Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Grace K. Han"'
Autor:
Jean Bennett, Leona W. Serrano, Drew Scoles, Grace K. Han, Kayla E Cunningham, Tomas S. Aleman, Erin C O'Neil, John Chiang
Publikováno v:
Ophthalmic Genetics. 40:267-275
Purpose: To confirm the pathogenic role of a novel mutation in PNPLA6 and detail the phenotype of a patient presenting with choroideremia-like chorioretinal degeneration. Methods: A 40-year-old man with presumed choroideremia underwent a complete oph
Autor:
Nicole M. Fuerst, Jessica I. W. Morgan, Leona W. Serrano, Tomas S. Aleman, Jean Bennett, Albert M. Maguire, Anastasia Traband, Grace K. Han, Daniel C. Chung, Denise J. Pearson, Wei Pan, Gui-Shuang Ying, Emily S. Charlson
Publikováno v:
Ophthalmology. 124:359-373
Purpose To describe in detail the central retinal structure of a large group of patients with choroideremia (CHM). Design A prospective, cross-sectional, descriptive study. Participants Patients (n = 97, age 6–71 years) with CHM and subjects with n
Publikováno v:
Ophthalmology. Retina. 2(2)
Autor:
Xiaowu Gai, Albert M. Maguire, Tomas S. Aleman, Laura Bryant, Grace K. Han, Olga Lozynska, Jessica I. W. Morgan, Jean Bennett
The p.R713Q variant of the semaphorin-4a-encoding gene, SEMA4a, has been reported to cause autosomal dominant retinitis pigmentosa. Here we show three families with retinal degeneration in which unaffected family members are either homozygous or hete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6b0c596d8281fe591c9d5e4fbe5ad21
https://europepmc.org/articles/PMC6108083/
https://europepmc.org/articles/PMC6108083/
Autor:
Jessica I. W. Morgan, Tomas S. Aleman, Leona W. Serrano, Nicole M. Fuerst, Benjamin J. Kim, Albert M. Maguire, Bart P. Leroy, Grace K. Han
Publikováno v:
Ophthalmic genetics. 37(4)
To describe in detail the phenotype of a patient with Bietti crystalline dystrophy (BCD) complicated by choroidal neovascularization (CNV) and the response to intravitreal Bevacizumab (AvastinA 34-year-old woman with BCD and mutations in CYP4V2 (c.80
Autor:
Stefanie L. Davidson, Monte D. Mills, Albert M. Maguire, Lucas Bonafede, Grace K. Han, Brian J. Forbes, Charles W. Nichols, Jessica I. W. Morgan, Paige Kaplan, Gil Binenbaum, Tomas S. Aleman, Bart P. Leroy, Can Ficicioglu, Patrick Verloo, Leona W. Serrano
Cobalamin C (cblC) disease is the most common inborn error of vitamin B12 metabolism with an estimated incidence of ∼1:100,000 live births. Patients with this autosomal recessive disorder show homocysteinemia, homocystinuria, and methylmalonic acid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b39e3d07d9a03804e5e7b9f4e4992060
https://europepmc.org/articles/PMC4682491/
https://europepmc.org/articles/PMC4682491/
Autor:
William M. Maguire, Eva Klinman, Jessica I. W. Morgan, Daniel C. Chung, Jean Bennett, Grace K. Han, Albert M. Maguire
PURPOSE We characterized retinal structure in patients and carriers of choroideremia using adaptive optics and other high resolution modalities. METHODS A total of 57 patients and 18 carriers of choroideremia were imaged using adaptive optics scannin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37664e46fa3cd76122b07cbb910814d0
https://europepmc.org/articles/PMC4193760/
https://europepmc.org/articles/PMC4193760/
Autor:
David H. Brainard, James C. Gee, Min Chen, Jessica I. W. Morgan, Robert F. Cooper, Grace K. Han
Publikováno v:
Biomedical Optics Express. 7:4899
We present a fully automated adaptive optics (AO) retinal image montaging algorithm using classic scale invariant feature transform with random sample consensus for outlier removal. Our approach is capable of using information from multiple AO modali