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Journal Articles (5)
Meeting Abstract (5)

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Investigative Ophthalmology & Visual Science (10)

Article Type

ARVO Annual Meeting Abstract (5)
Genetics (2)
Retina (2)
Biochemistry and Molecular Biology (1)

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Genetics (5)
Eye Anatomy and Disorders (3)
Biochemistry and Molecular Biology (2)
Retina (2)
Cornea (1)
Immunology and Microbiology (1)

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family (4)
genes (2)
mutation (2)
age-related macular degeneration (1)
choroidal neovascularization (1)
choroideremia (1)
cornea (1)
disease susceptibility (1)
eye (1)
familial exudative vitreoretinopathies (1)

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Genetics March 2017

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression

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Daniel R. Evans; Jane S. Green; Gordon J. Johnson; Jeremy Schwartzentruber; Jacek Majewski; Chandree L. Beaulieu; Wen Qin; Christian R. Marshall; Tara A. Paton; Nicole M. Roslin; Andrew D. Paterson; Somayyeh Fahiminiya; Justin French; Kym M. Boycott; Michael O. Woods; for the FORGE Canada Consortium
TAGS: mertk gene, retinitis pigmentosa, family
Invest. Ophthalmol. Vis. Sci.. 2017; 58(3):1736-1742. doi: https://doi.org/10.1167/iovs.16-20864

Includes: Supplemental Content

Genetics February 2017

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

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Vafa Keser; Ayesha Khan; Sorath Siddiqui; Irma Lopez; Huanan Ren; Raheel Qamar; Javad Nadaf; Jacek Majewski; Rui Chen; Robert K. Koenekoop
TAGS: family, genes, genetics, mutation, phenotype, retinal detachment, tissue dissection, homozygote, familial exudative vitreoretinopathies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(2):1028-1036. doi: https://doi.org/10.1167/iovs.16-20281

Retina December 2015

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

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Alice Yang Zhang; Naveen Mysore; Hojatollah Vali; Jamie Koenekoop; Sang Ni Cao; Shen Li; Huanan Ren; Vafa Keser; Irma Lopez-Solache; Sorath Noorani Siddiqui; Ayesha Khan; Jeannie Mui; Kelly Sears; Jim Dixon; Jeremy Schwartzentruber; Jacek Majewski; Nancy Braverman; Robert K. Koenekoop
TAGS: choroideremia, fatty acids, lipids, lymphocytes, plasma, systemic disease, tissue membrane
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8158-8165. doi: https://doi.org/10.1167/iovs.14-15751

ARVO Annual Meeting Abstract March 2012

Identification of a new gene for Autosomal Recessive Retinitis Pigmentosa (arRP)

Razek Georges Coussa; Huanan Ren; Irma Lopez; Vafa Keser; Jeremy Schwartzentruber; Edgar A. Otto; Heon-Yung Gee; Jacek Majewski; Friedhelm Hildebrandt; Robert K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1731. doi:

ARVO Annual Meeting Abstract March 2012

A New Gene for Crystalline Retinal Dystrophy on the X Chromosome

Naveen Mysore; Ahmed A. Basheikh; Huanan Ren; Jeremy Schwartzentruber; Vafa Kesar; Qing Fu; Ayesha Khan; Irma Lopez-Solache; Jacek Majewski; Robert K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4539. doi:

ARVO Annual Meeting Abstract April 2011

A New Ocular Phenotype Associated With An Unexpected, But Known Systemic Disorder And Mutation: Novel Use Of Genomic Diagnostics And Exome Sequencing

Irma Lopez-Solache; Zibo Wang; Ren Huanan; Leah Wood; Grant Mitchel; Racine Julie; Nancy Braverman; Jacek Majewski; Robert K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):63. doi:

ARVO Annual Meeting Abstract April 2011

Variants Of Anterior Segment Dysgenesis In A Large Family With A Novel COL4A1 Mutation

Eyvind Rodahl; Per M. Knappskog; Jacek Majewski; Wenche Telstad; Jostein Kråkenes; Helge Boman

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):68. doi:

ARVO Annual Meeting Abstract April 2011

Combining Homozygosity Mapping With Exome Capture To Identify The Causal Gene For Pericentral Retinitis Pigmentosa

Amer Omar; Zibo Wang; Julie Racine; Alessandro Iannaccone; Irma Lopez; Anneke den Hollander; Jacek Majewski; Robert K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):70. doi:

Retina December 2006

Expanded Genome Scan in Extended Families with Age-Related Macular Degeneration

PDF

Sandra Barral; Peter J. Francis; Dennis W. Schultz; Mitchell B. Schain; Chad Haynes; Jacek Majewski; Jurg Ott; Ted Acott; Richard G. Weleber; Michael L. Klein
TAGS: age-related macular degeneration, family, genome, choroidal neovascularization, lod score, disease susceptibility
Invest. Ophthalmol. Vis. Sci.. 2006; 47(12):5453-5459. doi: https://doi.org/10.1167/iovs.06-0655

Biochemistry and Molecular Biology February 2005

Congenital Stromal Dystrophy of the Cornea Caused by a Mutation in the Decorin Gene

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Cecilie Bredrup; Per M. Knappskog; Jacek Majewski; Eyvind Rødahl; Helge Boman
TAGS: cornea, genes, mutation, family, eye, microscopes, transmission electron, genetic linkage analysis
Invest. Ophthalmol. Vis. Sci.. 2005; 46(2):420-426. doi: https://doi.org/10.1167/iovs.04-0804

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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