Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Rachel M, Huckfeldt"'
Autor:
Hanmeng Zhang, Laurence Daheron, Rodrigo Cerna-Chavez, Emily M. Place, Rachel M. Huckfeldt, Eric A. Pierce, Marcela Garita-Hernandez
Publikováno v:
Stem Cell Research, Vol 74, Iss , Pp 103280- (2024)
We have successfully derived a novel human induced pluripotent stem cell (hiPSC) line using non-integrative Sendai virus. This hiPSC line was generated from a healthy male adult donor, aged 55, and subjected to thorough characterization and extensive
Externí odkaz:
https://doaj.org/article/4d1f7e50dde5403480fb983c50e4f6b3
Autor:
Jason Comander, Carol Weigel DiFranco, Kit Sanderson, Emily Place, Matthew Maher, Erin Zampaglione, Yan Zhao, Rachel M. Huckfeldt, Kinga M. Bujakowska, Eric Pierce
Publikováno v:
JCI Insight, Vol 8, Iss 15 (2023)
BACKGROUND A randomized clinical trial from 1984 to 1992 indicated that vitamin A supplementation had a beneficial effect on the progression of retinitis pigmentosa (RP), while vitamin E had an adverse effect.METHODS Sequencing of banked DNA samples
Externí odkaz:
https://doaj.org/article/98a5494fd08d47e88557904aa8156ef2
Autor:
Aniz Girach, Isabelle Audo, David G. Birch, Rachel M. Huckfeldt, Byron L. Lam, Bart P. Leroy, Michel Michaelides, Stephen R. Russell, Juliana M.F. Sallum, Katarina Stingl, Stephen H. Tsang, Paul Yang
Publikováno v:
Therapeutic Advances in Ophthalmology, Vol 14 (2022)
Inherited retinal diseases (IRDs) are a genetically and phenotypically heterogeneous group of genetic eye disorders. There are more than 300 disease entities, and together this group of disorders affects millions of people globally and is a frequent
Externí odkaz:
https://doaj.org/article/226aab6d39cd48b586763105aaa823da
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Autor:
Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (I
Externí odkaz:
https://doaj.org/article/e208f44c488745faa67e41d6e10b7aa1
Publikováno v:
Clinical and Experimental Optometry. :1-3
Publikováno v:
Seminars in Ophthalmology. 38:201-206
To review disparities in the field of inherited retinal degenerations to establish foundations for future discussions oriented toward finding possible solutions. A narrative overview of the literature. Despite collective efforts towards democratizati
Autor:
Tomas S. Aleman, Rachel M. Huckfeldt, Leona W. Serrano, Denise J. Pearson, Grace K. Vergilio, Sarah McCague, Kathleen A. Marshall, Manzar Ashtari, Tu M. Doan, Carol A. Weigel-DiFranco, Bethany S. Biron, Xiao-Hong Wen, Daniel C. Chung, Emily Liu, Kevin Ferenchak, Jessica I.W. Morgan, Eric A. Pierce, Dean Eliott, Jean Bennett, Jason Comander, Albert M. Maguire
Publikováno v:
Ophthalmology. 129:1177-1191
Autor:
Joan W. Miller, Mary E. Aronow, Tedi Begaj, John B Miller, Lucy H. Young, Rachel M. Huckfeldt, Jan A. Kylstra, Demetrios G. Vavvas, Deeba Husain, Dean Eliott, David M. Wu, Shizuo Mukai, Leo A. Kim, Evan Chen, Sachi Patil, Lucia Sobrin, Karen M Wai, Ravi Parikh, Evangelos S. Gragoudas, Nimesh A. Patel
Publikováno v:
Seminars in Ophthalmology. 37:902-908
Purpose: To examine the effect of medication sample use (ranibizumab or aflibercept) on future anti-vascular endothelial growth factor (VEGF) agent selection in neovascular age-related macular degeneration (nvAMD). Design: Retrospective cohort study.
Autor:
Andrew J, Catomeris, Brian G, Ballios, Riccardo, Sangermano, Naomi E, Wagner, Jason I, Comander, Eric A, Pierce, Emily M, Place, Kinga M, Bujakowska, Rachel M, Huckfeldt
Publikováno v:
Ophthalmic Genet
BACKGROUND: Variants in RCBTB1 were recently described to cause a retinal dystrophy with only eight families described to date and a predominant phenotype of macular atrophy and peripheral reticular degeneration. Here, we further evaluate the genotyp
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 15, Iss , Pp - (2019)
Purpose: The clinical features of autoimmune retinopathy (AIR) can resemble and be difficult to differentiate from inherited retinal degenerations (IRDs). Misdiagnosis of an IRD as AIR causes unnecessary treatment with immunosuppressive agents. The p
Externí odkaz:
https://doaj.org/article/4c4375c6068b44c9afeb040e62e977b6