Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jennifer A Halder"'
Autor:
Kai Wang, S. Scott Whitmore, Edwin M. Stone, Jennifer A Halder, Robert F. Mullins, Kathleen R. Chirco, Budd A. Tucker, Lawrence A. Potempa
Publikováno v:
The Journal of Pathology. 240:173-183
Age-related macular degeneration (AMD) is a devastating disease characterized by central vision loss in elderly individuals. Previous studies have suggested a link between elevated levels of total C-reactive protein (CRP) in the choroid, CFH genotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae5d20c3e06a09dba5f36a66254f7231
https://doi.org/10.1002/path.4766
https://doi.org/10.1002/path.4766
Autor:
Elliott H. Sohn, Stephen R. Russell, Ian C. Han, Chunhua Jiao, Erin R Burnight, Jennifer A Halder, Budd A. Tucker, Meagan A Luse, Emily E. Kaalberg, Megan J Riker, Edwin M. Stone, Luke A Wiley, Robert F. Mullins
Advances in the discovery of the causes of monogenic retinal disorders, combined with technologies for the delivery of DNA to the retina, offer enormous opportunities for the treatment of previously untreatable blinding diseases. However, for gene au
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b18da94252c69e2aa556e34b6a9fdda3
https://europepmc.org/articles/PMC5909113/
https://europepmc.org/articles/PMC5909113/
Autor:
Kristin R. Anfinson, Edwin M. Stone, Robert F. Mullins, Terry A. Braun, Jennifer A Halder, Luke A Wiley, Arlene V. Drack, Emily E. Kaalberg, Budd A. Tucker, Erin R Burnight, Louisa M. Affatigato
Publikováno v:
Gene Therapy. 21:662-672
Mutations in CEP290 are the most common cause of Leber congenital amaurosis (LCA), a severe inherited retinal degenerative disease for which there is currently no cure. Autosomal recessive CEP290-associated LCA is a good candidate for gene replacemen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8750c3f47a84648ed758a3ffcd2f49e6
https://doi.org/10.1038/gt.2014.39
https://doi.org/10.1038/gt.2014.39
Autor:
Edwin M. Stone, Maren Jensen, Edward S. Cohn, Michael S. Hildebrand, Richard J.H. Smith, Jennifer A Halder, A. Eliot Shearer, William J. Kimberling, Karmen M Trzupek, Richard G. Weleber
Publikováno v:
Genetics in Medicine. 12:512-516
Purpose: Usher syndrome is a major cause of genetic deafness and blindness. The hearing loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in early childhood to the middle teenage years. Its frequency may be unde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7811dce87deff3cdcf721a0250f530b6
https://doi.org/10.1097/gim.0b013e3181e5afb8
https://doi.org/10.1097/gim.0b013e3181e5afb8
Publikováno v:
JAMA ophthalmology. 133(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a249f1fcbebdb8b48cca3fceeaa603
https://pubmed.ncbi.nlm.nih.gov/26022370
https://pubmed.ncbi.nlm.nih.gov/26022370
Autor:
Sharon B. Schwartz, Byron L. Lam, Richard G. Weleber, Samuel G. Jacobson, Jennifer A Halder, Jacqueline B. Goldberg, Elise Héon, Xunda Luo, Louisa M. Affatigato, Artur V. Cideciyan, Edwin M. Stone, Alexander Sumaroka
Publikováno v:
Investigative Opthalmology & Visual Science. 52:9665
To determine the disease expression in autosomal recessive (ar) retinitis pigmentosa (RP) caused by mutations in the MAK (male germ cell-associated kinase) gene.Patients with RP and MAK gene mutations (n = 24; age, 32-77 years at first visit) were st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b84085c733966f2e0d23892bd8bcd522
https://doi.org/10.1167/iovs.11-8527
https://doi.org/10.1167/iovs.11-8527