Read more about the article ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.
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ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.

Abstract The detection and diagnosis of β-thalassaemia for populations with molecular heterogeneity, or diverse ethnic groups, has increased the need for the development of an array high-throughput diagnostic tool that…

Continue ReadingThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.
Read more about the article Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy.
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Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy.

Abstract DM1 (myotonic dystrophy type I) is a common form of muscular dystrophy that affects mainly adults. It is a disease that belongs to the group of defective RNA export…

Continue ReadingTackling the pathogenesis of RNA nuclear retention in myotonic dystrophy.
Read more about the article Molecular mechanisms of gap junction mutations in myelinating cells.
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Molecular mechanisms of gap junction mutations in myelinating cells.

Abstract There is an emerging group of neurological disorders that result from genetic mutations affecting gap junction proteins in myelinating cells. The X-linked form of Charcot Marie Tooth disease (CMT1X)…

Continue ReadingMolecular mechanisms of gap junction mutations in myelinating cells.
Read more about the article Characterization of a sandfly fever Sicilian virus isolated during a sandfly fever epidemic in Turkey.
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Characterization of a sandfly fever Sicilian virus isolated during a sandfly fever epidemic in Turkey.

Abstract Phleboviruses cause sandfly fever but isolates are rare. To analyse samples from concurrent outbreaks of suspected sandfly fever in the Mediterranean provinces of Adana, Izmir and the central province…

Continue ReadingCharacterization of a sandfly fever Sicilian virus isolated during a sandfly fever epidemic in Turkey.
Read more about the article Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.
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Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.

Abstract Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. CMT is classified into 2 main subgroups: a demyelinating and an axonal type. Further subdivisions within these 2 main categories…

Continue ReadingCharcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.
Read more about the article New insights for Ets2 function in trophoblast using lentivirus-mediated gene knockdown in trophoblast stem cells.
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New insights for Ets2 function in trophoblast using lentivirus-mediated gene knockdown in trophoblast stem cells.

Abstract Mouse trophoblast stem (TS) cells represent a unique in vitro system that provides an unlimited supply of TS cells for the study of trophoblast differentiation and TS cell self-renewal.…

Continue ReadingNew insights for Ets2 function in trophoblast using lentivirus-mediated gene knockdown in trophoblast stem cells.
Read more about the article Quantitative proteomic profiling of matched normal and tumor breast tissues.
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Quantitative proteomic profiling of matched normal and tumor breast tissues.

Abstract Proteomic analysis of breast cancer tissue has proven difficult due to its inherent histological complexity. This pilot study presents preliminary evidence for the ability to differentiate adenoma and invasive…

Continue ReadingQuantitative proteomic profiling of matched normal and tumor breast tissues.
Read more about the article Brainstem lesions may be important in the development of epilepsy in multiple sclerosis patients: an evoked potential study.
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Brainstem lesions may be important in the development of epilepsy in multiple sclerosis patients: an evoked potential study.

Abstract Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, with epileptic seizures sometimes observed in the same patients. In this study, we used evoked responses…

Continue ReadingBrainstem lesions may be important in the development of epilepsy in multiple sclerosis patients: an evoked potential study.
Read more about the article Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.
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Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.

Abstract Ethylmalonic encephalopathy (EE, OMIM # 602473) is an autosomal recessive metabolic disorder of infancy affecting the brain, the gastrointestinal tract and peripheral vessels. It is caused by a defect…

Continue ReadingEthylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.
Read more about the article The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.
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The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.

Abstract 5α steroid reductase deficiency (5αSRD) is an autosomal recessive enzymatic deficiency and mutations in the 5α steroid reductase type 2 gene (SRD5A2) result in male pseudohermaphrodism caused by decreased…

Continue ReadingThe IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.