Sfoglia per Autore
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients
2012-01-01 Ritelli, Marco Giuseppe; Venturini, Marina; Dordoni, Chiara; Chiarelli, Nicola; Zoppi, Nicoletta; Garavelli, L.; Manfredini, E.; 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
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
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
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
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
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
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
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
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
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
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type
2016-01-01 Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Dordoni, Chiara; Ritelli, Marco Giuseppe; Venturini, Marina; Castori, Marco; Colombi, Marina
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review
2016-01-01 Ciaccio, Claudia; Dordoni, Chiara; Ritelli, Marco Giuseppe; Colombi, Marina
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome
2016-01-01 Mazziotti, Gherardo; Dordoni, Chiara; Doga, M.; Galderisi, F.; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Maroldi, Roberto; Giustina, Andrea; Colombi, Marina
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes
2016-01-01 Cazzato, Daniele; Castori, Marco; Lombardi, Raffaella; Caravello, Francesca; Bella, Eleonora Dalla; Petrucci, Antonio; Grammatico, Paola; Dordoni, Chiara; Colombi, Marina; Lauria, Giuseppe
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review
2016-01-01 Dordoni, Chiara; Ciaccio, Claudia; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Ritelli, Marco Giuseppe; Colombi, Marina
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
2017-01-01 Ritelli, Marco; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Colombi, Marina
Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review
2017-01-01 Colombi, Marina; Dordoni, Chiara; Venturini, Marina; Zanca, Arianna; CALZAVARA PINTON, Piergiacomo; Ritelli, Marco Giuseppe
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients
2017-01-01 Colombi, M.; Dordoni, C.; Venturini, M.; Ciaccio, C.; Morlino, S.; Chiarelli, N.; Zanca, A.; Calzavara-Pinton, P.; Zoppi, N.; Castori, M.; Ritelli, M.
COL6A5 variants in familial neuropathic chronic itch
2017-01-01 Martinelli Boneschi, Filippo; Colombi, Marina; Castori, Marco; Devigili, Grazia; Eleopra, Roberto; Malik, Rayaz A.; Ritelli, Marco Giuseppe; Zoppi, Nicoletta; Dordoni, Chiara; Sorosina, Melissa; Grammatico, Paola; Fadavi, Hassan; Gerrits, Monique M.; Almomani, Rowida; Faber, Catharina G.; Merkies, Ingemar S. J.; Toniolo, Daniela; Cocca, Massimiliano; Doglioni, Claudio; Waxman, Stephen G.; Dib Hajj, Sulayman D.; Taiana, Michela M.; Sassone, Jenny; Lombardi, Raffaella; Cazzato, Daniele; Zauli, Andrea; Santoro, Silvia; Marchi, Margherita; Lauria, Giuseppe
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients | 1-gen-2012 | Ritelli, Marco Giuseppe; Venturini, Marina; Dordoni, Chiara; Chiarelli, Nicola; Zoppi, Nicoletta; Garavelli, L.; Manfredini, E.; 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type | 1-gen-2016 | Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Dordoni, Chiara; Ritelli, Marco Giuseppe; Venturini, Marina; Castori, Marco; Colombi, Marina | |
| Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review | 1-gen-2016 | Ciaccio, Claudia; Dordoni, Chiara; Ritelli, Marco Giuseppe; Colombi, Marina | |
| High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome | 1-gen-2016 | Mazziotti, Gherardo; Dordoni, Chiara; Doga, M.; Galderisi, F.; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Maroldi, Roberto; Giustina, Andrea; Colombi, Marina | |
| Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes | 1-gen-2016 | Cazzato, Daniele; Castori, Marco; Lombardi, Raffaella; Caravello, Francesca; Bella, Eleonora Dalla; Petrucci, Antonio; Grammatico, Paola; Dordoni, Chiara; Colombi, Marina; Lauria, Giuseppe | |
| Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review | 1-gen-2016 | Dordoni, Chiara; Ciaccio, Claudia; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Ritelli, Marco Giuseppe; Colombi, Marina | |
| Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome | 1-gen-2017 | Ritelli, Marco; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Colombi, Marina | |
| Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review | 1-gen-2017 | Colombi, Marina; Dordoni, Chiara; Venturini, Marina; Zanca, Arianna; CALZAVARA PINTON, Piergiacomo; Ritelli, Marco Giuseppe | |
| Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients | 1-gen-2017 | Colombi, M.; Dordoni, C.; Venturini, M.; Ciaccio, C.; Morlino, S.; Chiarelli, N.; Zanca, A.; Calzavara-Pinton, P.; Zoppi, N.; Castori, M.; Ritelli, M. | |
| COL6A5 variants in familial neuropathic chronic itch | 1-gen-2017 | Martinelli Boneschi, Filippo; Colombi, Marina; Castori, Marco; Devigili, Grazia; Eleopra, Roberto; Malik, Rayaz A.; Ritelli, Marco Giuseppe; Zoppi, Nicoletta; Dordoni, Chiara; Sorosina, Melissa; Grammatico, Paola; Fadavi, Hassan; Gerrits, Monique M.; Almomani, Rowida; Faber, Catharina G.; Merkies, Ingemar S. J.; Toniolo, Daniela; Cocca, Massimiliano; Doglioni, Claudio; Waxman, Stephen G.; Dib Hajj, Sulayman D.; Taiana, Michela M.; Sassone, Jenny; Lombardi, Raffaella; Cazzato, Daniele; Zauli, Andrea; Santoro, Silvia; Marchi, Margherita; Lauria, Giuseppe |
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