Satoko Shimizu

Summary

Publications

  1. ncbi request reprint A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy
    Satoko Shimizu
    Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan
    Am J Ophthalmol 135:256-7. 2003
  2. ncbi request reprint A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1
    Satoko Shimizu
    Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan
    Jpn J Ophthalmol 46:336-40. 2002
  3. ncbi request reprint [A novel mutation of the type 1 optic atrophy(OPA1) gene in a Japanese family with OPA1]
    Satoko Shimizu
    Department of Ophthalmology, Teikyo University School of Medicine, 2 11 1 Kaga, Itabashi ku, Tokyo 173 8605, Japan
    Nihon Ganka Gakkai Zasshi 106:398-403. 2002
  4. ncbi request reprint Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles
    Satoko Shimizu
    Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan
    Jpn J Ophthalmol 49:443-7. 2005
  5. doi request reprint Vestibular dysfunction in a Japanese patient with a mutation in the gene OPA1
    Kunio Mizutari
    Department of Otolaryngology, Keio University School of Medicine, Tokyo, Japan
    J Neurol Sci 293:23-8. 2010
  6. ncbi request reprint Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy
    Sayoko E Moroi
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA
    Am J Ophthalmol 135:461-70. 2003
  7. pmc A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10
    Satoko Shimizu
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
    Am J Med Genet A 130:372-7. 2004

Detail Information

Publications7

  1. ncbi request reprint A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy
    Satoko Shimizu
    Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan
    Am J Ophthalmol 135:256-7. 2003
    ..To report a novel mutation of the OPA1 gene in a Japanese patient with optic atrophy and to describe the clinical features of the patient...
  2. ncbi request reprint A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1
    Satoko Shimizu
    Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan
    Jpn J Ophthalmol 46:336-40. 2002
    ..To report a novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1 (OPA1) and to describe the clinical features of this family...
  3. ncbi request reprint [A novel mutation of the type 1 optic atrophy(OPA1) gene in a Japanese family with OPA1]
    Satoko Shimizu
    Department of Ophthalmology, Teikyo University School of Medicine, 2 11 1 Kaga, Itabashi ku, Tokyo 173 8605, Japan
    Nihon Ganka Gakkai Zasshi 106:398-403. 2002
    ..To report a novel mutation of the type1 optic atrophy(OPA1) gene in a Japanese family with OPA1 and to describe the clinical features of this family...
  4. ncbi request reprint Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles
    Satoko Shimizu
    Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan
    Jpn J Ophthalmol 49:443-7. 2005
    ..To report recurrent mutation of the KIF21A gene in three Japanese families in which some members have congenital fibrosis of the extraocular muscles type 1 (CFEOM1), and to describe the clinical characteristics of the families...
  5. doi request reprint Vestibular dysfunction in a Japanese patient with a mutation in the gene OPA1
    Kunio Mizutari
    Department of Otolaryngology, Keio University School of Medicine, Tokyo, Japan
    J Neurol Sci 293:23-8. 2010
    ..Based on this case, we suggest that vestibular evaluation should be performed in auditory neuropathy patients carrying an OPA1 mutation, even if the patients are free of symptoms of vestibular dysfunction...
  6. ncbi request reprint Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy
    Sayoko E Moroi
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA
    Am J Ophthalmol 135:461-70. 2003
    ..To evaluate the clinical history, histopathology, and genetics of posterior polymorphous corneal dystrophy (PPMD) in a woman with a prominent retrocorneal membrane...
  7. pmc A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10
    Satoko Shimizu
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
    Am J Med Genet A 130:372-7. 2004
    ....