Multifocal electroretinography in patients with Stargardt's macular dystrophy

Por Kretschmann, U, Seeliger, M, Ruether, K, Usui, T, Apfelstedt-Sylla, E, Zrenner, E
Publicado em 1998

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

Por Apfelstedt-Sylla, E, Theischen, M, Rüther, K, Wedemann, H, Gal, A, Zrenner, E
Publicado em 1995

A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.

Por Felbor, U, Stöhr, H, Amann, T, Schönherr, U, Apfelstedt-Sylla, E, Weber, B H
Publicado em 1996

Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.

Por Apfelstedt-Sylla, E, Kunisch, M, Horn, M, Rüther, K, Gerding, H, Gal, A, Zrenner, E
Publicado em 1993

RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

Por Kohl, S, Christ-Adler, M, Apfelstedt-Sylla, E, Kellner, U, Eckstein, A, Zrenner, E, Wissinger, B
Publicado em 1997

A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa

Por Dietrich, K, Jacobi, F K, Tippmann, S, Schmid, R, Zrenner, E, Wissinger, B, Apfelstedt-Sylla, E
Publicado em 2002