Listar Medicina, ciencias biomédicas y salud pública por autor "Weber, Bernhard H. F."

Mostrando ítems 1-2 de 2

    • Heterozygous Loss-of-Function Variants in CYP1B1 Predispose to Primary Open-Angle Glaucoma 

      Passuto, Francesca; Chavarría Soley, Gabriela; Mardin, Christian Y.; Michels Rautenstrauss, Karin G.; Ingelman Sundberg, Magnus; Fernández Martínez, Lorena; Weber, Bernhard H. F.; Rautenstrauss, Bernd; Reis, André (2010-01)
      Purpose.: Although primary congenital glaucoma (PCG)–associated CYP1B1 mutations in the heterozygous state have been evaluated for association with primary open-angle glaucoma (POAG) in several small studies, their ...

    • Profiling of WDR36 Missense Variants in German Patients with Glaucoma 

      Passuto, Francesca; Mardin, Christian Y.; Michels Rautenstrauss, Karin G.; Weber, Bernhard H. F.; Sticht, Heinrich; Chavarría Soley, Gabriela; Rautenstrauss, Bernd; Kruse, Friedrich; Reis, André (2008-02)
      PURPOSE. Mutations in WDR36 were recently reported in patients with adult-onset primary open-angle glaucoma (POAG). In this study, the prevalence of WDR36 variants was investigated in patients with glaucoma who were of ...