Read more about the article Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.
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Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.

Abstract Duchenne muscular dystrophy (DMD) is a candidate for the recommended universal screening panel based on evidence that early corticosteroid treatment improves outcomes and on new genetic therapies that require…

Continue ReadingIdentifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.
Read more about the article Sex-specific age association with primary DNA transfer.
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Sex-specific age association with primary DNA transfer.

Abstract Practicing forensic scientists who are called to provide expert witness testimony are often asked to explain both the presence and the absence of DNA on objects that have been…

Continue ReadingSex-specific age association with primary DNA transfer.
Read more about the article The synergistic effect between the Mediterranean diet and GSTP1 or NAT2 SNPs decreases breast cancer risk in Greek-Cypriot women.
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The synergistic effect between the Mediterranean diet and GSTP1 or NAT2 SNPs decreases breast cancer risk in Greek-Cypriot women.

Abstract Xenobiotic metabolism is related to the interplay between diet and breast cancer (BC) risk. This involves detoxification enzymes, which are polymorphic and metabolise various dietary metabolites. An important characteristic…

Continue ReadingThe synergistic effect between the Mediterranean diet and GSTP1 or NAT2 SNPs decreases breast cancer risk in Greek-Cypriot women.
Read more about the article A novel variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
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A novel variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.

Abstract Approximately 10-15% of intellectual disability (ID) cases are caused by genetic aberrations affecting chromosome X, a condition termed X-linked ID (XLID). Examination by whole-exome sequencing of two male siblings…

Continue ReadingA novel variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
Read more about the article Physical and verbal aggressive behavior and COMT genotype: Sensitivity to the environment.
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Physical and verbal aggressive behavior and COMT genotype: Sensitivity to the environment.

Abstract Catechol-O-methyltransferase (COMT) genotype has been implicated as a vulnerability factor for several psychiatric diseases as well as aggressive behavior, either directly, or in interaction with an adverse environment. The…

Continue ReadingPhysical and verbal aggressive behavior and COMT genotype: Sensitivity to the environment.
Read more about the article Y-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements.
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Y-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements.

Abstract The archeological record indicates that the permanent settlement of Cyprus began with pioneering agriculturalists circa 11,000 years before present, (ca. 11,000 y BP). Subsequent colonization events followed, some recognized regionally. Here,…

Continue ReadingY-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements.
Read more about the article Influence of physical fitness on cardio-metabolic risk factors in European children. The IDEFICS study.
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Influence of physical fitness on cardio-metabolic risk factors in European children. The IDEFICS study.

Abstract The aim of the study was to assess the associations of individual and combined physical fitness components with single and clustering of cardio-metabolic risk factors in children. This 2-year…

Continue ReadingInfluence of physical fitness on cardio-metabolic risk factors in European children. The IDEFICS study.
Read more about the article MicroRNA expression and its association with DNA repair in preimplantation embryos.
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MicroRNA expression and its association with DNA repair in preimplantation embryos.

Abstract Active DNA repair pathways are crucial for preserving genomic integrity and are likely among the complex mechanisms involved in the normal development of preimplantation embryos. MicroRNAs (miRNA), short non-coding…

Continue ReadingMicroRNA expression and its association with DNA repair in preimplantation embryos.
Read more about the article Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
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Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.

Abstract Fanconi anemia (FA) is a rare disorder characterized by multiple congenital malformations, progressive bone marrow failure and susceptibility to malignancies. Biallelic mutations in the breast cancer 2, early onset…

Continue ReadingFanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
Read more about the article Double faced role of human mesenchymal stem cells and their role challenges in cancer therapy.
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Double faced role of human mesenchymal stem cells and their role challenges in cancer therapy.

Abstract Human mesenchymal stem cells (hMSCs) are multipotent non-hematopoietic precursor cells with the ability to differentiate into several tissue types. The use of hMSCs has gained significant importance in cancer…

Continue ReadingDouble faced role of human mesenchymal stem cells and their role challenges in cancer therapy.