Mauro Celli
Rome, 00185, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 43 publications
Morphological and functional echocardiographic findings in pediatric patients diagnosed with hypermobile Ehlers-Danlos syndrome.
Journal: Frontiers in pediatrics
Published: December 15, 2025
Molecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience.
Journal: Journal of endocrinological investigation
Published: July 18, 2025
Orthodontic Management in Pediatric Patients with Rare Diseases: Case Reports.
Journal: Journal of clinical medicine
Published: November 24, 2024
Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.
Journal: Calcified tissue international
Published: September 30, 2024
Corneal Alterations in Patients with Osteogenesis Imperfecta: An in vivo Corneal Confocal Microscopy Study.
Journal: Clinical ophthalmology (Auckland, N.Z.)
Published: May 17, 2024
'BLUES' procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta.
Journal: Orphanet journal of rare diseases
Published: November 12, 2023
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports.
Journal: European journal of medical genetics
Published: July 10, 2023
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Journal: Frontiers in endocrinology
Published: April 14, 2023
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Journal: Human genetics
Published: February 13, 2023
Brain-Type Creatine Kinase Release from Cultured Osteoclasts Exposed to Neridronate in Children Affected by Osteogenesis Imperfecta Type 1.
Journal: Biomedicines
Published: December 15, 2022
Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review.
Journal: Annals of medicine
Published: September 27, 2021
Last Updated: 09/26/2026