Ritelli, Marco

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

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

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

Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts

Zoppi, N., Chiarelli, N., Ritelli, M., & Colombi, M. (2018) · International Journal of Molecular Sciences

Connective tissue disorders researchCell Adhesion Molecules 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

Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

Ritelli, M., Cinquina, V., Venturini, M., Pezzaioli, L., Formenti, A. M., Chiarelli, N., & Colombi, M. (2019) · Genes

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 33

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

Further delineation of FKBP14‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature review

Dordoni, C., Ciaccio, C., Venturini, M., Calzavara‐Pinton, P., Ritelli, M., & Colombi, M. (2016) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 20

Skeletal fragility: an emerging complication of Ehlers–Danlos syndrome

Formenti, A. M., Doga, M., Frara, S., Ritelli, M., Colombi, M., Banfi, G., & Giustina, A. (2019) · Endocrine

Connective tissue disorders researchBone health and osteoporosis research

Cited by 17

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing

Colombi, M., Dordoni, C., Cinquina, V., Venturini, M., & Ritelli, M. (2018) · European Journal of Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 16