Valeria Cinquina

Scopus Author ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 10

Top Venues

Cells

Molecular genetics & genomic medicine

American journal of medical genetics. Part A

European journal of human genetics : EJHG

University of Brescia

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Brescia

Italy

Post Doc :: DMMT

Publications

Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Valeria Bertini, Silvia Piantoni, Alessia Caproli, Silvia Ebe Lucia Della Pinna, Franco Franceschini, Guido Zarattini, Woodrow Gandy, Marina Venturini, Nicoletta Zoppi, Marina Colombi
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. American journal of medical genetics. Part A (2024)
Paola Fortugno, Rosanna Monetta, Valeria Cinquina, Chiara Rigon, Francesca Boaretto, Chiara De Luca, Nicoletta Zoppi, Luana Di Leandro, Emanuela De Domenico, Arianna Di Daniele, Rodolfo Ippoliti, Francesco Angelucci, Ernesto Di Cesare, Ruggero De Paulis, Leonardo Salviati, Marina Colombi, Francesco Brancati, Marco Ritelli
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome. European journal of human genetics : EJHG (2023)
Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Marika Vezzoli, Marina Venturini, Marina Colombi
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center. American journal of medical genetics. Part A (2023)
Paola Fortugno, Rosanna Monetta, Valeria Cinquina, Chiara Rigon, Francesca Boaretto, Chiara De Luca, Nicoletta Zoppi, Luana Di Leandro, Emanuela De Domenico, Arianna Di Daniele, Rodolfo Ippoliti, Francesco Angelucci, Ernesto Di Cesare, Ruggero De Paulis, Leonardo Salviati, Marina Colombi, Francesco Brancati, Marco Ritelli
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome. European journal of human genetics : EJHG (2023)
Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Nicoletta Zoppi, Valeria Bertini, Marina Venturini, Marina Colombi
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms. Cells 11 (24) (2022)
Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Nicoletta Zoppi, Valeria Bertini, Marina Venturini, Marina Colombi
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms. Cells 11 (24) (2022)
Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Nicoletta Zoppi, Valeria Bertini, Marina Venturini, Marina Colombi
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms. Cells 11 (24) (2022)
Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Nicoletta Zoppi, Valeria Bertini, Marina Venturini, Marina Colombi
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms. Cells 11 (24) (2022)
Marco Ritelli, Valeria Cinquina, Marina Venturini, Marina Colombi
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. Molecular genetics & genomic medicine 8 (10) (2020)
Valeria Cinquina, Claudia Ciaccio, Marina Venturini, Riccardo Masson, Marco Ritelli, Marina Colombi
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa. Molecular genetics & genomic medicine 9 (1) (2020)

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Publication Activity (10 Years)

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Valeria Cinquina