Read more about the article Thalassemia and its relevance to personalized medicine.
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Thalassemia and its relevance to personalized medicine.

Abstract Thalassemias are the most common monogenic gene disorders in the world. Patients present with a wide variability of clinical phenotypes ranging from severe phenotype (β-thalassemia major) to a very…

Continue ReadingThalassemia and its relevance to personalized medicine.
Read more about the article The effect of myotonic dystrophy transcript levels and location on muscle differentiation.
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The effect of myotonic dystrophy transcript levels and location on muscle differentiation.

Abstract In myotonic dystrophy type I (DM1), nuclear retention of mutant DMPK transcripts compromises muscle cell differentiation. Although several reports have identified molecular defects in myogenesis, it remains still unclear…

Continue ReadingThe effect of myotonic dystrophy transcript levels and location on muscle differentiation.
Read more about the article Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.
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Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.

Abstract beta-Thalassemia is one of the most common autosomal recessive single-gene disorders in Cyprus. Development of a noninvasive prenatal diagnostic (NIPD) assay for beta-thalassemia is based mostly on the detection…

Continue ReadingArrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.
Read more about the article Differential orbicularis oculi involvement in neuromuscular junction dysfunction.
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Differential orbicularis oculi involvement in neuromuscular junction dysfunction.

Abstract Single-fiber electromyography is a sensitive electrophysiological method for the determination of neuromuscular dysfunction. Normative values for stimulated single-fiber electromyography have been reported for the orbicularis oculi (OOc) with no…

Continue ReadingDifferential orbicularis oculi involvement in neuromuscular junction dysfunction.
Read more about the article Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.
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Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.

Abstract Heterozygous mutations in the COL4A3/ COL4A4 genes are currently thought to be responsible for familial benign microscopic haematuria and maintenance of normal long-term kidney function. We report on 11…

Continue ReadingClinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.
Read more about the article Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies.
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Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies.

Abstract The use of epigenetic differences between maternal whole blood and fetal (placental) DNA is one of the main areas of interest for the development of noninvasive prenatal diagnosis of…

Continue ReadingSites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies.
Read more about the article Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus.
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Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus.

Abstract OBJECTIVES. To define the incidence and prevalence of familial amyloidotic polyneuropathy (FAP) TTRVal30Met on the island of Cyprus. To study the clinical phenotype and genetic features of FAP TTRVal30Met…

Continue ReadingEpidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus.
Read more about the article Spatially distinct functions of PAX6 and NKX2.2 during gliogenesis in the ventral spinal cord.
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Spatially distinct functions of PAX6 and NKX2.2 during gliogenesis in the ventral spinal cord.

Abstract During ventral spinal cord (vSC) development, the p3 and pMN progenitor domain boundary is thought to be maintained by cross-repressive interactions between NKX2.2 and PAX6. Using loss-of-function analysis during…

Continue ReadingSpatially distinct functions of PAX6 and NKX2.2 during gliogenesis in the ventral spinal cord.

Coevolution between crossbills and black pine: the importance of competitors, forest area and resource stability.

Author information: Department of Zoology and Physiology, Program in Ecology, University of Wyoming, Laramie, WY, USA. cbenkman@uwyo.edu Abstract Studies of predator-prey interactions have found that geographically structured coevolution has played…

Continue ReadingCoevolution between crossbills and black pine: the importance of competitors, forest area and resource stability.
Read more about the article A real-time PCR assay to differentiate the B and Q biotypes of the Bemisia tabaci complex in Cyprus.
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A real-time PCR assay to differentiate the B and Q biotypes of the Bemisia tabaci complex in Cyprus.

Abstract A real-time PCR assay based on TaqMan technology was developed and evaluated for the rapid detection of the B and Q biotypes of Bemisia tabaci (Gennadius) (Hemiptera: Aleyrodidae). A…

Continue ReadingA real-time PCR assay to differentiate the B and Q biotypes of the Bemisia tabaci complex in Cyprus.