Marina Colombi

Full professor of Medical Genetics

University of Brescia

Italy

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About

Marina Colombi is a full professor of Medical Genetics at the University of Brescia, Italy. Her research focuses on vascular Ehlers-Danlos syndrome, including its genetic underpinnings and clinical management. Recent articles explore topics such as the disease mechanisms in vascular Ehlers-Danlos syndrome, the role of extracellular matrix proteins, and the clinical implications of genetic variants in related conditions.

Articles (13)

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2025

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2024

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2024

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2020

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2020

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ITALY

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Nicola Laera

University of Brescia

ITALY

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Nicoletta ZOPPI

Professor

University of Brescia

ITALY

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Massimo Salvetti

Professor

University of Brescia

ITALY

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Marina Colombi

Research Interests

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About

Articles (13)

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome

Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers–Danlos Syndrome: Focus on Vascular Prevention

Integrative Multi-Omics Approach in Vascular Ehlers–Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts

Despite celiprolol therapy, patients with vascular Ehlers–Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center

Looking back and beyond the 2017 diagnostic criteria for hypermobile <scp>Ehlers‐Danlos</scp> syndrome: A retrospective cross‐sectional study from an Italian reference center

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

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?

Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

Application of the 2017 criteria for vascular Ehlers‐Danlos syndrome in 50 patients ascertained according to the Villefranche nosology

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

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 and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders

Collaborators (8)

MARINA VENTURINI

Nicola Chiarelli

Maria Lorenza Muiesan

Marika Vezzoli

Lorenzo Cipriano

Nicola Laera

Nicoletta ZOPPI

Massimo Salvetti

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