JAYNE WEISS

Summary

Affiliation: Wayne State University
Country: USA

Publications

  1. ncbi Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy
    Jayne S Weiss
    Kresge Eye Institute, The Department of Ophthalmology, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Invest Ophthalmol Vis Sci 48:5007-12. 2007
  2. ncbi Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function
    Jayne S Weiss
    Kresge Eye Institute, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    Am J Med Genet A 146:271-83. 2008
  3. ncbi The IC3D classification of the corneal dystrophies
    Jayne S Weiss
    Department of Ophthalmology, Kresge Eye Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Cornea 27:S1-83. 2008
  4. ncbi Schnyder corneal dystrophy
    Jayne S Weiss
    Kresge Eye Institute, Wayne State University School of Medicine, Detroit, Michigan 48302, USA
    Curr Opin Ophthalmol 20:292-8. 2009
  5. ncbi Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy
    Jayne S Weiss
    Jayne S Weiss MD Kresge Eye Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Cornea 29:777-80. 2010
  6. ncbi [The IC3D classification of the corneal dystrophies]
    J S Weiss
    Kresge Eye Institute, Departments of Ophthalmology and Pathology, Wayne State University School of Medicine, Detroit, Michigan, USA
    Klin Monbl Augenheilkd 228:S1-39. 2011
  7. ncbi Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis)
    Jayne S Weiss
    Kresge Eye Institute, Department of Ophthalmology, Wayne State University School of Medicine, Detroit, Michigan, USA
    Trans Am Ophthalmol Soc 105:616-48. 2007
  8. ncbi Fine mapping of the Schnyder's crystalline corneal dystrophy locus
    Veena Theendakara
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Hum Genet 114:594-600. 2004

Research Grants

  1. THE GENE FOR SCHNYDER'S CRYSTALLINE CORNEAL DYSTROPHY
    JAYNE WEISS; Fiscal Year: 2002

Collaborators

Detail Information

Publications8

  1. ncbi Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy
    Jayne S Weiss
    Kresge Eye Institute, The Department of Ophthalmology, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Invest Ophthalmol Vis Sci 48:5007-12. 2007
    ..Three candidate genes that may be involved in lipid metabolism and/or are expressed in the cornea were analyzed...
  2. ncbi Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function
    Jayne S Weiss
    Kresge Eye Institute, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    Am J Med Genet A 146:271-83. 2008
    ..Protein analysis revealed structural and functional implications of SCCD mutations which may affect UBIAD1 function, ligand binding and interaction with binding partners, like apo E...
  3. ncbi The IC3D classification of the corneal dystrophies
    Jayne S Weiss
    Department of Ophthalmology, Kresge Eye Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Cornea 27:S1-83. 2008
    ..Abnormalities in different genes can cause a single phenotype, whereas different defects in a single gene can cause different phenotypes. Some disorders termed corneal dystrophies do not appear to have a genetic basis...
  4. ncbi Schnyder corneal dystrophy
    Jayne S Weiss
    Kresge Eye Institute, Wayne State University School of Medicine, Detroit, Michigan 48302, USA
    Curr Opin Ophthalmol 20:292-8. 2009
    ..The present review of Schnyder corneal dystrophy (SCD) corrects the misconceptions in the published literature about this disease. Understanding the clinical findings facilitates diagnosis of the dystrophy...
  5. ncbi Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy
    Jayne S Weiss
    Jayne S Weiss MD Kresge Eye Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Cornea 29:777-80. 2010
    ....
  6. ncbi [The IC3D classification of the corneal dystrophies]
    J S Weiss
    Kresge Eye Institute, Departments of Ophthalmology and Pathology, Wayne State University School of Medicine, Detroit, Michigan, USA
    Klin Monbl Augenheilkd 228:S1-39. 2011
    ..Abnormalities in different genes can cause a single phenotype, whereas different defects in a single gene can cause different phenotypes. Some disorders termed corneal dystrophies do not appear to have a genetic basis...
  7. ncbi Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis)
    Jayne S Weiss
    Kresge Eye Institute, Department of Ophthalmology, Wayne State University School of Medicine, Detroit, Michigan, USA
    Trans Am Ophthalmol Soc 105:616-48. 2007
    ..To assess the findings, visual morbidity, and surgical intervention in Schnyder crystalline corneal dystrophy (SCCD)...
  8. ncbi Fine mapping of the Schnyder's crystalline corneal dystrophy locus
    Veena Theendakara
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Hum Genet 114:594-600. 2004
    ..32 Mbp between markers D1S1160 and D1S1635. Within this interval, identity-by-state was present in all 13 families for two markers D1S244 and D1S3153, further refining the candidate region to 1.58 Mbp...

Research Grants3

  1. THE GENE FOR SCHNYDER'S CRYSTALLINE CORNEAL DYSTROPHY
    JAYNE WEISS; Fiscal Year: 2002
    ..abstract_text> ..