Read more about the article Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population.
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Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population.

Abstract This study was performed to establish the allele, genotype and genotype combination/SNP (single nucleotide polymorphism) profile frequencies in the general population of Cyprus for 6 genes implicated in thrombotic…

Continue ReadingSpectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population.
Read more about the article A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
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A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.

Abstract Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited motor and sensory neuropathy. The autosomal dominant axonal form of the disease (CMT2) is currently subdivided into seven types based…

Continue ReadingA novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
Read more about the article Molecular characterization of G6PD deficiency in Cyprus.
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Molecular characterization of G6PD deficiency in Cyprus.

Abstract In the present study, we determined the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Cyprus using two different procedures in two separate adult population groups: a semiquantitative fluorescence test…

Continue ReadingMolecular characterization of G6PD deficiency in Cyprus.
Read more about the article A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
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A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

Abstract We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the…

Continue ReadingA novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
Read more about the article Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.
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Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.

Abstract The entire coding regions of the two breast cancer susceptibility genes BRCA1 and BRCA2 from breast cancer patients from 40 Cypriot families with multiple cases of breast and ovarian…

Continue ReadingHereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.
Read more about the article Repair of myotonic dystrophy protein kinase (DMPK) transcripts by trans-splicing ribozymes.
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Repair of myotonic dystrophy protein kinase (DMPK) transcripts by trans-splicing ribozymes.

Abstract The Tetrahymena group I intron ribozyme is an RNA molecule of approx 400 bases that is capable of base-specific RNA trans-splicing. These properties can be applied to repair mutations…

Continue ReadingRepair of myotonic dystrophy protein kinase (DMPK) transcripts by trans-splicing ribozymes.
Read more about the article Th2/Th3 cytokine genotypes are associated with pregnancy loss.
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Th2/Th3 cytokine genotypes are associated with pregnancy loss.

Abstract Cytokines are critical immunoregulatory molecules, responsible for determining the nature of an immune response. It has been proposed that Th2/Th3 immune reactions support normal pregnancy, while Th1 immunity is…

Continue ReadingTh2/Th3 cytokine genotypes are associated with pregnancy loss.
Read more about the article Genetic assessment of cardiovascular risk factors in the Greek Cypriot population.
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Genetic assessment of cardiovascular risk factors in the Greek Cypriot population.

Abstract

Continue ReadingGenetic assessment of cardiovascular risk factors in the Greek Cypriot population.
Read more about the article Cytokine polymorphism frequencies in the Greek Cypriot population.
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Cytokine polymorphism frequencies in the Greek Cypriot population.

Abstract There is considerable evidence to suggest that several cytokine genes are polymorphic, resulting in differential transcription and protein expression levels among individuals. It has also been demonstrated that ethnicity…

Continue ReadingCytokine polymorphism frequencies in the Greek Cypriot population.
Read more about the article Ultrasound plaque characterisation, genetic markers and risks.
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Ultrasound plaque characterisation, genetic markers and risks.

Abstract The arterial wall changes detected by ultrasound are the end result of all risk factors (exogenous, endogenous and genetic) known and unknown and are better predictors of risk than…

Continue ReadingUltrasound plaque characterisation, genetic markers and risks.