Accès ouvert
2021
article
OpenAlex
Glenn K. Matsushima, Douglas Yasumura, Nikolaus Trautmann, Matthew M. LaVail et autres
PURPOSE. To determine whether mice that are homozygous for a targeted disruption of the Mer receptor tyrosine kinase gene (merkd) manifest a retinal dystrophy phenotype similar to RCS rats, which carry a mutation in the orthologous gene Mertk. METHODS. Eyes of merkdand …
us
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2014
article
OpenAlex
Virginia Miraldi Utz, Razek Georges Coussa, Meghan J. Marino, Aimee V. Chappelow et autres
PURPOSE: To assess the genotypic diversity in patients with Stargardt disease and to characterise epidemiological and genotypic predictors of phenotype. METHODS: Retrospective, cross-sectional study of 112 patients with Stargardt disease. We evaluated the correlation between age at presentation, best-corrected visual acuity (BCVA), …
us, ca
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2013
article
OpenAlex
Virginia Miraldi Utz, Aimee V. Chappelow, Meghan J. Marino, Craig D. Beight et autres
us
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2012
book-chapter
OpenAlex
Aimee V. Chappelow, Arun D. Singh, Chris S. Bergstrom
2012
article
OpenAlex
Virginia Miraldi Utz, Aimee V. Chappelow, Susan Crowe, Gayle J. T. Pauer et autres
us
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2012
letter
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Aimee V. Chappelow, Kevin Tan, Peter K. Kaiser, Nadia Khalida Waheed
2012
book-chapter
OpenAlex
Aimee V. Chappelow, Elias I. Traboulsi
Abstract Autosomal recessive Stargardt disease and fundus flavimaculatus represent a single clinical entity caused by mutation of the ABCA4 gene and accumulation of defective gene product (A2E) at the level of the RPE. The autosomal dominant STGD3 phenotype results when a mutation …
2011
article
OpenAlex
Aimee V. Chappelow, Kevin Tan, Nadia Khalida Waheed, Peter K. Kaiser
us
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2010
article
OpenAlex
Aimee V. Chappelow, Gregory S. Kosmorsky, Craig D. Lewis, Julian D. Perry
A 58-year-old man with Darier's disease developed endophthalmitis 3 days following left-sided cataract extraction with intraocular lens implantation. Vitreous cultures were positive for Pseudomonas aeruginosa, similar to previously cultured hyperkeratotic plaques on the patient. Despite emergent vitrectomy and aggressive treatment with systemic, …
us
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2010
article
OpenAlex
Aimee V. Chappelow, James Tanner McMahon, Curtiss L. Jones, G S Kosmorsky
Herein we report a 52-year-old man with subacute right-sided proptosis and diffuse intraconal enhancing abnormality on MRI. Orbital biopsy revealed granulomatous inflammation consistent with idiopathic orbital inflammatory syndrome (IOIS), or orbital pseudotumor. However, further examination under polarizing light microscopy also revealed acetate …
us
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2010
book-chapter
OpenAlex
Aimee V. Chappelow, ANDREW P. SCHACHAT
us
(code pays fourni par la source)
2010
book-chapter
OpenAlex
Aimee V. Chappelow, ANDREW P. SCHACHAT