E. Kanavakis

TL;DR: MC1R polymorphisms are a predisposing factor of melanoma in a southern European population with a relatively low incidence of the disease.

TL;DR: It is shown that downregulation of K MT2C in bladder cancer cells leads to extensive changes in the epigenetic status and the expression of DNA damage response and DNA repair genes, suggesting that cancer cells with low KMT2C expression are attractive targets for therapies with PARP1/2 inhibitors.

TL;DR: This study shows that exome sequencing, in addition to being a powerful diagnostic tool, promises to rapidly expand the knowledge of rare genetic Mendelian disorders and can be used to establish more detailed causative links between mutant genotypes and clinical phenotypes.

TL;DR: Clinical data is presented on the morphologic features, hearing, ophthalmologic, orthopaedic, neurological, cardiovascular, genitourinary and gastrointestinal evaluation of 17 Greek patients with the clinical diagnosis of Goldenhar syndrome and with a normal karyotype.

TL;DR: The 22q11.2 deletion was confirmed in all cases with hypocalcemia and in over half of the cases with multiple congenital anomalies, immunological problems and hypotonia/seizures, emphasizing the need for stricter referral criteria.