Read more about the article Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.

Abstract Deletions or intragenic mutations involving the MEF2C gene on chromosome 5q14.3 have generally been associated with a relatively uniform phenotype characterized by severe developmental delay, absent speech, stereotypies, absent…

Continue ReadingPartial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.
Read more about the article Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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 Status epilepticus developing during lacosamide monotherapy.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

Status epilepticus developing during lacosamide monotherapy.

Abstract Two cases with partial onset epilepsy who developed status epilepticus (SE) on lacosamide (LCM) monotherapy are reported. LCM is an effective adjunctive antiepileptic drug (AED) for partial-onset epilepsy and…

Continue ReadingStatus epilepticus developing during lacosamide monotherapy.
Read more about the article Intestinal microbiota and diet in IBS: causes, consequences, or epiphenomena?
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
Read more about the article Altered metabolic pathways in clear cell renal cell carcinoma: A meta-analysis and validation study focused on the deregulated genes and their associated networks.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

Altered metabolic pathways in clear cell renal cell carcinoma: A meta-analysis and validation study focused on the deregulated genes and their associated networks.

Abstract Clear cell renal cell carcinoma (ccRCC) is the predominant subtype of renal cell carcinoma (RCC). It is one of the most therapy-resistant carcinomas, responding very poorly or not at…

Continue ReadingAltered metabolic pathways in clear cell renal cell carcinoma: A meta-analysis and validation study focused on the deregulated genes and their associated networks.