Read more about the article A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.
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A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.

Abstract Objective The characterization of a novel large deletion in the galactose-1-phosphate uridyltransferase (GALT) gene accounting for the majority of disease alleles in Cypriot patients with classic galactosemia. Methods DNA…

Continue ReadingA Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.
Read more about the article A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.
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A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.

Abstract Duplications of the X chromosome are rare cytogenetic findings, and have been associated with an abnormal phenotype in the male offspring of apparently normal or near normal female carriers.…

Continue ReadingA prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.
Read more about the article [An epidemiological study on canine leishmaniasis (CanL) and sand flies in Northern Cyprus].
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[An epidemiological study on canine leishmaniasis (CanL) and sand flies in Northern Cyprus].

Abstract In this study, the investigation on the prevalence of canine leishmaniasis (CanL) and sand fly species incriminated as potential vectors of leishmaniasis in the northern part of the Cyprus…

Continue Reading[An epidemiological study on canine leishmaniasis (CanL) and sand flies in Northern Cyprus].
Read more about the article Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.
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Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.

Abstract Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotranferase) has been associated with a phenotype of severe chondrodysplasia and progressive spinal involvement. Recent reports indicate that affected individuals…

Continue ReadingTwo Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.
Read more about the article Secretory phospholipase A(2)-IIA and cardiovascular disease: a mendelian randomization study.
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Secretory phospholipase A(2)-IIA and cardiovascular disease: a mendelian randomization study.

Abstract This study sought to investigate the role of secretory phospholipase A2 (sPLA2)-IIA in cardiovascular disease. Higher circulating levels of sPLA2-IIA mass or sPLA2 enzyme activity have been associated with…

Continue ReadingSecretory phospholipase A(2)-IIA and cardiovascular disease: a mendelian randomization study.
Read more about the article New stands of species of the Paramecium aurelia complex in Africa and Europe.
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New stands of species of the Paramecium aurelia complex in Africa and Europe.

Abstract The relevance of geographical distribution and the roles of dispersal and spatial isolation during the speciation of microorganisms are nowadays of great interest. The Paramecium aurelia species complex is…

Continue ReadingNew stands of species of the Paramecium aurelia complex in Africa and Europe.
Read more about the article Epidemiology and genetic diversity of criniviruses associated with tomato yellows disease in Greece.
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Epidemiology and genetic diversity of criniviruses associated with tomato yellows disease in Greece.

Abstract Tomato chlorosis virus (ToCV) and Tomato infectious chlorosis virus (TICV) are two whitefly transmitted viruses which are classified in the genus Crinivirus of the family Closteroviridae. Both induce similar…

Continue ReadingEpidemiology and genetic diversity of criniviruses associated with tomato yellows disease in Greece.
Read more about the article Calreticulin gene exon 9 frameshift mutations in patients with thrombocytosis.
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Calreticulin gene exon 9 frameshift mutations in patients with thrombocytosis.

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Abstract

Continue ReadingCalreticulin gene exon 9 frameshift mutations in patients with thrombocytosis.
Read more about the article Adult spinal cord ependymal layer: a promising pool of quiescent stem cells to treat spinal cord injury.
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Adult spinal cord ependymal layer: a promising pool of quiescent stem cells to treat spinal cord injury.

Abstract Spinal cord injury (SCI) is a major health burden and currently there is no effective medical intervention. Research performed over the last decade revealed that cells surrounding the central…

Continue ReadingAdult spinal cord ependymal layer: a promising pool of quiescent stem cells to treat spinal cord injury.