Zobrazeno 1 - 10
of 15
pro vyhledávání: '"David B. McGUIGAN"'
Autor:
Tomas S. Aleman, Sharon B. Schwartz, Artur V. Cideciyan, Alejandro J. Roman, David B. McGuigan, Samuel G. Jacobson, Judy Palma, Alexander Sumaroka, Michaela L. Gruzensky, Rebecca Sheplock
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose Previously, patients with RHO mutations and a class A phenotype were found to have severe early-onset loss of rod function, whereas patients with a class B phenotype retained rod function at least in certain retinal regions. Here class B pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c2ae646ecc7d968e906aed7bcb530a7
http://europepmc.org/articles/PMC5032913
http://europepmc.org/articles/PMC5032913
Autor:
Alejandro J. Roman, Rebecca Sheplock, Evelyn P. Semenov, Artur V. Cideciyan, David B. McGuigan, Samuel G. Jacobson, Malgorzata Swider
Publikováno v:
Translational Vision Science & Technology
Purpose Blue cone monochromacy (BCM), a congenital X-linked retinal disease caused by mutations in the OPN1LW/OPN1MW gene cluster, is under consideration for intravitreal gene therapy. Difficulties with near vision tasks experienced by these patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af79ef8a546755373704447339c10458
https://doi.org/10.1167/tvst.9.13.13
https://doi.org/10.1167/tvst.9.13.13
Autor:
Rinki Ratnapriya, Samuel G. Jacobson, Alejandro J. Roman, Edwin M. Stone, Monica Lu, Artur V. Cideciyan, Alexander Sumaroka, David B. McGuigan, Elise Héon, Alexandra V. Garafalo, Anand Swaroop, Vaishnavi Batmanabane
Publikováno v:
Genes; Volume 8; Issue 7; Pages: 178
Genes
Genes, Vol 8, Iss 7, p 178 (2017)
Genes
Genes, Vol 8, Iss 7, p 178 (2017)
Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0b2bc9f8e6b8b66c4847ff8ca82d92b
Autor:
Alejandro J. Roman, Jason Charng, Mychajlo S. Kosyk, Malgorzata Swider, Rebecca Sheplock, David B. McGuigan, Artur V. Cideciyan, Samuel G. Jacobson, Elise Héon
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose Pupillary light reflex (PLR) is driven by outer retinal photoreceptors and by melanopsin-expressing intrinsically photosensitive retinal ganglion cells of the inner retina. To isolate the melanopic component, we studied patients with severe v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2a898027b5879153593ef68a5e971f
https://pubmed.ncbi.nlm.nih.gov/28660274
https://pubmed.ncbi.nlm.nih.gov/28660274
Autor:
Rebecca Sheplock, Samuel G. Jacobson, Rodrigo Matsui, David B. McGuigan, Sharon B. Schwartz, Alexander Sumaroka, Artur V. Cideciyan
Publikováno v:
Investigative ophthalmologyvisual science. 57(9)
PURPOSE To study transition zones from normal to abnormal retina in Usher syndrome IB (USH1B) caused by myosin 7A (MYO7A) mutations. METHODS Optical coherence tomography (OCT) scattering layers in outer retina were segmented in patients (n = 16, ages
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2318ef043a533c05cbb7d2951d3035
https://pubmed.ncbi.nlm.nih.gov/27409480
https://pubmed.ncbi.nlm.nih.gov/27409480
Autor:
Michaela L. Gruzensky, Samuel G. Jacobson, Rodrigo Matsui, Tomas S. Aleman, Alexander Sumaroka, David B. McGuigan, Sharon B. Schwartz, Artur V. Cideciyan, Robert K. Koenekoop
Publikováno v:
Ophthalmic genetics. 37(3)
SPATA7 mutations have been associated with different autosomal recessive retinal degeneration phenotypes. Long-term follow-up has not been described in detail.A Hispanic patient with SPATA7 mutations was evaluated serially over a 12-year period with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b70c3f537b28920c341fdbc4504e73a
https://pubmed.ncbi.nlm.nih.gov/26854980
https://pubmed.ncbi.nlm.nih.gov/26854980
Autor:
David B. McGUIGAN, William J. Boylan
Publikováno v:
Naval Engineers Journal. 123:55-72
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d50ab1fec7f5bdd77f33191864392653
https://doi.org/10.1111/j.1559-3584.2011.00318.x
https://doi.org/10.1111/j.1559-3584.2011.00318.x
Autor:
Shiyi Chen, Talal Alabduljalil, Shuning Li, Samuel G. Jacobson, Elise Héon, David B. McGuigan, Artur V. Cideciyan
Publikováno v:
Investigative Opthalmology & Visual Science. 57:OCT377
PURPOSE To define the clinical phenotype of a cohort of patients affected with choroideremia. METHODS A retrospective study of patients with choroideremia included two centers. Data collected included age, visual acuity, refractive error, color visio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::521c796bee69400771868b04693ad42d
https://doi.org/10.1167/iovs.15-18421
https://doi.org/10.1167/iovs.15-18421
Autor:
Michaela L. Gruzensky, Rebecca Sheplock, Rodrigo Matsui, David B. McGuigan, Samuel G. Jacobson, Alejandro J. Roman, Artur V. Cideciyan
Publikováno v:
Investigative Opthalmology & Visual Science. 57:3118
Purpose The purpose of this study was to develop a convenient means to measure rod (and cone) function by automated perimetry in patients with inherited retinal degenerations (IRDs). Methods A currently available automated perimeter was used to deter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22882b5f10eb9afbc40007110e25b2d9
https://doi.org/10.1167/iovs.16-19302
https://doi.org/10.1167/iovs.16-19302
Autor:
David B. McGUIGAN, William J. Boylan
Publikováno v:
Naval Engineers Journal. 98:157-170
Many ship systems introduced into the U.S. Navy are not operationally ready due to inadequate testing. The test process must be properly designed, constructed and operated, and is best controlled by program management techniques. The facilities avail
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e310abd99bb07649e697c7b00f647c68
https://doi.org/10.1111/j.1559-3584.1986.tb03427.x
https://doi.org/10.1111/j.1559-3584.1986.tb03427.x