Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.
Abstract
Abstract
Abstract Thin-basement-membrane nephropathy (TBMN) and Alport syndrome (AS) are progressive collagen IV nephropathies caused by mutations in COL4A3/A4/A5 genes. These nephropathies invariably present with microscopic hematuria and frequently progress to…
Abstract Autism spectrum disorders (ASDs) comprise a distinct entity of neurodevelopmental disorders with a strong genetic component. Despite the identification of several candidate genes and causative genomic copy number variations…
Abstract This longitudinal study describes the relationship between young children's screen time, dietary habits and anthropometric measures. The hypothesis was that television viewing and other screen activities at baseline result…
Abstract Autosomal recessive cerebellar ataxias (ARCA) encompass a heterogeneous group of rare diseases that affect the cerebellum, the spinocerebellar tract and/or the sensory tracts of the spinal cord. We investigated…
Abstract Limited data exist on the spectrum of heredoataxias in Greece, including the prevalence and phenotype of Friedreich's ataxia (FRDA) and the prevalence and subtypes of dominant spinocerebellar ataxias (SCAs).…
Abstract Some higher vertebrates can display unique muscle regenerative abilities through dedifferentiation. Research evidence suggests that induced dedifferentiation can be achieved in mammalian cells. TWIST is a bHLH (basic helix-loop-helix)…
Abstract In a previous study we had shown that treatment of male Fischer rats with exogenous chemicals for three months resulted in prominent, mode-of-action dependent effects on liver microRNA (miRNA)…
Abstract Phlebotomus (Larroussius) perfiliewi is one of the main vectors of Leishmania infantum in the Mediterranean basin and in Central Asia. Its taxonomic status remains doubtful. It usually includes three…
Abstract The relevance of geographical distribution and the roles of dispersal and spatial isolation during the speciation of microorganisms are nowadays of great interest. The Paramecium aurelia species complex is…