Lista de obras -

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation

artículo científico publicado en 2010

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

artículo científico publicado en 2003

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

artículo científico publicado en 2007

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

article

Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2010

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

scientific article published on 22 August 2018

Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in causing severe retinitis pigmentosa

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

artículo científico publicado en 2013

Qualitative Interviews to Better Understand the Patient Experience and Evaluate Patient-Reported Outcomes (PRO) in RLBP1 Retinitis Pigmentosa (RLBP1 RP)

artículo científico publicado en 2020

Retinal function in Bothnia dystrophy. An electrophysiological study

artículo científico publicado en 2003

Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study

artículo científico publicado en 2008

Self-reported quality of life in patients with retinitis pigmentosa and maculopathy of Bothnia type

artículo científico publicado en 2010

The response of the neuronal adaptive system to background illumination and readaptation to dark in the immature retina

artículo científico publicado en 2014

Tinted contact lenses in Bothnia dystrophy

artículo científico publicado en 2007

Lista de obras de

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.

Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation

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

Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.

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 the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in causing severe retinitis pigmentosa

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

Qualitative Interviews to Better Understand the Patient Experience and Evaluate Patient-Reported Outcomes (PRO) in RLBP1 Retinitis Pigmentosa (RLBP1 RP)

Retinal function in Bothnia dystrophy. An electrophysiological study

Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study

Self-reported quality of life in patients with retinitis pigmentosa and maculopathy of Bothnia type

The response of the neuronal adaptive system to background illumination and readaptation to dark in the immature retina

Tinted contact lenses in Bothnia dystrophy