5 Result(s)

Article

Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study

To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients.

Manila Boarini, Morena Tremosini, Alessia Di Cecco, Maria Gnoli… in Quality of Life Research (2024)

Article

Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series

Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is ...

Maria Gnoli, Marco Gambarotti, Alberto Righi… in Orphanet Journal of Rare Diseases (2024)

Article

Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study

Only a few studies explore the role of nurses in genetic counselling and genetic health care, and none of them is related to orphan diseases. In addition, few studies address the issue of finding variables tha...

Marina Mordenti, Morena Tremosini, Manuela Locatelli… in BMC Health Services Research (2023)

Article

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. The disease is sporadic and the pathogenesis is still poorly understo...

Maria Gnoli, Eric Lodewijk Staals, Laura Campanacci… in Calcified Tissue International (2019)

Article

Skeletal dysplasias: approach to the clinical diagnosis and implication of appropriate diagnosis for knowledge and research studies in these rare diseases. Hereditary multiple Osteochondromas as example/paradigm

Maria Gnoli, Elena Pedrini, Marina Mordenti… in Italian Journal of Pediatrics (2014)