4 Result(s)
within
Maria Gnoli
English
Human Genetics
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Article
Open AccessLoeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder showing the involvement of cutaneous, cardiovascular, craniofacial, and skeletal systems. In particular, LDS patients show arterial tortuosity w...
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Article
Evaluation of TP53 Pro72Arg and MDM2 SNP285–SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations
Li-Fraumeni syndrome (LFS) is a rare genetic cancer predisposition disease, partly determined by the presence of a TP53 germline mutation; lacking thereof, in presence of a typical LFS phenotype, defines a wide g...
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Article
Open AccessSecondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival
Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondr...
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Article
Open AccessSecondary 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 ...
