Now showing items 1-2 of 2

    • Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance 

      Barber, J. C.; Rosenfeld, J. A.; Graham, J. M.; Kramer, N.; Lachlan, K. L.; Bateman, M. S.; Collinson, M. N.; Stadheim, B. F.; Turner, Claire L.; Gauthier, J. N.; Reimschisel, T. E.; Qureshi, A. M.; Dabir, T. A.; Humphreys, M. W.; Marble, M.; Huang, T.; Beal, S. J.; Massiah, J.; Taylor, E. J.; Wynn, S. L. (Wiley, 2015-06-11)
      The 8p23.1 duplication syndrome (8p23.1 DS) is a recurrent genomic condition with an estimated prevalence of 1 in 58,000. The core 3.68 Mb duplication contains 32 genes of which five are currently candidates for the ...
    • Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 

      Fergelot, P.; Van Belzen, M.; Van Gils, J.; Afenjar, A.; Armour, C. M.; Arveiler, B.; Beets, L.; Burglen, L.; Busa, T.; Collet, M.; Deforges, J.; de Vries, B. B. A.; Dominguez Garrido, E.; Dorison, N.; Dupont, J.; Francannet, C.; Garciá-Minaúr, S.; Gabau Vila, E.; Gebre-Medhin, S.; Gener Querol, B.; Geneviève, D.; Gérard, M.; Gervasini, C. G.; Goldenberg, A.; Josifova, D.; Lachlan, K. L.; Maas, S.; Maranda, B.; Moilanen, J. L.; Nordgren, A.; Parent, P.; Rankin, Julia; Reardon, W.; Rio, M.; Roume, J.; Shaw, A.; Smigiel, R.; Sojo, A.; Solomon, B.; Stembalska, A.; Stumpel, C.; Suarez, F.; Terhal, P.; Thomas, S.; Touraine, R.; Verloes, A.; Vincent-Delorme, C.; Wincent, J.; Peters, D. J. M.; Bartsch, O.; Larizza, L.; Lacombe, D.; Hennekam, R. C. (Wiley, 2016-09-20)
      Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, ...