Ola Sandgren

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090-785 13 40

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Anknuten som forskare till Institutionen för klinisk vetenskap Enhet: Oftalmiatrik

4, 7 tr, Norrlands Universitetssjukhus, 4-751 Umeå universitet, Klinisk vetenskap, Oftalmiatrik, 901 85 Umeå

Publikationer Publikationer

ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A > G and c.5461-10T > C cause Stargardt disease due to defective splicing

Acta Ophthalmologica, John Wiley & Sons 2018, Vol. 96, (7) : 737-743

Jonsson, Frida; Westin, Ida Maria; Österman, Lennart; et al.

Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)

Human Mutation, John Wiley & Sons 2015, Vol. 36, (4) : 463-473

Jonsson, Frida; Byström, Berit; Davidson, Alice E.; et al.

Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes

Retinal Degenerative Diseases: Mechanisms and Experimental Therapy, Springer Berlin/Heidelberg 2014 : 177-183

Jonsson, Frida; Burstedt, Marie S; Sandgren, Ola; et al.

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family

European Journal of Human Genetics, Nature Publishing Group 2013, Vol. 21, (11) : 1266-1271

Jonsson, Frida; Burstedt, Marie S; Sandgren, Ola; et al.

Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation

Acta Ophthalmologica, Vol. 91, (3) : 259-266

Reinis, Ainars; Golovleva, Irina; Köhn, Linda; et al.

Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern sweden.

Advances in Experimental Medicine and Biology, Vol. 664 : 255-262

Golovleva, Irina; Köhn, Linda; Burstedt, Marie; et al.

Transthyretin-related vitreous amyloidosis in different endemic areas.

Amyloid: Journal of Protein Folding Disorders, Informa Healthcare 2010, Vol. 17, (3-4) : 105-108

Kawaji, Takahiro; Ando, Yukio; Ando, Eiko; et al.

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.

Ophthalmic Genetics, Informa Healthcare 2010, Vol. 31, (3) : 139-140

Köhn, Linda; Kohl, Susanne; Bowne, Sara J; 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, Nature publishing group 2009, Vol. 17, (5) : 651-655

Köhn, Linda; Bowne, Sara J; Daiger, Stephen P; 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, Vol. 17, (5) : 651-655

Köhn, Linda; Bowne, Sara J; S Sullivan, Lori; et al.

Effects of prolonged dark adaptation in patients with retinitis pigmentosa of Bothnia type: an electrophysiological study.

Doc Ophthalmol, Vol. 116, (3) : 193-205

Burstedt, Marie S I; Sandgren, Ola; Golovleva, Irina; 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, Association for Research in Vision and Ophthalmology 2008, Vol. 49, (7) : 3172-3177

Köhn, Linda; Burstedt, Marie SI; Jonsson, Frida; 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, Springer 2008 : 229-234

Köhn, Linda; Kadzhaev, Konstantin; Burstedt, Marie S I; et al.

Ocular manifestations in liver transplant recipients with familial amyloid polyneuropathy.

Acta ophthalmologica, Vol. 86, (5) : 520-4

Sandgren, Ola; Kjellgren, Daniel; Suhr, Ole B

Tinted contact lenses in Bothnia dystrophy.

Acta Ophthalmologica Scandinavica, Vol. 85, (5) : 534-539

Jonsson, Asa C; Burstedt, Marie S I; Golovleva, Irina; et al.

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

European Journal of Human Genetics, Nature publishing group 2007, Vol. 15, (6) : 664-671

Köhn, Linda; Kadzhaev, Konstantin; Burstedt, Marie SI; et al.

Associations between specific measures of vision and vision-related quality of life in patients with bothnia dystrophy, a defined type of retinitis pigmentosa.

Retina, Lippincott, Williams & Wilkins 2005, Vol. 25, (3) : 317-323

Burstedt, Marie S; Mönestam, Eva; Sandgren, Ola

Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome.

Journal of Medical Genetics, Vol. 42, (12) : 953-6

Holmgren, Gösta; Hellman, Urban; Lundgren, Hans-Erik; et al.

Retinal function in Bothnia dystrophy. An electrophysiological study.

Vision Research, Vol. 43, (24) : 2559-2571

Burstedt, Marie S I; Sandgren, Ola; Golovleva, Irina; et al.

Disease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactions

Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology 2003, Vol. 278, (14) : 12397-12402

Golovleva, Irina; Bhattacharya, Sanjoy; Wu, Zhiping; et al.

Characterisation of two highly amyloidogenic mutants of transthyretin

Biochemistry, American Chemical Society (ACS) 1997, Vol. 36, (18) : 5346-5352

Goldsteins, Gundars; Andersson, Karin; Olofsson, Anders; et al.

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