facchetti, Fabio; CALZAVARA PINTON, Piergiacomo; Ritelli, Marco Giuseppe
MURC/cavin-4 is co-expressed with Caveolin-3 in rhabdomyosarcoma tumors and its silencing prevents myogenic differentiation in the human embryonal RD cell line
2015-01-01 Faggi, Fiorella; Codenotti, Silvia; Poliani, Pietro Luigi; Cominelli, Manuela; Chiarelli, Nicola; Colombi, Marina; Vezzoli, Marika; Monti, Eugenio; Bono, Federica; Tulipano, Giovanni; Fiorentini, Chiara; Zanola, Alessandra; Lo, Harriet P; Parton, Robert G; Keller, Charles; Fanzani, Alessandro
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type
2015-01-01 Castori, Marco; Dordoni, Chiara; Morlino, Silvia; Sperduti, Isabella; Ritelli, Marco Giuseppe; Valiante, Michele; Chiarelli, Nicola; Zanca, Arianna; Celletti, Claudia; Venturini, Marina; Camerota, Filippo; CALZAVARA PINTON, Piergiacomo; Grammatico, Paola; Colombi, Marina
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma.
2015-01-01 Faggi, Fiorella; Chiarelli, Nicola; Colombi, Marina; Mitola, Stefania Maria Filomena; Ronca, Roberto; Madaro, Luca; Bouche’, Marina; Poliani, Pietro Luigi; Vezzoli, Marika; Longhena, Francesca; Monti, Eugenio; Salani, Barbara; Maggi, Davide; Keller, Charles; Fanzani, Alessandro
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
2015-01-01 Zoppi, Nicoletta; Chiarelli, Nicola; Cinquina, Valeria; Ritelli, Marco Giuseppe; Colombi, Marina
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
2015-01-01 Ritelli, Marco Giuseppe; Chiarelli, Nicola; Zoppi, Nicoletta; Dordoni, Chiara; Quinzani, Stefano; Traversa, Michele; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders
2015-01-01 Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Ritelli, Marco Giuseppe
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type
2016-01-01 Carini, Giulia; Chiarelli, Nicola; Zoppi, Nicoletta; Dordoni, Chiara; Ritelli, Marco Giuseppe; Venturini, Marina; Castori, M.; Colombi, Marina
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.
2016-01-01 Chiarelli, Nicola; Ritelli, Marco Giuseppe; Carini, Giulia; Cinquina, Valeria; Colombi, Marina; Zoppi, Nicoletta
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| GLUT10 facilitates dehydroascorbic acid uptake in the endoplasmic reticulum: lessons from arterial tortuosity syndrome | 1-gen-2014 | Németh, Ce; Marcolongo, P; Benedetti, A; Zoppi, N; Ritelli, M; Chiarelli, N; Colombi, M; Willaert, A; Coucke, Pj; Lőw, P; Gróf, P; Nagy, S; Mészáros, T; Margittai, E; Bánhegyi, G. | |
| 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 | |
| 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 | |
| Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing | 1-gen-2014 | Ritelli, Marco; Chiarelli, Nicola; Quinzani, Stefano; Dordoni, Chiara; Venturini, Marina; Pezzani, Lidia; CALZAVARA PINTON, Piergiacomo; Colombi, Marina | |
| Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. | 1-gen-2014 | Jeannin, G; Chiarelli, Nicola; Gaggiotti, M; Ritelli, M; Maiorca, Paolo; Quinzani, S; Verzeletti, F; Possenti, S; Colombi, Marina; Cancarini, Giovanni | |
| 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. | 1-gen-2014 | Castori, M; Dordoni, Chiara; Valiante, M; Sperduti, I; Ritelli, Marco Giuseppe; Morlino, S; Chiarelli, Nicola; Celletti, C; Venturini, Marina; Camerota, F; CALZAVARA PINTON, Piergiacomo; Grammatico, P; Colombi, Marina | |
| Connective tissue anomalies in patients with spontaneous cervical artery dissection. | 1-gen-2014 | Giossi, A.; Ritelli, M.; Costa, P.; Morotti, A.; Poli, L.; Del Zotto, E.; Volonghi, I.; Chiarelli, N.; Gamba, M.; Bovi, P.; Tomelleri, G.; Carletti, M.; Checcarelli, N.; Meneghetti, G.; Morra, M.; Chinaglia, M.; De Giuli, V.; Colombi, Marina; Padovani, Alessandro; Pezzini, Alessandro | |
| Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma | 1-gen-2015 | Faggi, Fiorella; Chiarelli, Nicola; Colombi, Marina; Mitola, Stefania Maria Filomena; Ronca, Roberto; Madaro, Luca; Bouche’, Marina; Poliani, Pietro Luigi; Vezzoli, Marika; Longhena, Francesca; Monti, Eugenio; Salani, Barbara; Maggi, Davide; Keller, Charles; Fanzani, Alessandro | |
| MURC/cavin-4 is co-expressed with Caveolin-3 in rhabdomyosarcoma tumors and its silencing prevents myogenic differentiation in the human embryonal RD cell line | 1-gen-2015 | Codenotti, Silvia; Faggi, Fiorella; Poliani, Pietro Luigi; Cominelli, Manuela; Chiarelli, Nicola; Colombi, Marina; Vezzoli, Marika; Monti, Eugenio; Bono, Federica; Tulipano, Giovanni; Fiorentini, Chiara; Zanola, Alessandra; Gavazzi, Sara; Lo, Harriet; Parton, Rob; Keller, Charles; Fanzani, Alessandro | |
| Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type | 1-gen-2015 | Ritelli, Marco Giuseppe; Chiarelli, Nicola; Zoppi, Nicoletta; Dordoni, Chiara; Quinzani, Stefano; Traversa, Michele; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Colombi, Marina | |
| Molecular characterization and transcriptome-wide expression profiling of two patients with spondyloepimetaphyseal dysplasia with joint laxity type 1 | 1-gen-2015 | Ritelli, M; Chiarelli, N; Zoppi, N; Dordoni, C; Quinzani, S; Traversa, M; Venturini, M; Calzavara-Pinton, P; Colombi, M. | |
| Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? | 1-gen-2015 | Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Traversa, M.; Zoppi, Nicoletta; Giacopuzzi, Edoardo; Venturini, Marina; Facchetti, Fabio; CALZAVARA PINTON, Piergiacomo; Ritelli, Marco Giuseppe | |
| MURC/cavin-4 is co-expressed with Caveolin-3 in rhabdomyosarcoma tumors and its silencing prevents myogenic differentiation in the human embryonal RD cell line | 1-gen-2015 | Faggi, Fiorella; Codenotti, Silvia; Poliani, Pietro Luigi; Cominelli, Manuela; Chiarelli, Nicola; Colombi, Marina; Vezzoli, Marika; Monti, Eugenio; Bono, Federica; Tulipano, Giovanni; Fiorentini, Chiara; Zanola, Alessandra; Lo, Harriet P; Parton, Robert G; Keller, Charles; Fanzani, Alessandro | |
| Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type | 1-gen-2015 | Castori, Marco; Dordoni, Chiara; Morlino, Silvia; Sperduti, Isabella; Ritelli, Marco Giuseppe; Valiante, Michele; Chiarelli, Nicola; Zanca, Arianna; Celletti, Claudia; Venturini, Marina; Camerota, Filippo; CALZAVARA PINTON, Piergiacomo; Grammatico, Paola; Colombi, Marina | |
| Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. | 1-gen-2015 | Faggi, Fiorella; Chiarelli, Nicola; Colombi, Marina; Mitola, Stefania Maria Filomena; Ronca, Roberto; Madaro, Luca; Bouche’, Marina; Poliani, Pietro Luigi; Vezzoli, Marika; Longhena, Francesca; Monti, Eugenio; Salani, Barbara; Maggi, Davide; Keller, Charles; Fanzani, Alessandro | |
| 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 | 1-gen-2015 | Zoppi, Nicoletta; Chiarelli, Nicola; Cinquina, Valeria; Ritelli, Marco Giuseppe; Colombi, Marina | |
| 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 | 1-gen-2015 | Ritelli, Marco Giuseppe; Chiarelli, Nicola; Zoppi, Nicoletta; Dordoni, Chiara; Quinzani, Stefano; Traversa, Michele; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Colombi, Marina | |
| Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders | 1-gen-2015 | Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Ritelli, Marco Giuseppe | |
| Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type | 1-gen-2016 | Carini, Giulia; Chiarelli, Nicola; Zoppi, Nicoletta; Dordoni, Chiara; Ritelli, Marco Giuseppe; Venturini, Marina; Castori, M.; Colombi, Marina | |
| 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. | 1-gen-2016 | Chiarelli, Nicola; Ritelli, Marco Giuseppe; Carini, Giulia; Cinquina, Valeria; Colombi, Marina; Zoppi, Nicoletta |
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