Alcune mie pubblicazioni scientifiche

• Duplication in addition to terminal deletions are present in a proportion of ring chromosomes. Clues the mechanisms of formation.
• Jacobsen syndrome
• Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.
• Craniofacial characteristics of fragile X syndrome in mouse and man.
• Growth hormone, gender and face shape in Prader-Willi syndrome.
• A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.
• Deferiprone versus deferoxamine in sickle cell disease: results from a 5-year long-term Italian multi-center randomized clinical trial.
• Investigators of the Multicenter Randomized Clinical Trial of Deferiprone versus Deferoxamine in Sickle-Cell-Disease.
• Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
• Real-life experience with hydroxyurea in sickle cell disease: A multicenter study in a cohort of patients with heterogeneous descent.