Now showing items 1-3 of 3

    • Cellular Interference in Craniofrontonasal Syndrome: Males Mosaic for Mutations in the X-Linked EFNB1 Gene Are More Severely Affected than True Hemizygotes 

      Twigg, Stephen R.F.; Babbs, Christian; van den Elzen, Marijke E.P.; Goriely, Anne; McGowan, Simon J.; Giannoulatou, Eleni; Lonie, Lorne; Ragoussis, Jiannis; Akha, Elham Sadighi; Knight, Samantha J.L.; Zechi-Ceide, Roseli M.; Hoogeboom, Jeannette A.M.; Toriello, Helga V.; Wall, Steven A.; Rita Passos-Bueno, M.; Brunner, Han G.; Mathijssen, Irene M.J.; Wilkie, Andrew O.M.; Pober, Barbara R.; Taylor, Stephen (Oxford University Press, 2013)
      Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, ...
    • Fog2 is required for normal diaphragm and lung development in mice and humans 

      Ackerman, Kate G; Herron, Bruce J; Huang, Hailu; Tevosian, Sergei G; Kochilas, Lazaros; Rao, Cherie; Babiuk, Randal P; Epstein, Jonathan A; Greer, John J; Vargas, Sara Oakes; Pober, Barbara R.; Beier, David Randolph (Public Library of Science, 2005)
      Congenital diaphragmatic hernia and other congenital diaphragmatic defects are associated with significant mortality and morbidity in neonates; however, the molecular basis of these developmental anomalies is unknown. In ...
    • Functional Analysis of a Novel Potassium Channel (KCNA1) Mutation in Hereditary Mokymia 

      Chen, Haijun; von Hehn, Christian A.; Kaczmarek, Leonard K.; Ment, Laura R.; Pober, Barbara R.; Hisama, Fuki Marie (Springer-Verlag, 2007)
      Myokymia is characterized by spontaneous, involuntary muscle fiber group contraction visible as vermiform movement of the overlying skin. Myokymia with episodic ataxia is a rare, autosomal dominant trait caused by mutations ...