1 to 4 of 4 literature results

• Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

  Walker-Warburg syndrome (WWS) is a genetically heterogeneous autosomal recessive disease characterized by congenital muscular dystrophy, cobblestone l…

  Authors: M Chiara Manzini, Danielle Gleason, Bernard S Chang, R Sean Hill, Brenda J Barry, Jennifer N Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin-Parton, Lawrence R Shapiro,…

  Source: Human mutation. 2008 Nov

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• Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

  Walker-Warburg syndrome (WWS) is an autosomal recessive developmental disorder characterized by congenital muscular dystrophy and complex brain and ey…

  Authors: Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, Jacopo Celli, Ellen van Beusekom, Bert van der Zwaag, Hülya Kayserili, Luciano Merlini, David Chitayat, William B Dobyns,…

  Source: American journal of human genetics. 2002 Nov

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• RecN and RecG are required for Escherichia coli survival of Bleomycin-induced damage.

  The sensitivity of a panel of DNA repair-defective bacterial strains to BLM was investigated. Escherichia coli recA cells were far more sensitive than…

  Authors: Jessica L Kosa, Zoran Z Zdraveski, Sophie Currier, Martin G Marinus, John M Essigmann

  Source: Mutation research. 2004 Oct 4

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• EMX2-independent familial schizencephaly: clinical and genetic analyses.

  Schizencephaly is a human brain malformation distinguished by full-thickness unilateral or bilateral clefts through the neocortex. Heterozygous mutati…

  Authors: Ian Tietjen, Füsun Erdogan, Sophie Currier, Kira Apse, Bernard S Chang, R Sean Hill, Christine K Lee, Christopher A Walsh

  Source: American journal of medical genetics. Part A. 2005 Jun 1

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