Read more about the article Chronic venous disease and the leukocyte-endothelium interaction: from symptoms to ulceration.
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Chronic venous disease and the leukocyte-endothelium interaction: from symptoms to ulceration.

Abstract The mechanisms regulating varicose vein development and the subsequent skin sequelae seen in chronic venous disease (CVD) have been investigated recently. Despite the diversity of signs and symptoms associated…

Continue ReadingChronic venous disease and the leukocyte-endothelium interaction: from symptoms to ulceration.
Read more about the article MAPH: from gels to microarrays.
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MAPH: from gels to microarrays.

Abstract The development of accurate and sensitive methodologies to detect small chromosomal imbalances (<3 Mb) is extremely important in clinical diagnostics and research in human genetics. The technique of array-comparative…

Continue ReadingMAPH: from gels to microarrays.
Read more about the article The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failure.
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The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failure.

Abstract The homozygous 677TT mutation of the MTHFR gene has been linked to deep vein thrombosis and to arterial atherosclerotic events of the coronary, carotid and peripheral arteries. Its putative…

Continue ReadingThe MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failure.
Read more about the article Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR.
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Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR.

Abstract

Continue ReadingMultiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR.
Read more about the article Vestibular symptoms and signs are correlated with abnormal neurogenic vestibular evoked potentials in patients with multiple sclerosis.
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Vestibular symptoms and signs are correlated with abnormal neurogenic vestibular evoked potentials in patients with multiple sclerosis.

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…

Continue ReadingVestibular symptoms and signs are correlated with abnormal neurogenic vestibular evoked potentials in patients with multiple sclerosis.
Read more about the article Morphological methods in the diagnosis of mitochondrial encephalomyopathies: the role of electron microscopy.
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Morphological methods in the diagnosis of mitochondrial encephalomyopathies: the role of electron microscopy.

Abstract Mitochondrial encephalomyopathies (MEs) encompass a heterogeneous group of disorders that frequently present a diagnostic challenge to clinicians. Historically, MEs were diagnosed by finding ragged red fibers in the muscle…

Continue ReadingMorphological methods in the diagnosis of mitochondrial encephalomyopathies: the role of electron microscopy.
Read more about the article Potential therapy paradigms for Marfan syndrome.
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Potential therapy paradigms for Marfan syndrome.

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…

Continue ReadingPotential therapy paradigms for Marfan syndrome.
Read more about the article The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
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The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

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…

Continue ReadingThe Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
Read more about the article Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.
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Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.

Abstract A mosaic karyotype consisting of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome is relatively common and is associated with…

Continue ReadingIdentification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.