Read more about the article Population genetics of factor V Leiden in Europe.
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Population genetics of factor V Leiden in Europe.

Abstract We have analyzed 5971 control individuals originating from 26 geographically defined populations in Europe and neighboring countries for the presence of factor V Leiden, an important genetic risk factor…

Continue ReadingPopulation genetics of factor V Leiden in Europe.
Read more about the article The molecular characterization of 16 new sequence variants of Hop stunt viroid reveals the existence of invariable regions and a conserved hammerhead-like structure on the viroid molecule.
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The molecular characterization of 16 new sequence variants of Hop stunt viroid reveals the existence of invariable regions and a conserved hammerhead-like structure on the viroid molecule.

Abstract At present isolates of Hop stunt viroid (HSVd) are divided into five groups: three major groups (plum-type, hop-type and citrus-type) each containing isolates from only a limited number of…

Continue ReadingThe molecular characterization of 16 new sequence variants of Hop stunt viroid reveals the existence of invariable regions and a conserved hammerhead-like structure on the viroid molecule.
Read more about the article A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design.
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A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design.

Abstract Y chromosome microdeletions in the azoospermia factor (AZF) locus have been associated with spermatogenic failure. The frequency of AZF deletions is estimated to be about 10-18% in subgroups of…

Continue ReadingA nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design.
Read more about the article Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.
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Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.

Abstract Autosomal dominant medullary cystic kidney disease (ADMCKD) is an adult-onset heterogeneous genetic nephropathy characterized by salt wasting and end-stage renal failure. The gene responsible for ADMCKD-1 was mapped on…

Continue ReadingNovel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.
Read more about the article BRCA1 germline mutations in Cypriot breast cancer patients from 26 families with family history.
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BRCA1 germline mutations in Cypriot breast cancer patients from 26 families with family history.

Abstract Germline mutations in the BRCA1 gene are causative for a variable number of hereditary breast/ovarian cancers. The data presented in this study are based on genetic analysis of the…

Continue ReadingBRCA1 germline mutations in Cypriot breast cancer patients from 26 families with family history.
Read more about the article Data on nine STR loci used for forensic and paternity testing in the Greek Cypriot population of Cyprus.
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Data on nine STR loci used for forensic and paternity testing in the Greek Cypriot population of Cyprus.

Abstract Allele frequencies for the nine STRs included in the AMPFlSTR kit were obtained from a sample of 152 unrelated Greek Cypriot from the Mediterranean island of Cyprus

Continue ReadingData on nine STR loci used for forensic and paternity testing in the Greek Cypriot population of Cyprus.
Read more about the article Dielectric relaxation in an enzyme active site: molecular dynamics simulations interpreted with a macroscopic continuum model.
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Dielectric relaxation in an enzyme active site: molecular dynamics simulations interpreted with a macroscopic continuum model.

Abstract Dielectric relaxation plays an important role in many chemical processes in proteins, including acid-base titration, ligand binding, and charge transfer reactions. Its complexity makes experimental characterization difficult, and so,…

Continue ReadingDielectric relaxation in an enzyme active site: molecular dynamics simulations interpreted with a macroscopic continuum model.
Read more about the article Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
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Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

Abstract The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1 : 1000 individuals of the Caucasian population. The main symptom…

Continue ReadingNovel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
Read more about the article Mapping of the second Friedreich’s ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.
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Mapping of the second Friedreich’s ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.

Abstract Friedreich's ataxia (FRDA), the most-common form of autosomal recessive ataxia, is inherited in most cases by a large expansion of a GAA triplet repeat in the first intron of…

Continue ReadingMapping of the second Friedreich’s ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.
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.