Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR.
Abstract
Abstract
Abstract Symptoms of disequilibrium in multiple sclerosis (MS) are common. Neurogenic vestibular evoked potentials (NVsEPs) are saccular responses to tone-pip acoustic stimuli and are recordable from the parietal areas ipsilaterally…
Abstract Marfan syndrome is the most common genetic disorder of the connective tissue with an estimated prevalence of 1:10,000. The disease is characterised by manifestations in the cardiovascular, skeletal and…
Abstract
Abstract GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration, and in its most severe infantile form, it leads to…
Abstract Although there is good experimental data that utrophin, the autosomal analog of dystrophin, can ameliorate the phenotype in dystrophinopathies, there is scant evidence from human data to support this…
Abstract The purpose of this study is to evaluate the impact of chronic iron overload and genotype on gonadal function in women with thalassaemia major. The study population consists of…
Abstract A major outbreak of febrile syndrome occurred during 2002 among the Greek Army forces in Cyprus. Serological and molecular investigations revealed that the causative agent was a Sicilian-like phlebovirus.…
Abstract The diversity of local Mediterranean food elements is not known in detail, but offers itself to search for new vegetables, salads, fruits and spices which could be used in…
Abstract To evaluate clinical disease expression, non-invasive diagnosis, and prognosis in families with dominant vs. recessive arrhythmogenic right ventricular cardiomyopathy (ARVC) due to mutations in related desmosomal proteins plakophilin-2 (PKP2)…