- The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 geneRuth Riise
Department of Ophthalmology, Central Hospital of Hedmark, 2326 Hamar, Norway
Arch Ophthalmol 120:1364-7. 2002..To describe the phenotype of the Bardet-Biedl syndrome in patients with mutations in the BBS4 gene...
- [Visual problems in cerebral stroke]Ruth Riise
Øyeavdelingen, Sykehuset Innlandet, 2326 Hamar
Tidsskr Nor Laegeforen 125:176-7. 2005..We wanted to estimate the frequency of a visual field defect being detected in patients with cerebral stroke during their stay in a medical department...
- Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort studyRuth Riise
Department of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway
Acta Ophthalmol Scand 85:557-62. 2007..To describe the outcome of ophthalmologic examination of 10 Norwegian children with ataxia-telangiectasia (AT) followed through 5 years...
- Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS geneKaja Kristine Selmer
Department of Medical Genetics, Ulleval University Hospital, Oslo, Norway
Acta Ophthalmol 88:323-8. 2010..This study aimed to identify the genetic cause of autosomal dominant pericentral retinal dystrophy (adPRD) in a large Norwegian family with 35 affected members...
- Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179FJan Grøndahl
Department of Medical Genetics, University Hospital, Rikshospitalet, Oslo, Norway
Acta Ophthalmol Scand 85:287-97. 2007..To examine the clinical picture and molecular genetics of 12 Norwegian families with autosomal dominant retinitis pigmentosa (adRP) in order to achieve a genotype-phenotype correlation...
- Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn
Department of Pediatrics, Division of Medical Genetics, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA, 52242, USA
Am J Hum Genet 72:429-37. 2003..We show that the BBS1 gene is highly conserved between mice and humans. Finally, we demonstrate that BBS1 is inherited in an autosomal recessive manner and is rarely, if ever, involved in complex inheritance...
- [Ocular changes in Down syndrome]Olav H Haugen
Øyeavdelingen, Haukeland Universitetssykehus, 5021 Bergen
Tidsskr Nor Laegeforen 124:186-8. 2004..The aim of this paper is to give an updated short survey of ocular changes present in Down's syndrome based on current international literature and the clinical experience of the authors...
- The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46Lars Hansen
The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark
Mol Vis 12:1033-9. 2006..We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated gene...