Cinquina, Valeria
Cinquina, Valeria
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 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
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
Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker
2024-01-01 Ritelli, M.; Chiarelli, N.; Cinquina, V.; Bertini, V.; Piantoni, S.; Caproli, A.; Della Pina, S.; Franceschini, F.; Zarattini, G.; Gandy, W.; Venturini, M.; Zoppi, N.; Colombi, M.
Cannabidiol administration after hypoxia-ischemia to newborn rats reduces long-term brain injury and restores neurobehavioral function
2012-01-01 Pazos, M. R.; Cinquina, V.; Gomez, A.; Layunta, R.; Santos, M.; Fernandez-Ruiz, J.; Martinez-Orgado, J.
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity
2018-01-01 Dordoni, Chiara; Gatti, Marta; Venturini, Marina; Zanca, Arianna; Cinquina, Valeria; Santoro, Graziano; Battocchio, Simonetta; Calzavara-Pinton, Piergiacomo; Ritelli, Marco; Colombi, Marina
Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review
2019-01-01 Ritelli, Marco; Cammarata-Scalisi, Francisco; Cinquina, Valeria; Colombi, Marina
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant
2019-01-01 Rymen, Daisy; Ritelli, Marco; Zoppi, Nicoletta; Cinquina, Valeria; Giunta, Cecilia; Rohrbach, Marianne; Colombi, Marina
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts
2024-01-01 Chiarelli, N.; Cinquina, V.; Martini, P.; Bertini, V.; Zoppi, N.; Venturini, M.; Ritelli, M.; Colombi, M.
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
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA
2017-01-01 Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Carini, Giulia; Cinquina, Valeria; Chiarelli, Nicola; Majore, Silvia; Colombi, Marina; Castori, Marco
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
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome
2019-01-01 Ritelli, Marco; Cinquina, Valeria; Venturini, Marina; Pezzaioli, LETIZIA CHIARA; Formenti, Anna Maria; Chiarelli, Nicola; Colombi, Marina
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa
2020-01-01 Cinquina, Valeria; Ciaccio, Claudia; Venturini, Marina; Masson, Riccardo; Ritelli, Marco; Colombi, Marina
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes
2019-01-01 Ritelli, M.; Cinquina, V.; Giacopuzzi, E.; Venturini, M.; Chiarelli, N.; Colombi, M.
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency
2020-01-01 Ritelli, M.; Palagano, E.; Cinquina, V.; Beccagutti, F.; Chiarelli, N.; Strina, D.; Hall, I. F.; Villa, A.; Sobacchi, C.; Colombi, M.
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data
2019-01-01 Camerota, L.; Ritelli, M.; Wischmeijer, A.; Majore, S.; Cinquina, V.; Fortugno, P.; Monetta, R.; Gigante, L.; Sangiuolo, F. C.; Novelli, G.; Colombi, M.; Brancati, F.; Ruvolo, G.; Bertoldo, F.; Donzelli, C.; Polisca, P.; Salehi, L. B.; Mancino, R.; di Carlo, E.; Bollero, P.; Cozza, P.; Lagana, G.; Farsetti, P.; de Maio, F.; de Luna, V.; Mancini, F.; Chini, L.; Graziani, S.; Floris, R.; Sperandio, M.; Infante, A.; de Stefano, A.; Chiariello, L.; Grego, S.
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
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
Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype-guided genetic testing
2020-01-01 Ritelli, M.; Cinquina, V.; Venturini, M.; Colombi, M.
| 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 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 | |
| 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 | |
| Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker | 1-gen-2024 | Ritelli, M.; Chiarelli, N.; Cinquina, V.; Bertini, V.; Piantoni, S.; Caproli, A.; Della Pina, S.; Franceschini, F.; Zarattini, G.; Gandy, W.; Venturini, M.; Zoppi, N.; Colombi, M. | |
| Cannabidiol administration after hypoxia-ischemia to newborn rats reduces long-term brain injury and restores neurobehavioral function | 1-gen-2012 | Pazos, M. R.; Cinquina, V.; Gomez, A.; Layunta, R.; Santos, M.; Fernandez-Ruiz, J.; Martinez-Orgado, J. | |
| Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity | 1-gen-2018 | Dordoni, Chiara; Gatti, Marta; Venturini, Marina; Zanca, Arianna; Cinquina, Valeria; Santoro, Graziano; Battocchio, Simonetta; Calzavara-Pinton, Piergiacomo; Ritelli, Marco; Colombi, Marina | |
| Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review | 1-gen-2019 | Ritelli, Marco; Cammarata-Scalisi, Francisco; Cinquina, Valeria; Colombi, Marina | |
| Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant | 1-gen-2019 | Rymen, Daisy; Ritelli, Marco; Zoppi, Nicoletta; Cinquina, Valeria; Giunta, Cecilia; Rohrbach, Marianne; Colombi, Marina | |
| Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts | 1-gen-2024 | Chiarelli, N.; Cinquina, V.; Martini, P.; Bertini, V.; Zoppi, N.; Venturini, M.; Ritelli, M.; Colombi, M. | |
| 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 | |
| Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA | 1-gen-2017 | Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Carini, Giulia; Cinquina, Valeria; Chiarelli, Nicola; Majore, Silvia; Colombi, Marina; Castori, Marco | |
| 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 | |
| Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome | 1-gen-2019 | Ritelli, Marco; Cinquina, Valeria; Venturini, Marina; Pezzaioli, LETIZIA CHIARA; Formenti, Anna Maria; Chiarelli, Nicola; Colombi, Marina | |
| Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa | 1-gen-2020 | Cinquina, Valeria; Ciaccio, Claudia; Venturini, Marina; Masson, Riccardo; Ritelli, Marco; Colombi, Marina | |
| Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes | 1-gen-2019 | Ritelli, M.; Cinquina, V.; Giacopuzzi, E.; Venturini, M.; Chiarelli, N.; Colombi, M. | |
| Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency | 1-gen-2020 | Ritelli, M.; Palagano, E.; Cinquina, V.; Beccagutti, F.; Chiarelli, N.; Strina, D.; Hall, I. F.; Villa, A.; Sobacchi, C.; Colombi, M. | |
| Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data | 1-gen-2019 | Camerota, L.; Ritelli, M.; Wischmeijer, A.; Majore, S.; Cinquina, V.; Fortugno, P.; Monetta, R.; Gigante, L.; Sangiuolo, F. C.; Novelli, G.; Colombi, M.; Brancati, F.; Ruvolo, G.; Bertoldo, F.; Donzelli, C.; Polisca, P.; Salehi, L. B.; Mancino, R.; di Carlo, E.; Bollero, P.; Cozza, P.; Lagana, G.; Farsetti, P.; de Maio, F.; de Luna, V.; Mancini, F.; Chini, L.; Graziani, S.; Floris, R.; Sperandio, M.; Infante, A.; de Stefano, A.; Chiariello, L.; Grego, S. | |
| 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 | |
| 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 | |
| Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype-guided genetic testing | 1-gen-2020 | Ritelli, M.; Cinquina, V.; Venturini, M.; Colombi, M. |