Sfoglia per Autore
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa.
2012-01-01 Ritelli, M; Chiarelli, N; Quinzani, S; Dordoni, C; Venturini, M; Calzavara-Pinton, P; Colombi, M.
Diagnosi prenatale per sindrome delle arterie tortuose: identificazione di una nuova mutazione nel gene SLC2A10 in corso di gravidanza a rischio.
2012-01-01 Della Monica, M; Ritelli, M; Chiarelli, N; Acquaviva, F; Pinelli, M; Colombi, M.
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz.
2012-01-01 Morlino, S; Castori, M; Ritelli, M; Radio, Fc; Valiante, M; Chiarelli, N; Colombi, M; Morrone, A; Grammatico, P.
Clinical evaluation of 80 Ehlers-Danlos syndrome hypermobility type patients
2012-01-01 Venturini, M; Dordoni, C; Ritelli, M; Chiarelli, N; Vascellaro, A; Calzavara-Pinton, P; Colombi, M.
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.
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
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.
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
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.
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
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.
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.
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.
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.
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.
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
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
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.
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.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa. | 1-gen-2012 | Ritelli, M; Chiarelli, N; Quinzani, S; Dordoni, C; Venturini, M; Calzavara-Pinton, P; Colombi, M. | |
Diagnosi prenatale per sindrome delle arterie tortuose: identificazione di una nuova mutazione nel gene SLC2A10 in corso di gravidanza a rischio. | 1-gen-2012 | Della Monica, M; Ritelli, M; Chiarelli, N; Acquaviva, F; Pinelli, M; Colombi, M. | |
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz. | 1-gen-2012 | Morlino, S; Castori, M; Ritelli, M; Radio, Fc; Valiante, M; Chiarelli, N; Colombi, M; Morrone, A; Grammatico, P. | |
Clinical evaluation of 80 Ehlers-Danlos syndrome hypermobility type patients | 1-gen-2012 | Venturini, M; Dordoni, C; Ritelli, M; Chiarelli, N; Vascellaro, A; Calzavara-Pinton, P; Colombi, M. | |
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. | |
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 | |
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. | |
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 | |
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. | |
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 | |
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. | |
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. | |
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. | |
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. | |
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. | |
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 | |
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 | |
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. | |
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. |
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