Dordoni, Chiara

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

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

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

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

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

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

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

Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder

Morlino, S., Dordoni, C., Sperduti, I., Clark, C. J., Piedimonte, C., Fontana, A., Colombi, M., Grammatico, P., Copetti, M., & Castori, M. (2019) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 12