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Listar por tema "autosomal dominant inheritance"

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    • Clinical immunology quiz-Case 6 

      Speletas, M.; Boukas, K.; Louies, G.; Germenis, A. E. (2009)

    • Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration 

      Ratnapriya, R.; Zhan, X.; Fariss, R. N.; Branham, K. E.; Zipprer, D.; Chakarova, C. F.; Sergeev, Y. V.; Campos, M. M.; Othman, M.; Friedman, J. S.; Maminishkis, A.; Waseem, N. H.; Brooks, M.; Rajasimha, H. K.; Edwards, A. O.; Lotery, A.; Klein, B. E.; Truitt, B. J.; Li, B.; Schaumberg, D. A.; Morgan, D. J.; Morrison, M. A.; Souied, E.; Tsironi, E. E.; Grassmann, F.; Fishman, G. A.; Silvestri, G.; Scholl, H. P. N.; Kim, I. K.; Ramke, J.; Tuo, J.; Merriam, J. E.; Merriam, J. C.; Park, K. H.; Olson, L. M.; Farrer, L. A.; Johnson, M. P.; Peachey, N. S.; Lathrop, M.; Baron, R. V.; Igo, R. P.; Klein, R.; Hagstrom, S. A.; Kamatani, Y.; Martin, T. M.; Jiang, Y.; Conley, Y.; Sahel, J. A.; Zack, D. J.; Chan, C. C.; Pericak-Vance, M. A.; Jacobson, S. G.; Gorin, M. B.; Klein, M. L.; Allikmets, R.; Iyengar, S. K.; Weber, B. H.; Haines, J. L.; Léveillard, T.; Deangelis, M. M.; Stambolian, D.; Weeks, D. E.; Bhattacharya, S. E.; Chew, E. Y.; Heckenlively, J. R.; Abecasis, G. R.; Swaroop, A. (2014)
      Neurodegenerative diseases affecting the macula constitute amajor cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial lateonset ...

    • Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13 

      Kemlink, D.; Plazzi, G.; Vetrugno, R.; Provini, F.; Polo, O.; Stiasny-Kolster, K.; Oertel, W.; Nevsimalova, S.; Sonka, K.; Högl, B.; Frauscher, B.; Hadjigeorgiou, G. M.; Pramstaller, P. P.; Lichtner, P.; Meitinger, T.; Müller-Myshok, B.; Winkelmann, J.; Montagna, P. (2008)
      Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. ...