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Πλοήγηση ανά Θέμα "DNA Copy Number Variations"

Αποτελέσματα 1-3 από 3

    • AMY1 diploid copy number among end-stage renal disease patients 

      Grammatikopoulou M.G., Gkiouras K., Markaki A.G., Gkouskou K.K., Aivaliotis M., Stylianou K., Bogdanos D.P. (2020)
      Purpose: The salivary amylase gene (AMY1) copy number variation (CNV) is increased as a human adaptation to starch-enriched nutritional patterns. The purpose of this study was to evaluate the relationship between AMY1 CNV, ...

    • Hypoxia-Inducible Factor-2-Altered Urothelial Carcinoma: Clinical and Genomic Features 

      Vlachostergios P.J., Tamposis I.A., Anagnostou M., Papathanassiou M., Mitrakas L., Zachos I., Thodou E., Samara M., Tzortzis V. (2022)
      Background: Hypoxia is recognized as a key feature of cancer growth and is involved in various cellular processes, including proliferation, angiogenesis, and immune surveillance. Besides hypoxia-inducible factor 1-alpha ...

    • Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency 

      Loules G., Zamanakou M., Parsopoulou F., Vatsiou S., Psarros F., Csuka D., Porebski G., Obtulowicz K., Valerieva A., Staevska M., López-Lera A., López-Trascasa M., Moldovan D., Magerl M., Maurer M., Speletas M., Farkas H., Germenis A.E. (2018)
      SERPING1 genotyping of subjects suspicious for hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) is important for clinical practice as well as for research reasons. Conventional approaches towards the detection ...