Read more about the article A prenatally ascertained de novo terminal deletion of chromosomal bands 1q43q44 associated with multiple congenital abnormalities in a female fetus.
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A prenatally ascertained de novo terminal deletion of chromosomal bands 1q43q44 associated with multiple congenital abnormalities in a female fetus.

Abstract Terminal deletions in the long arm of chromosome 1 result in a postnatally recognizable disorder described as 1q43q44 deletion syndrome. The size of the deletions and the resulting phenotype…

Continue ReadingA prenatally ascertained de novo terminal deletion of chromosomal bands 1q43q44 associated with multiple congenital abnormalities in a female fetus.
Read more about the article A defence-related Olea europaea β-glucosidase hydrolyses and activates oleuropein into a potent protein cross-linking agent.
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A defence-related Olea europaea β-glucosidase hydrolyses and activates oleuropein into a potent protein cross-linking agent.

Abstract Oleuropein, the major secoiridoid compound in olive, is involved in a sophisticated two-component defence system comprising a β-glucosidase enzyme that activates oleuropein into a toxic glutaraldehyde-like structure. Although oleuropein…

Continue ReadingA defence-related Olea europaea β-glucosidase hydrolyses and activates oleuropein into a potent protein cross-linking agent.
Read more about the article Carcinogenicity of ambient air pollution: use of biomarkers, lessons learnt and future directions.
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Carcinogenicity of ambient air pollution: use of biomarkers, lessons learnt and future directions.

Abstract The association between ambient air pollution (AAP) exposure and lung cancer risk has been investigated in prospective studies and the results are generally consistent, indicating that long-term exposure to…

Continue ReadingCarcinogenicity of ambient air pollution: use of biomarkers, lessons learnt and future directions.
Read more about the article Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities.
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Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities.

Abstract MicroRNA haploinsufficiency has been associated with developmental defects in only a limited number of cases. Here we report a de novo genomic microdeletion that includes the LINGO2 gene as…

Continue ReadingHaploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities.
Read more about the article Biological embedding of early-life exposures and disease risk in humans: a role for DNA methylation.
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Biological embedding of early-life exposures and disease risk in humans: a role for DNA methylation.

Abstract Following wider acceptance of 'the thrifty phenotype' hypothesis and the convincing evidence that early-life exposures can influence adult health even decades after the exposure, much interest has been placed…

Continue ReadingBiological embedding of early-life exposures and disease risk in humans: a role for DNA methylation.
Read more about the article Intestinal microbiota and diet in IBS: causes, consequences, or epiphenomena?
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Intestinal microbiota and diet in IBS: causes, consequences, or epiphenomena?

Abstract Irritable bowel syndrome (IBS) is a heterogeneous functional disorder with a multifactorial etiology that involves the interplay of both host and environmental factors. Among environmental factors relevant for IBS…

Continue ReadingIntestinal microbiota and diet in IBS: causes, consequences, or epiphenomena?
Read more about the article Developmental determinants in non-communicable chronic diseases and ageing.
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Developmental determinants in non-communicable chronic diseases and ageing.

Abstract Prenatal and peri-natal events play a fundamental role in health, development of diseases and ageing (Developmental Origins of Health and Disease (DOHaD)). Research on the determinants of active and…

Continue ReadingDevelopmental determinants in non-communicable chronic diseases and ageing.
Read more about the article The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.
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The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.

Abstract Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder caused by mutations in the HEXA gene resulting in β-hexosaminidase A (HEX A) deficiency and neuronal accumulation of GM2 ganglioside.…

Continue ReadingThe first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.
Read more about the article Single-nucleotide polymorphisms in one-carbon metabolism genes, Mediterranean diet and breast cancer risk: a case-control study in the Greek-Cypriot female population.
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Single-nucleotide polymorphisms in one-carbon metabolism genes, Mediterranean diet and breast cancer risk: a case-control study in the Greek-Cypriot female population.

Abstract Single-nucleotide polymorphisms (SNPs) within genes of the one-carbon metabolism pathway have been shown to interact with dietary folate intake to modify breast cancer (BC) risk. Our group has previously…

Continue ReadingSingle-nucleotide polymorphisms in one-carbon metabolism genes, Mediterranean diet and breast cancer risk: a case-control study in the Greek-Cypriot female population.
Read more about the article Number of embryos biopsied as a predictive indicator for the outcome of preimplantation genetic diagnosis by fluorescence in situ hybridisation in translocation cases.
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Number of embryos biopsied as a predictive indicator for the outcome of preimplantation genetic diagnosis by fluorescence in situ hybridisation in translocation cases.

Abstract This study aimed to investigate the optimum number of embryos to be biopsied in order to increase the likelihood of obtaining a balanced/normal embryo following preimplantation genetic diagnosis (PGD)…

Continue ReadingNumber of embryos biopsied as a predictive indicator for the outcome of preimplantation genetic diagnosis by fluorescence in situ hybridisation in translocation cases.