11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

Por Almind, Gitte J, Brøndum-Nielsen, Karen, Bangsgaard, Regitze, Baekgaard, Peter, Grønskov, Karen
Publicado em 2009

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

Por Almind, Gitte J, Grønskov, Karen, Milea, Dan, Larsen, Michael, Brøndum-Nielsen, Karen, Ek, Jakob
Publicado em 2011

Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

Por Almind, Gitte J, Ek, Jakob, Rosenberg, Thomas, Eiberg, Hans, Larsen, Michael, LuCamp, LuCamp, Brøndum-Nielsen, Karen, Grønskov, Karen
Publicado em 2012

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

Por Sitarz, Kamil S., Almind, Gitte J., Horvath, Rita, Czermin, Birgit, Grønskov, Karen, Pyle, Angela, Taylor, Robert W., Larsen, Michael, Chinnery, Patrick F., Yu-Wai-Man, Patrick
Publicado em 2012