Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Meghan J DeBenedictis"'
Publikováno v:
Ophthalmic Genetics. :1-4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b5339ed298e1243ff896162630b6139
https://doi.org/10.1080/13816810.2023.2183224
https://doi.org/10.1080/13816810.2023.2183224
Autor:
Jane Hu, Gayle J. Pauer, Stephanie A. Hagstrom, Dean Bok, Meghan J. DeBenedictis, Vera L. Bonilha, Joe G. Hollyfield, Roxana A. Radu
Publikováno v:
Redox Biology, Vol 37, Iss , Pp 101787- (2020)
Stargardt macular degeneration (STGD) is a central blinding disease caused by loss of or dysfunctional ABCA4 transporter in both photoreceptors and retinal pigment epithelial (RPE) cells. Toxic bisretinoid-lipofuscin buildup in the RPE cells is a pat
Externí odkaz:
https://doaj.org/article/b7d94d1bd38d413b8716902557463c7b
Autor:
Vera L. Bonilha, Brent A. Bell, Meghan J. DeBenedictis, Stephanie A. Hagstrom, Gerald A. Fishman, Joe G. Hollyfield
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Best disease (BD), also known as vitelliform macular dystrophy, is an inherited disease of the central retina caused by more than 300 pathogenic variants in the BEST1 gene. The phenotype of BD is variable, and there are just a few reports on the hist
Externí odkaz:
https://doaj.org/article/3da2940cb4414b92b181f87a6e97e180
Publikováno v:
Retina. 42:2176-2183
To describe the response to long-term topical dorzolamide treatment in patients with juvenile X-linked retinoschisis and cystic-like foveal lesions.This was a retrospective interventional case series that included 18 eyes of 10 patients with genetica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e385abc44e0cb242bf8f78b24e39382
https://doi.org/10.1097/iae.0000000000003588
https://doi.org/10.1097/iae.0000000000003588
Publikováno v:
Ocular Oncology and Pathology. 7:340-345
Uveal melanoma (UM) and renal cell carcinoma (RCC) can occur sporadically and as a manifestation of BAP1 tumor predisposition syndrome. We aimed to understand the prevalence of germ line BAP1 pathogenic variants in patients with UM and RCC. We review
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79c59423e2759fd29aa70b576a87b8de
https://doi.org/10.1159/000516695
https://doi.org/10.1159/000516695
Autor:
Hansell Soto, Meghan J DeBenedictis, Arun D. Singh, Jacquelyn M. Davanzo, Randy C. Bowen, Vishal Raval
Publikováno v:
Indian Journal of Ophthalmology, Vol 69, Iss 5, Pp 1230-1233 (2021)
Indian Journal of Ophthalmology
Indian Journal of Ophthalmology
Purpose: To describe methods of risk assessment in twins with retinoblastoma (RB). Methods: A case series of four RB probands with a twin sibling. Family status, clinical presentation, and RB1 germline status-based risk assessment were analyzed. Resu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c477c7425c252e36c601c243500972a1
http://www.ijo.in/article.asp?issn=0301-4738
http://www.ijo.in/article.asp?issn=0301-4738
Autor:
Aaron J. Fleischman, Barry D. Kuban, Arup Roy, Alex Yuan, Kenneth Earl Sakaie, Meghan J DeBenedictis, Aleksandra Rachitskaya, Mark J. Lowe
Publikováno v:
Magnetic Resonance Imaging. 72:14-18
Objective To determine if the Argus II retinal prosthesis can operate during functional MRI (fMRI) and diffusion tensor imaging (DTI) acquisitions and if currents induced in the prosthesis by imaging are at safe levels. Materials and methods One Argu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c733fefa857cb8e269bad180544aedb8
https://doi.org/10.1016/j.mri.2020.06.013
https://doi.org/10.1016/j.mri.2020.06.013
Publikováno v:
Ophthalmic Genetics. 41:533-538
Clinical assessment of patients with IRD often includes thorough documentation of medical and ocular history in addition to genetics related practices like assessing the family history and genetic testing. Previous studies have demonstrated the genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1686546c37e830dcdfc7fcabe2be7445
https://doi.org/10.1080/13816810.2020.1804943
https://doi.org/10.1080/13816810.2020.1804943
Autor:
Lynn Schoenfield, Silvia Casadei, Meghan J DeBenedictis, Mohamed H. Abdel-Rahman, Ben Kelly, Peter White, Frederick H. Davidorf, Andrew W. Stacey, Daniel D. Kinnamon, Mary Claire King, David M Gordon, Arun D. Singh, James B. Massengill, T. Walsh, Nicholas K. Hayward, Getachew Boru, Klarke M. Sample, James Scarth, Timothy W. Grosel, Ellie Fewings, Colleen M. Cebulla, Peter Johansson, Marc Tischkowitz, Robert Pilarski
Publikováno v:
Ophthalmology
To identify susceptibility genes associated with hereditary predisposition to uveal melanoma (UM) in patients with no detectable germline BAP1 alterations.Retrospective case series from academic referral centers.Cohort of 154 UM patients with high ri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5c06225736a8c0b262c47402da19f74
https://doi.org/10.1016/j.ophtha.2019.11.009
https://doi.org/10.1016/j.ophtha.2019.11.009
Autor:
Jonathan E. Sears, Yue Zhao, Allison Babiuch, Razek Georges Coussa, Meghan J DeBenedictis, Elias I. Traboulsi
Publikováno v:
Ophthalmic Genetics. 41:63-68
Purpose: Neonatal retinal folds and/or vitreoretinal traction can be signs of isolated ocular or syndromic disorders. Etiologies include retinopathy of prematurity, perinatal infections or inherited vitreoretinal disorders such as familial exudative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06c376300f2cde52317da46a0abea2b0
https://doi.org/10.1080/13816810.2020.1723118
https://doi.org/10.1080/13816810.2020.1723118