Read more about the article Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.
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Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.

Abstract We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4-11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del…

Continue ReadingApparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.
Read more about the article Early childhood electronic media use as a predictor of poorer well-being: a prospective cohort study.
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Early childhood electronic media use as a predictor of poorer well-being: a prospective cohort study.

Abstract Identifying associations between preschool-aged children's electronic media use and their later well-being is essential to supporting positive long-term outcomes. To investigate possible dose-response associations of young children's electronic media…

Continue ReadingEarly childhood electronic media use as a predictor of poorer well-being: a prospective cohort study.
Read more about the article New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney.
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New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney.

Abstract Upper tract urothelial carcinomas (UT-UC) can invade the pelvicalyceal system making differential diagnosis of the various histologically distinct renal cell carcinoma (RCC) subtypes and UT-UC, difficult. Correct diagnosis is…

Continue ReadingNew miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney.
Read more about the article Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population.
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Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population.

Abstract Two variants in the gene encoding the cytochrome P450 2C9 enzyme (CYP2C9) are considered the most significant genetic risk factors associated with bleeding after warfarin prescription. A variant in…

Continue ReadingGenetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population.
Read more about the article Genotype-based prevention of psychosis onset and schizophrenia: a personalized approach in a target population.
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Genotype-based prevention of psychosis onset and schizophrenia: a personalized approach in a target population.

Abstract Schizophrenia imposes a significant burden on public health, affecting approximately 25 million individuals worldwide and generating an extensive healthcare burden. It is important to consider that the disease onset…

Continue ReadingGenotype-based prevention of psychosis onset and schizophrenia: a personalized approach in a target population.
Read more about the article Despeckle filtering software toolbox for ultrasound imaging of the common carotid artery.
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Despeckle filtering software toolbox for ultrasound imaging of the common carotid artery.

Abstract Ultrasound imaging of the common carotid artery (CCA) is a non-invasive tool used in medicine to assess the severity of atherosclerosis and monitor its progression through time. It is…

Continue ReadingDespeckle filtering software toolbox for ultrasound imaging of the common carotid artery.
Read more about the article Early life course risk factors for childhood obesity: the IDEFICS case-control study.
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Early life course risk factors for childhood obesity: the IDEFICS case-control study.

Abstract The early life course is assumed to be a critical phase for childhood obesity; however the significance of single factors and their interplay is not well studied in childhood…

Continue ReadingEarly life course risk factors for childhood obesity: the IDEFICS case-control study.
Read more about the article Population genetics of 17 Y-STR markers in Turkish Cypriots from Cyprus.
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Population genetics of 17 Y-STR markers in Turkish Cypriots from Cyprus.

Abstract We analyzed seventeen Y-chromosomal short tandem repeats (STRs) [DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y-GATA-H4, DYS437, DYS438, and DYS448] in 253 unrelated, male…

Continue ReadingPopulation genetics of 17 Y-STR markers in Turkish Cypriots from Cyprus.
Read more about the article Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach.
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Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach.

Abstract B-thalassaemia and sickle cell disease (SCD) are two of the most common monogenic diseases that are found in many populations worldwide. In both disorders the clinical severity is highly…

Continue ReadingGenotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach.
Read more about the article Using microRNA profiles to predict and evaluate hepatic carcinogenic potential.
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Using microRNA profiles to predict and evaluate hepatic carcinogenic potential.

Abstract Novel chemical entities have to be assessed for potential adverse effects in exposed human populations, including increased cancer incidence. The liver is an organ of particular interest for such…

Continue ReadingUsing microRNA profiles to predict and evaluate hepatic carcinogenic potential.