Now showing items 1-3 of 3

    • Cerebral air embolism from angioinvasive cavitary aspergillosis. 

      Lin, C; Barrio, George Anthony; Hurwitz, LM; Kranz, Peter George (Case Rep Neurol Med, 2014)
      Background. Nontraumatic cerebral air embolism cases are rare. We report a case of an air embolism resulting in cerebral infarction related to angioinvasive cavitary aspergillosis. To our knowledge, there have been no previous ...
    • Gender and age interact to affect early outcome after intracerebral hemorrhage. 

      Gray, MC; Hailey, CE; James, Michael Lucas; Kranz, Peter George; Laskowitz, Daniel Todd; McDonagh, DL; Phillips-Bute, Barbara Gottfried; ... (10 authors) (PLoS One, 2013)
      BACKGROUND: Intracerebral hemorrhage (ICH) is a common and devastating form of cerebrovascular disease. In ICH, gender differences in outcomes remain relatively understudied but have been examined in other neurological ...
    • Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. 

      Bellet, Jane; Del Gaudio, Daniela; El-Dairi, Mays; Goldstein, David Benjamin; Hendon, Laura G; Horn, Sarah; Jasien, Joan M; ... (30 authors) (Genetics in medicine : official journal of the American College of Medical Genetics, 2018-04)
      PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with ...