Ruth Riise

Summary

Country: Norway

Publications

  1. ncbi request reprint The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene
    Ruth Riise
    Department of Ophthalmology, Central Hospital of Hedmark, 2326 Hamar, Norway
    Arch Ophthalmol 120:1364-7. 2002
  2. ncbi request reprint [Visual problems in cerebral stroke]
    Ruth Riise
    Øyeavdelingen, Sykehuset Innlandet, 2326 Hamar
    Tidsskr Nor Laegeforen 125:176-7. 2005
  3. ncbi request reprint Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study
    Ruth Riise
    Department of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway
    Acta Ophthalmol Scand 85:557-62. 2007
  4. doi request reprint Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene
    Kaja Kristine Selmer
    Department of Medical Genetics, Ulleval University Hospital, Oslo, Norway
    Acta Ophthalmol 88:323-8. 2010
  5. ncbi request reprint Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F
    Jan Grøndahl
    Department of Medical Genetics, University Hospital, Rikshospitalet, Oslo, Norway
    Acta Ophthalmol Scand 85:287-97. 2007
  6. pmc 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
  7. ncbi request reprint [Ocular changes in Down syndrome]
    Olav H Haugen
    Øyeavdelingen, Haukeland Universitetssykehus, 5021 Bergen
    Tidsskr Nor Laegeforen 124:186-8. 2004
  8. ncbi request reprint The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46
    Lars 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

Collaborators

Detail Information

Publications8

  1. ncbi request reprint The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene
    Ruth 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...
  2. ncbi request reprint [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...
  3. ncbi request reprint Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study
    Ruth 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...
  4. doi request reprint Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene
    Kaja 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...
  5. ncbi request reprint Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F
    Jan 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...
  6. pmc 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...
  7. ncbi request reprint [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...
  8. ncbi request reprint The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46
    Lars 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...