List of works - Ola Sandgren

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

scientific article published on 20 February 2018

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

scientific article

Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

scientific article published on 03 December 2008

Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.

scientific article

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

scientific article (publication date: 4 April 2003)

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

scientific article

Genetic Heterogeneity and Clinical Outcome in a Swedish Family with Retinal Degeneration Caused by Mutations in CRB1 and ABCA4 Genes

article

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

scientific article published in January 2008

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

article

Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden

scientific article

Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).

scientific article published in April 2015

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

scientific article published on 27 February 2013

Ocular manifestations in liver transplant recipients with familial amyloid polyneuropathy

scientific article published on 24 April 2008

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

scientific article

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

scientific article published on September 2010

Retinal function in Bothnia dystrophy. An electrophysiological study

scientific article

Tinted contact lenses in Bothnia dystrophy

scientific article published on 22 March 2007

Transthyretin-related vitreous amyloidosis in different endemic areas

scientific article

Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study ⬇️

scientific article published on December 1, 1991

List of works by Ola Sandgren

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

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

Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.

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

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

Genetic Heterogeneity and Clinical Outcome in a Swedish Family with Retinal Degeneration Caused by Mutations in CRB1 and ABCA4 Genes

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

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

Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden

Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).

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

Ocular manifestations in liver transplant recipients with familial amyloid polyneuropathy

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

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

Retinal function in Bothnia dystrophy. An electrophysiological study

Tinted contact lenses in Bothnia dystrophy

Transthyretin-related vitreous amyloidosis in different endemic areas

Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study ⬇️