Read more about the article Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
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Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.

Abstract Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or…

Continue ReadingAdvances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
Read more about the article Environmental distribution of Cryptococcus neoformans and C. gattii around the Mediterranean basin.
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Environmental distribution of Cryptococcus neoformans and C. gattii around the Mediterranean basin.

Abstract In order to elucidate the distribution of Cryptococcus neoformans and C. gattii in the Mediterranean basin, an extensive environmental survey was carried out during 2012-2015. A total of 302…

Continue ReadingEnvironmental distribution of Cryptococcus neoformans and C. gattii around the Mediterranean basin.
Read more about the article Urinary Mineral Concentrations in European Pre-Adolescent Children and Their Association with Calcaneal Bone Quantitative Ultrasound Measurements.
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Urinary Mineral Concentrations in European Pre-Adolescent Children and Their Association with Calcaneal Bone Quantitative Ultrasound Measurements.

Abstract This study investigates differences and associations between urinary mineral concentrations and calcaneal bone measures assessed by quantitative ultrasonography (QUS) in 4322 children (3.1-11.9 years, 50.6% boys) from seven European…

Continue ReadingUrinary Mineral Concentrations in European Pre-Adolescent Children and Their Association with Calcaneal Bone Quantitative Ultrasound Measurements.
Read more about the article Sigma-1 receptors modulate neonatal Na1.5 ion channels in breast cancer cell lines.
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Sigma-1 receptors modulate neonatal Na1.5 ion channels in breast cancer cell lines.

Abstract The main aim of this study was to investigate a possible functional connection between sigma-1 receptors and voltage-gated sodium channels (VGSCs) in human breast cancer cells. The hypothesis was…

Continue ReadingSigma-1 receptors modulate neonatal Na1.5 ion channels in breast cancer cell lines.
Read more about the article Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.
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Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.

Abstract The purpose of this study was to determine the normal range of chitotriosidase activity in the Cypriot population and the frequency of the 24bp duplication polymorphism. Furthermore, we compared…

Continue ReadingChitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.
Read more about the article Integrase Strand Transfer Inhibitors (INSTIs) Resistance Mutations in HIV-1 Infected Turkish Patients.
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Integrase Strand Transfer Inhibitors (INSTIs) Resistance Mutations in HIV-1 Infected Turkish Patients.

Abstract Integrase strand transfer inhibitor (INSTI) is a new class of antiretroviral (ARV) drugs designed to block the action of the integrase viral enzyme, which is responsible for insertation of…

Continue ReadingIntegrase Strand Transfer Inhibitors (INSTIs) Resistance Mutations in HIV-1 Infected Turkish Patients.
Read more about the article Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.
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Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.

Abstract Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolytic enzyme α-galactosidase A (α-Gal-A). It is characterized by progressive lysosomal accumulation of globotriaosylceramide (Gb3)…

Continue ReadingNovel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.
Read more about the article Evaluation of the genetic parameters for 10 common and five new ESS core autosomal STR loci in seven major geographic regions and the largest metropolitan province of Turkey.
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Evaluation of the genetic parameters for 10 common and five new ESS core autosomal STR loci in seven major geographic regions and the largest metropolitan province of Turkey.

Abstract Situated at the crossroads of Asia, Middle East and Europe, Turkey has an ethnically diverse population of over 78 milllion people. To investigate the population genetics and potential differences…

Continue ReadingEvaluation of the genetic parameters for 10 common and five new ESS core autosomal STR loci in seven major geographic regions and the largest metropolitan province of Turkey.
Read more about the article Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies.
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Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies.

Abstract The diagnosis of hematologic malignancies relies on multidisciplinary workflows involving morphology, flow cytometry, cytogenetic, and molecular genetic analyses. Advances in cancer genomics have identified numerous recurrent mutations with clear…

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Read more about the article Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.
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Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.

Abstract There is great need for the development of highly accurate cost effective technologies that could facilitate the widespread adoption of noninvasive prenatal testing (NIPT). We developed an assay based…

Continue ReadingCell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.