Reinis, Ainars Golovleva, Irina Köhn, Linda; et al.
|
Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation
Acta Ophthalmologica,
91(3): 259-266
|
2013
|
-
|
Kawaji, Takahiro Ando, Yukio Ando, Eiko; et al.
|
Transthyretin-related vitreous amyloidosis in different endemic areas.
Amyloid,
17(3-4): 105-108
|
2010
|
-
|
Golovleva, Irina Köhn, Linda Burstedt, Marie; et al.
|
Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern sweden.
Advances in Experimental Medicine and Biology,
664: 255-262
|
2010
|
-
|
Köhn, Linda Kohl, Susanne Bowne, Sara J; et al.
|
PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.
Ophthalmic Genetics,
31(3): 139-140
|
2010
|
-
|
Köhn, Linda Bowne, Sara J S Sullivan, Lori; et al.
|
Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.
European Journal of Human Genetics,
17(5): 651-655
|
2009
|
-
|
Köhn, Linda Bowne, Sara J Daiger, Stephen P; et al.
|
Breakpoint characterization of a novel ~59 kb genomic deletion on 19q13.42 in autosomal dominant retinitis pigmentosa with reduced penetrance
European Journal of Human Genetics,
17(5): 651-655
|
2009
|
-
|
Burstedt, Marie S I Sandgren, Ola Golovleva, Irina; et al.
|
Effects of prolonged dark adaptation in patients with retinitis pigmentosa of Bothnia type: an electrophysiological study.
Doc Ophthalmol,
116(3): 193-205
|
2008
|
-
|
Sandgren, Ola Kjellgren, Daniel Suhr, Ole B
|
Ocular manifestations in liver transplant recipients with familial amyloid polyneuropathy.
Acta ophthalmologica,
86(5): 520-4
|
2008
|
-
|
Köhn, Linda Burstedt, Marie SI Jonsson, Frida; et al.
|
Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1
Investigative Ophthalmology and Visual Science,
49(7): 3172-3177
|
2008
|
-
|
Köhn, Linda Kadzhaev, Konstantin Burstedt, Marie S I; et al.
|
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
Recent Advances in Retinal Degeneration: 229-234
|
2008
|
-
|