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 Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.
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Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.

Abstract A molecular study was performed on BRCA1 and BRCA2 genes in a Cypriot family, with a history of both male and female breast cancers. Three variants were detected in…

Continue ReadingQ356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.
Read more about the article Hb Limassol [beta8(A5)Lys–>Asn]: a new hemoglobin variant.
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Hb Limassol [beta8(A5)Lys–>Asn]: a new hemoglobin variant.

Abstract

Continue ReadingHb Limassol [beta8(A5)Lys–>Asn]: a new hemoglobin variant.
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 Health and eugenics practices: looking towards the future.
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Health and eugenics practices: looking towards the future.

Abstract

Continue ReadingHealth and eugenics practices: looking towards the future.
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 Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.
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Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

Abstract Subtelomeric chromosomal abnormalities are emerging as an important cause of human genetic disorders. The scope of this investigation was to screen a selected group of children with idiopathic mental…

Continue ReadingScreening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.
Read more about the article Ribozyme gene therapy.
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Ribozyme gene therapy.

Abstract

Continue ReadingRibozyme gene therapy.