Read more about the article A dominant-negative provides new insights into FAK regulation and function in early embryonic morphogenesis.
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A dominant-negative provides new insights into FAK regulation and function in early embryonic morphogenesis.

Abstract FAK is a non-receptor tyrosine kinase involved in a wide variety of biological processes and crucial for embryonic development. In this manuscript, we report the generation of a new…

Continue ReadingA dominant-negative provides new insights into FAK regulation and function in early embryonic morphogenesis.
Read more about the article Molecular genetics of familial hematuric diseases.
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Molecular genetics of familial hematuric diseases.

Abstract The familial hematuric diseases are a genetically heterogeneous group of monogenic conditions, caused by mutations in one of several genes. The major genes involved are the following: (i) the…

Continue ReadingMolecular genetics of familial hematuric diseases.
Read more about the article Association of genotypes at the matrix metalloproteinase (MMP) loci with carotid IMT and presence of carotid and femoral atherosclerotic plaques.
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Association of genotypes at the matrix metalloproteinase (MMP) loci with carotid IMT and presence of carotid and femoral atherosclerotic plaques.

Abstract We aimed to test the association between matrix metalloproteinase (MMP) genetic polymorphisms and (a) intima-media thickness in the common carotid (IMTcc) and (b) the presence of plaques in the…

Continue ReadingAssociation of genotypes at the matrix metalloproteinase (MMP) loci with carotid IMT and presence of carotid and femoral atherosclerotic plaques.
Read more about the article Identifying outcomes of clinical genetic services: qualitative evidence and methodological considerations.
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Identifying outcomes of clinical genetic services: qualitative evidence and methodological considerations.

Abstract Extensive research into the tangible and intangible implications of Clinical Genetic Services (CGSs) has confirmed the relevance of a multidimensional outcome of benefit conceptually linked to perceived control. This…

Continue ReadingIdentifying outcomes of clinical genetic services: qualitative evidence and methodological considerations.
Read more about the article Acaricide resistance in Tetranychus urticae (Acari: Tetranychidae) populations from Cyprus.
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Acaricide resistance in Tetranychus urticae (Acari: Tetranychidae) populations from Cyprus.

Abstract Five field and greenhouse populations of the twospotted spider mite, Tetranychus urticae Koch (Acari: Tetranychidae), were collected from five different districts across the island of Cyprus, both in field…

Continue ReadingAcaricide resistance in Tetranychus urticae (Acari: Tetranychidae) populations from Cyprus.
Read more about the article The changing epidemiology of β-thalassemia in the Greek-Cypriot population.
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The changing epidemiology of β-thalassemia in the Greek-Cypriot population.

Abstract The first epidemiological study for thalassemia in Cyprus was performed by Fawdry in 1946. The study determined that the frequency of β-thalassemia (β-thal) carriers was around 18.0% and that…

Continue ReadingThe changing epidemiology of β-thalassemia in the Greek-Cypriot population.
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.