CINQUINA, VALERIA

CINQUINA, VALERIA  

Dipartimento di Medicina Molecolare e Traslazionale  

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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
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.
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center 1-gen-2023 Ritelli, M.; Chiarelli, N.; Cinquina, V.; Vezzoli, M.; Venturini, M.; Colombi, M.