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Parcourir par sujet "founder effect"

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    • BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects 

      Apostolou P., Fostira F., Kouroussis C., Kalfakakou D., Delimitsou A., Agelaki S., Androulakis N., Christodoulou C., Kalbakis K., Kalykaki A., Sanidas E., Papadimitriou C., Vamvakas L., Georgoulias V., Mavroudis D., Yannoukakos D., Konstantopoulou I., Saloustros E. (2020)
      Germline BRCA1 and BRCA2 loss-of-function variants have been linked to increased breast and ovarian cancer risk, with more than 5,000 distinct pathogenic variants being reported worldwide. Among individuals of Greek descent, ...

    • Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients 

      Mitropoulos K., Papadima E.M., Xiromerisiou G., Balasopoulou A., Charalampidou K., Galani V., Zafeiri K.-V., Dardiotis E., Ralli S., Deretzi G., John A., Kydonopoulou K., Papadopoulou E., Di Pardo A., Akcimen F., Loizedda A., Dobriĉić V., Novaković I., Kostic V.S., Mizzi C., Peters B.A., Basak N., Orrù S., Kiskinis E., Cooper D.N., Gerou S., Drmanac R., Bartsakoulia M., Tsermpini E.-E., Hadjigeorgiou G.M., Ali B.R., Katsila T., Patrinos G.P. (2017)
      Background: Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted ...