Read more about the article Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.
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Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.

Abstract To develop a sensitive, specific, simple, cost-effective and reproducible platform for the non-invasive prenatal detection of paternally inherited alleles for β-thalassaemia. The development of such an assay is of…

Continue ReadingFast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.
Read more about the article Intrathecal Delivery of Viral Vectors for Gene Therapy.
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Intrathecal Delivery of Viral Vectors for Gene Therapy.

Abstract Gene delivery to the peripheral nervous system for therapeutic applications remains technically challenging but could eventually have a significant impact on the development of innovative treatments not only for…

Continue ReadingIntrathecal Delivery of Viral Vectors for Gene Therapy.
Read more about the article Annonacin promotes selective cancer cell death via NKA-dependent and SERCA-dependent pathways.
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Annonacin promotes selective cancer cell death via NKA-dependent and SERCA-dependent pathways.

Abstract In the healthcare sector, phytocompounds are known to be beneficial by contributing or alleviating a variety of diseases. Studies have demonstrated the progressive effects of phytocompounds on immune-related diseases…

Continue ReadingAnnonacin promotes selective cancer cell death via NKA-dependent and SERCA-dependent pathways.
Read more about the article Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
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Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Abstract Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we describe current best practice and likely future developments. In individuals with suspected Alport syndrome, all…

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Read more about the article Adaptation and conservation insights from the koala genome.
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Adaptation and conservation insights from the koala genome.

Abstract The koala, the only extant species of the marsupial family Phascolarctidae, is classified as 'vulnerable' due to habitat loss and widespread disease. We sequenced the koala genome, producing a…

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Read more about the article Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
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Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Abstract Autosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene () mutations (ADTKD-) is characterized by progressive kidney failure. Genetic evaluation for ADTKD- specifically tests for a cytosine duplication that…

Continue ReadingNoninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
Read more about the article PathwayConnector: finding complementary pathways to enhance functional analysis.
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PathwayConnector: finding complementary pathways to enhance functional analysis.

Abstract PathwayConnector is a web-tool that facilitates the construction of complementary pathway-to-pathway networks and subnetworks of them, based on a reference pathway network derived from the rich information available either…

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Read more about the article Aniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature.
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Aniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature.

Abstract Aniridia is a rare congenital ocular malformation that follows an autosomal dominant mode of inheritance. Most patients carry pathogenic point mutations in the paired box 6 gene (), but…

Continue ReadingAniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature.
Read more about the article Adherence to pneumococcal conjugate vaccination schedule and uptake rate as compared to the established diphtheria-tetanus-acellular pertussis vaccination in Cyprus.
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Adherence to pneumococcal conjugate vaccination schedule and uptake rate as compared to the established diphtheria-tetanus-acellular pertussis vaccination in Cyprus.

Abstract Pneumococcus is a common cause of invasive and non-invasive infections in children. In areas with high vaccination coverage, universal infant vaccination with conjugated pneumococcal vaccine (PCV) has significantly decreased…

Continue ReadingAdherence to pneumococcal conjugate vaccination schedule and uptake rate as compared to the established diphtheria-tetanus-acellular pertussis vaccination in Cyprus.
Read more about the article Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
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Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.

Abstract Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring. We present a family,…

Continue ReadingCryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.