Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.
Abstract
Abstract
Abstract The objective of this study was to investigate differences in intima-media thickness (IMT) and diameter (D) measurements of the common carotid artery (CCA) in ultrasound imaging in normal subjects…
Abstract Various twin studies revealed that the influence of genetic factors on psychological diseases or behaviour is more expressed in socioeconomically advantaged environments. Other studies predominantly show an inverse association…
Abstract Lynch syndrome is the most common form of hereditary colorectal cancer and is caused by germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Mutation…
Abstract Gap junctions are essential for glial cell function and have been increasingly implicated in multiple sclerosis (MS). Because increasing cortical abnormalities correlate with disease progression and cognitive dysfunction, we…
Abstract The iterative process of finding relevant information in biomedical literature and performing bioinformatics analyses might result in an endless loop for an inexperienced user, considering the exponential growth of…
Abstract The Republic of Cyprus is recognized as a low level HIV epidemic country with strong evidence of an increase in the transmission through the male to male sexual contact.…
Abstract Cocktails of pharmaceuticals are released in the environment after human consumption and due to the incomplete removal at the wastewater treatment plants. Pharmaceuticals are considered as contaminants of emerging…
Abstract Inherited haemoglobinopathies are the most common monogenic diseases, with millions of carriers and patients worldwide. At present, we know several hundred disease-causing mutations on the globin gene clusters, in…
Abstract Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that…