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Πλοήγηση ανά Θέμα "SEQUENCE VARIANTS"

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    • Assessment of Osteoarthritis Candidate Genes in a Meta-Analysis of Nine Genome-Wide Association Studies 

      Rodriguez-Fontenla, C.; Calaza, M.; Evangelou, E.; Valdes, A. M.; Arden, N.; Blanco, F. J.; Carr, A.; Chapman, K.; Deloukas, P.; Doherty, M.; Esko, T.; Aleta, C. M. G.; Carnota, Jjgr; Helgadottir, H.; Hofman, A.; Jonsdottir, I.; Kerkhof, H. J. M.; Kloppenburg, M.; McCaskie, A.; Ntzani, E. E.; Ollier, W. E. R.; Oreiro, N.; Panoutsopoulou, K.; Ralston, S. H.; Ramos, Y. F.; Riancho, J. A.; Rivadeneira, F.; Slagboom, P. E.; Styrkarsdottir, U.; Thorsteinsdottir, U.; Thorleifsson, G.; Tsezou, A.; Uitterlinden, A. G.; Wallis, G. A.; Wilkinson, J. M.; Zhai, G. J.; Zhu, Y. Y.; Felson, D. T.; Ioannidis, J. P. A.; Loughlin, J.; Metspalu, A.; Meulenbelt, I.; Stefansson, K.; van Meurs, J. B.; Zeggini, E.; Spector, T. D.; Gonzalez, A.; arc, Ogen Consortium (2014)
      Objective. To assess candidate genes for association with osteoarthritis (OA) and identify promising genetic factors and, secondarily, to assess the candidate gene approach in OA. Methods. A total of 199 candidate genes ...

    • Association of repeat polymorphisms in the estrogen receptors alpha, beta (ESR1, ESR2) and androgen receptor (AR) genes with the occurrence of breast cancer 

      Tsezou, A.; Tzetis, M.; Gennatas, C.; Giannatou, E.; Pampanos, A.; Malamis, G.; Kanavakis, E.; Kitsiou, S. (2008)
      Genetic variation in genes involved in estrogen biosynthesis, metabolism and signal transduction have been suggested to play a role in breast cancer. To determine the possible contribution of genetic variation in the ESR1 ...

    • THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations 

      Xiromerisiou, G.; Houlden, H.; Scarmeas, N.; Stamelou, M.; Kara, E.; Hardy, J.; Lees, A. J.; Korlipara, P.; Limousin, P.; Paudel, R.; Hadjigeorgiou, G. M.; Bhatia, K. P. (2012)
      THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been ...