Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jeremy M. Hoffmann"'
Autor:
Beau J. Fenner, Jonathan F. Russell, Arlene V. Drack, Alina V. Dumitrescu, Elliott H. Sohn, Stephen R. Russell, H. Culver Boldt, Louisa M. Affatigato, Jeremy M. Hoffmann, Jeaneen L. Andorf, Edwin M. Stone, Ian C. Han
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
IntroductionX-linked retinoschisis (XLRS) is an inherited retinal disease (IRD) caused by pathogenic mutations in the retinoschisin gene, RS1. Affected individuals develop retinal layer separation, leading to loss of visual acuity (VA). Several XLRS
Externí odkaz:
https://doaj.org/article/76e26a92aacb4127a7bd34e7fd209fac
Autor:
H. Culver Boldt, Budd A. Tucker, Karen M. Gehrs, Edwin M. Stone, Louisa M. Affatigato, Elliott H. Sohn, Ian C. Han, Matthew G. Field, Stephen R. Russell, Elaine M. Binkley, James C. Folk, Randy Christopher Bowen, Jeremy M. Hoffmann, Robert F. Mullins
Publikováno v:
Ophthalmol Retina
In this retrospective cohort study, we describe intrafamilial phenotypic variability of retinal hemangioblastoma (RH) in families with von Hippel-Lindau (VHL) disease. Patients with molecularly-confirmed VHL evaluated at our institution were identifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6372bd97cb12a99b38587d170528c788
https://pubmed.ncbi.nlm.nih.gov/34416425
https://pubmed.ncbi.nlm.nih.gov/34416425
Autor:
Elliott H. Sohn, Megan J Riker, Edwin M. Stone, Stewart Thompson, Jeremy M. Hoffmann, Robert F. Mullins, Kai Wang
Publikováno v:
Retina. 35:48-57
Autosomal dominant radial drusen (ADRD), also termed Malattia Leventinese and Doyne honeycomb retinal dystrophy, causes early-onset vision loss because of mutation in EFEMP1. Drusen in an exceedingly rare ADRD human donor eye was compared with eyes a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::386539479f2aa2971b07ff4dd17b1cb0
https://doi.org/10.1097/iae.0000000000000263
https://doi.org/10.1097/iae.0000000000000263
Autor:
Darcey L. Klaahsen, Chunhua Jiao, Edwin M. Stone, Elliott H. Sohn, Manav Gupta, Jeremy M. Hoffmann, Malavika K. Adur, Audrey A. Tran, Robert F. Mullins, Jason W. Ross, Thorsten M. Schlaeger, Luke A Wiley, Erin R Burnight, George Q. Daley, Robinson Triboulet, Kristin R. Anfinson, Jeaneen L. Andorf, Budd A. Tucker
Patient-derived induced pluripotent stem cells (iPSCs) hold great promise for autologous cell replacement. However, for many inherited diseases, treatment will likely require genetic repair pre-transplantation. Genome editing technologies are useful
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c911db405e5dbd85fe14e0b81b8e6863
https://europepmc.org/articles/PMC5589061/
https://europepmc.org/articles/PMC5589061/
Publikováno v:
Psychologische Rundschau. 65:24-27
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d5f78465e8db0181375b1ac7451321c
https://doi.org/10.1026/0033-3042/a000177
https://doi.org/10.1026/0033-3042/a000177
Autor:
Kyungmoo Lee, Michael D. Abràmoff, Edwin M. Stone, Steven F. Stasheff, Douglas B. Critser, Robert F. Mullins, Milan Sonka, Jeremy M. Hoffmann
Purpose Best disease is a macular dystrophy caused by mutations in the BEST1 gene. Affected individuals exhibit a reduced electro-oculographic (EOG) response to changes in light exposure and have significantly longer outer segments (OS) than age-matc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02607aea3b17de7522da6fe36d568a96
https://europepmc.org/articles/PMC3668803/
https://europepmc.org/articles/PMC3668803/
Autor:
Adam P. DeLuca, Edwin M. Stone, Samuel G. Jacobson, Rebecca M. Johnston, Jeremy M. Hoffmann, Val C. Sheffield, Todd E. Scheetz, Budd A. Tucker, Robert F. Mullins
Retinitis pigmentosa (RP) is a genetically heterogeneous heritable disease characterized by apoptotic death of photoreceptor cells. We used exome sequencing to identify a homozygous Alu insertion in exon 9 of male germ cell-associated kinase ( MAK )
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fea08a5f85a35468fd084c664c8bb3f9
https://europepmc.org/articles/PMC3161526/
https://europepmc.org/articles/PMC3161526/