Marina Colombi (M Colombi)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 20

Top Venues

Cells

Clinical genetics

Molecular genetics & genomic medicine

PloS one

University of Brescia

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

Affiliation History

University of Brescia Oct 6o 2010

Italy

Full professor of Medical Genetics :: Molecular and Translational Medicine

Publications

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)
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)
Nicola Chiarelli, Nicoletta Zoppi, Marina Venturini, Daniele Capitanio, Cecilia Gelfi, Marco Ritelli, Marina Colombi
Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts: A Potential Therapeutic Target? Cells 10 (11) (2021)
Juan Li, Marco Ritelli, Cindy S Ma, Geetha Rao, Tanwir Habib, Emilie Corvilain, Salim Bougarn, Sophie Cypowyj, Lucie Grodecká, Romain Levy, Vivien Béziat, Lei Shang, Kathryn J Payne, Danielle T Avery, Mélanie Migaud, Soraya Boucherit, Sabri Boughorbel, Andrea Guennoun, Maya Chrabieh, Franck Rapaport, Benedetta Bigio, Yuval Itan, Bertrand Boisson, Valérie Cormier-Daire, Delfien Syx, Fransiska Malfait, Nicoletta Zoppi, Laurent Abel, Tomas Freiberger, Harry C Dietz, Nico Marr, Stuart G Tangye, Marina Colombi, Jean Laurent Casanova, Anne Puel
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β. Science immunology 4 (41) (2020)
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)
Marco Ritelli, Marina Venturini, Valeria Cinquina, Nicola Chiarelli, Marina Colombi
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives. Orphanet journal of rare diseases 15 (1) (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)
Marco Ritelli, Francisco Cammarata-Scalisi, Valeria Cinquina, Marina Colombi
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. Molecular genetics & genomic medicine 7 (7) (2019)
Silvia Morlino, Lucia Micale, Marco Ritelli, Marianne Rohrbach, Nicoletta Zoppi, Anthony Vandersteen, Sara Mackay, Emanuele Agolini, Dario Cocciadiferro, Erina Sasaki, Annalisa Madeo, Alessandro Ferraris, Willie Reardon, Maja Di Rocco, Antonio Novelli, Paola Grammatico, Fransiska Malfait, Tommaso Mazza, Alan Hakim, Cecilia Giunta, Marina Colombi, Marco Castori
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. Clinical genetics 97 (3) (2019)
Chloe Angwin, Angela F Brady, Marina Colombi, David J P Ferguson, Rebecca Pollitt, F Michael Pope, Marco Ritelli, Sofie Symoens, Neeti Ghali, Fleur S van Dijk
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients. Genes 10 (10) (2019)
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts. PloS one 14 (2) (2019)
Daisy Rymen, Marco Ritelli, Nicoletta Zoppi, Valeria Cinquina, Cecilia Giunta, Marianne Rohrbach, Marina Colombi
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant. Genes 10 (11) (2019)
Marco Ritelli, Chiara Rovati, Marina Venturini, Nicola Chiarelli, Valeria Cinquina, Marco Castori, Marina Colombi
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology. Clinical genetics 97 (2) (2019)
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. PloS one 13 (1) (2018)
Marco Ritelli, Chiara Dordoni, Valeria Cinquina, Marina Venturini, Piergiacomo Calzavara-Pinton, Marina Colombi
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome. Orphanet journal of rare diseases 12 (1) (2017)
M Ritelli, S Morlino, E Giacopuzzi, L Bernardini, B Torres, G Santoro, V Ravasio, N Chiarelli, D D'Angelantonio, A Novelli, P Grammatico, Marina Colombi, M Castori
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. Clinical genetics 93 (1) (2017)
Marina Colombi, C Dordoni, M Venturini, C Ciaccio, S Morlino, N Chiarelli, A Zanca, P Calzavara-Pinton, N Zoppi, M Castori, M Ritelli
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients. Clinical genetics 92 (6) (2017)

Marina Colombi.css-eqlu8i{font-size:small;padding-left:4px;} (M Colombi)

Publication Activity (10 Years)

Top Topics

Top Venues

Marina Colombi (M Colombi)