Colombi, Marina

The 2017 international classification of the Ehlers–Danlos syndromes

Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 1,936

Ehlers-Danlos syndrome, classical type

Bowen, J. M., Sobey, G. J., Burrows, N. P., Colombi, M., Lavallee, M. E., Malfait, F., & Francomano, C. A. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 184

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 162

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Burkitt Wright, E. M. M., Spencer, H. L., Daly, S. B., Manson, F. D. C., Zeef, L. A. H., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., et al. (2011) · The American Journal of Human Genetics

Corneal surgery and disordersConnective tissue disorders research

Cited by 135

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: Identification of 18 COL5A1 and 2 COL5A2 novel mutations

Ritelli, M., Dordoni, C., Venturini, M., Chiarelli, N., Quinzani, S., Traversa, M., Zoppi, N., Vascellaro, A., Wischmeijer, A., Manfredini, E., et al. (2013) · Orphanet Journal of Rare Diseases

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 134

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers‐danlos syndrome hypermobility type compared to other heritable connective tissue disorders

Colombi, M., Dordoni, C., Chiarelli, N., & Ritelli, M. (2015) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 127

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes

Cazzato, D., Castori, M., Lombardi, R., Caravello, F., Bella, E. D., Petrucci, A., Grammatico, P., Dordoni, C., Colombi, M., & Lauria, G. (2016) · Neurology

Hereditary Neurological DisordersPain Mechanisms and Treatments

Cited by 122

Human Fibroblasts with Mutations in COL5A1 and COL3A1 Genes Do Not Organize Collagens and Fibronectin in the Extracellular Matrix, Down-regulate α2β1 Integrin, and Recruit αvβ3 Instead of α5β1 Integrin

Zoppi, N., Gardella, R., De Paepe, A., Barlati, S., & Colombi, M. (2004) · Journal of Biological Chemistry

Connective tissue disorders researchCell Adhesion Molecules Research

Cited by 107

Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes

Chiarelli, N., Ritelli, M., Zoppi, N., & Colombi, M. (2019) · Genes

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 82

Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees

Castori, M., Dordoni, C., Valiante, M., Sperduti, I., Ritelli, M., Morlino, S., Chiarelli, N., Celletti, C., Venturini, M., Camerota, F., et al. (2014) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 81

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

Chiarelli, N., Carini, G., Zoppi, N., Dordoni, C., Ritelli, M., Venturini, M., Castori, M., & Colombi, M. (2016) · PLOS ONE

Connective tissue disorders researchOral and gingival health research

Cited by 78

Severity classes in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients

Copetti, M., Morlino, S., Colombi, M., Grammatico, P., Fontana, A., & Castori, M. (2019) · Rheumatology

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 55

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

Zoppi, N., Chiarelli, N., Cinquina, V., Ritelli, M., & Colombi, M. (2015) · Human Molecular Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 50

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders

Zoppi, N., Chiarelli, N., Binetti, S., Ritelli, M., & Colombi, M. (2018) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Connective tissue disorders researchOral and gingival health research

Cited by 49

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome

Chiarelli, N., Carini, G., Zoppi, N., Ritelli, M., & Colombi, M. (2018) · PLOS ONE

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 45

Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type

Castori, M., Dordoni, C., Morlino, S., Sperduti, I., Ritelli, M., Valiante, M., Chiarelli, N., Zanca, A., Celletti, C., Venturini, M., et al. (2015) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 40

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations

Ritelli, M., Chiarelli, N., Zoppi, N., Dordoni, C., Quinzani, S., Traversa, M., Venturini, M., Calzavara-Pinton, P., & Colombi, M. (2015) · Molecular Genetics and Metabolism Reports

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 37

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts

Chiarelli, N., Carini, G., Zoppi, N., Ritelli, M., & Colombi, M. (2019) · PLOS ONE

Connective tissue disorders researchSkin and Cellular Biology Research

Cited by 35

FAK-independent αvβ3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts

Zoppi, N., Barlati, S., & Colombi, M. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Cell Adhesion Molecules ResearchCellular Mechanics and Interactions

Cited by 31

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type

Morlino, S., Dordoni, C., Sperduti, I., Venturini, M., Celletti, C., Camerota, F., Colombi, M., & Castori, M. (2017) · American Journal of Medical Genetics Part A

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 29

Rescue of migratory defects of Ehlers-Danlos syndrome fibroblasts in vitro by type V collagen but not insulin-like binding protein-1

Viglio, S., Zoppi, N., Sangalli, A., Gallanti, A., Barlati, S., Mottes, M., Colombi, M., & Valli, M. (2008) · Journal of Investigative Dermatology

Connective tissue disorders researchWound Healing and Treatments

Cited by 28

Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder

Piedimonte, C., Penge, R., Morlino, S., Sperduti, I., Terzani, A., Giannini, M. T., Colombi, M., Grammatico, P., Cardona, F., & Castori, M. (2018) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Connective tissue disorders researchChildren's Physical and Motor Development

Cited by 23

Recurring and Generalized Visceroptosis in Ehlers–Danlos Syndrome Hypermobility Type

Dordoni, C., Ritelli, M., Venturini, M., Chiarelli, N., Pezzani, L., Vascellaro, A., Calzavara‐Pinton, P., & Colombi, M. (2013) · American Journal of Medical Genetics Part A

Connective tissue disorders researchPelvic floor disorders treatments

Cited by 23

Type III and V collagens modulate the expression and assembly of EDA+fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts

Zoppi, N., Ritelli, M., & Colombi, M. (2012) · Biochimica et Biophysica Acta (BBA) - General Subjects

Connective tissue disorders researchCell Adhesion Molecules Research

Cited by 21