Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Abigail T Fahim"'
Autor:
Van Phuc Nguyen, Athanasios J. Karoukis, Justin Hu, Zhuying Wei, Dongshan Yang, Abigail T. Fahim, Xueding Wang, Yannis M. Paulus
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-18 (2024)
Abstract Retinal pigment epithelial (RPE) cells play a crucial role in the health of the retina, and their dysfunction is associated with various ocular diseases. The transplantation of RPE cells has been proposed as a potential treatment for numerou
Externí odkaz:
https://doaj.org/article/47176f8b6dbb4c4fbd58462d54da1ae8
Autor:
Abigail T Fahim, Sara J Bowne, Lori S Sullivan, Kaylie D Webb, Jessica T Williams, Dianna K Wheaton, David G Birch, Stephen P Daiger
Publikováno v:
PLoS ONE, Vol 6, Iss 8, p e23021 (2011)
Mutations in RPGR account for over 70% of X-linked retinitis pigmentosa (XlRP), characterized by retinal degeneration and eventual blindness. The clinical consequences of RPGR mutations are highly varied, even among individuals with the same mutation
Externí odkaz:
https://doaj.org/article/1897dc779fbe4fb8a7ad8d493abb4ff5
Autor:
Maide Ö. Raeker, Nirosha D. Perera, Athanasios J. Karoukis, Lisheng Chen, Kecia L. Feathers, Robin R. Ali, Debra A. Thompson, Abigail T. Fahim
Publikováno v:
Cells, Vol 13, Iss 12, p 1068 (2024)
Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in CHM, encoding Rab escort protein 1 (REP-1), leading to under-prenylation of Rab GTPases (Rabs). Despite ubiquitous expression of CHM, the phenotype is limited to degeneration
Externí odkaz:
https://doaj.org/article/46723e856b1640f98e5d3ac2dd01bda5
Autor:
Lisheng Chen, N. Dayanthi Perera, Athanasios J. Karoukis, Kecia L. Feathers, Robin R. Ali, Debra A. Thompson, Abigail T. Fahim
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract The retinal pigment epithelium (RPE) is a polarized monolayer that secretes growth factors and cytokines towards the retina apically and the choroid basolaterally. Numerous RPE secreted proteins have been linked to the pathogenesis of age-re
Externí odkaz:
https://doaj.org/article/6ff88f32799141fea6e94fdb2912f7c1
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 28, Iss , Pp 101718- (2022)
Purpose: To describe the clinical characteristics, imaging findings and genetic testing results of a young simplex male with choroideremia. Observations: A 6-year-old Hispanic-Chinese male was referred to the retina clinic for peripheral retinal pigm
Externí odkaz:
https://doaj.org/article/38286e6b50d2404a841142a45c340fe8
Autor:
Jacque L. Duncan, Peiyao Cheng, Maureen G. Maguire, Allison A. Ayala, David G. Birch, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Carel B. Hoyng, Hiroshi Ishikawa, Michel Michaelides, Mark E. Pennesi, José-Alain Sahel, Katarina Stingl, Christina Y. Weng
Publikováno v:
American Journal of Ophthalmology, 250, pp. 103-110
American Journal of Ophthalmology, 250, 103-110
American Journal of Ophthalmology, 250, 103-110
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4232da9df43f391a08bdd13e5d68bf7
https://doi.org/10.1016/j.ajo.2023.02.002
https://doi.org/10.1016/j.ajo.2023.02.002
Autor:
Eleonora M. Lad, Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Allison R. Ayala, Isabelle Audo, David G. Birch, Joseph Carroll, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Jessica Loo, Zengtian Deng, Dibyendu Mukherjee, Elise Heon, Robert B. Hufnagel, Bin Guan, Alessandro Iannaccone, Glenn J. Jaffe, Christine N. Kay, Michel Michaelides, Mark E. Pennesi, Ajoy Vincent, Christina Y. Weng, Sina Farsiu
Publikováno v:
American Journal of Ophthalmology. 244:98-116
To investigate baseline mesopic microperimetry (MP) and spectral domain optical coherence tomography (OCT) in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) study.Natural history study METHODS: Setting: 16 clinical sites in Eu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f14a61ec669464d54f804a6d4239c19d
https://doi.org/10.1016/j.ajo.2022.08.013
https://doi.org/10.1016/j.ajo.2022.08.013
Autor:
Abigail T. Fahim, Bonnielin K. Swenor, Erin P. Santos, Maria Fernanda Abalem, K. Thiran Jayasundera, Hanan Y. Rakine, Joshua R. Ehrlich, Natasha Baig, Rebhi Abuzaitoun, Gabrielle D. Lacy, Chris Andrews, Lilia T. Popova, Gislin Dagnelie, Gina Yu, Paul R. Lichter, Kari H. Branham, David C. Musch, Joan A. Stelmack
Publikováno v:
Am J Ophthalmol
Objective We sought to construct and validate a patient-reported outcome measure for screening and monitoring vision-related anxiety in patients with inherited retinal degenerations. Design Item-response theory and graded response modeling to quantit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96e4580e4ed370679da3129ecfb5e437
https://doi.org/10.1016/j.ajo.2020.12.001
https://doi.org/10.1016/j.ajo.2020.12.001
Autor:
Cynthia X. Qian, K. Thiran Jayasundera, Franco M. Recchia, Cagri G. Besirli, Omar Moinuddin, Emmanuel Chang, Abigail T. Fahim, Kari H. Branham, Sanjana K. Sathrasala
Publikováno v:
Ophthalmology Retina. 5:86-96
Purpose To provide a comprehensive review of the ocular manifestations, outcomes, and genetic findings in patients with Coats-like retinitis pigmentosa (RP). Design Multicenter, retrospective, nonconsecutive case series. Participants Patients with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3458d1c52604eb3d89ba08ca624ff9f4
https://doi.org/10.1016/j.oret.2020.03.026
https://doi.org/10.1016/j.oret.2020.03.026
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:571-577
Inherited retinal degenerations (IRDs) are a genotypically and phenotypically diverse group of conditions. Great strides have been made toward identifying the genetic basis for these conditions over the last 30 years-more than 270 different genes inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::704b6a5ae390e3179d4019f6e758c809
https://doi.org/10.1002/ajmg.c.31835
https://doi.org/10.1002/ajmg.c.31835