Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Laryssa A. Huryn"'
Autor:
Laryssa A. Huryn, Wadih M. Zein, Robert B. Hufnagel, Ramiro S. Maldonado, Catherine A Cukras, Tyler Pfister, H. N. Sen
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose Autosomal recessive bestrophinopathy (ARB) and vitelliform macular dystrophy (VMD) are distinct phenotypes, typically inherited through recessive and dominant patterns, respectively. Recessively inherited VMD (arVMD) has been reported, sugges
Publikováno v:
Communications Biology, Vol 1, Iss 1, Pp 1-9 (2018)
Communications Biology
Communications Biology
Visualizing the cellular manifestation of disease has recently been aided by an increasing number of adaptive optics (AO)-based imaging modalities developed for the living human eye. However, simultaneous visualization of multiple, interacting cell t
Publikováno v:
Journal of Visual Impairment & Blindness. 112:683-700
Introduction It is important to understand albinism, since it is a disorder associated with visual impairment, predisposition to malignant melanomas, and social stigma. The main objective of this article is to review the genetics and biologic mechani
Autor:
Bernadette R. Gochuico, Koyamangalath Krishnan, Dong Chen, Nagabhishek Moka, Wendy J. Introne, Sara G. Haroutunian, Ellen Macnamara, Chen G. Han, William A. Gahl, Kevin J. O'Brien, Lea M. Coon, May Christine V. Malicdan, Laryssa A. Huryn, Julie A. Majerus
Publikováno v:
American Journal of Medical Genetics Part A. 176:2819-2823
Heřmanský-Pudlak syndrome (HPS), a rare autosomal recessive disorder, manifests with oculocutaneous albinism and a bleeding diathesis. However, severity of disease can be variable and is typically related to the genetic subtype of HPS; HPS type 6 (
Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy
Autor:
Joanne Li, Amy Turriff, Ehsan Ullah, Jianfei Liu, Laryssa A. Huryn, Daniel X. Hammer, Robert B. Hufnagel, Tao Liu, Mary A. Johnson, Johnny Tam, Oliver J Flynn, Alfredo Dubra, Brian P. Brooks, Zhuolin Liu, Brett G. Jeffrey
Publikováno v:
Frontiers in Aging Neuroscience
Frontiers in Aging Neuroscience, Vol 13 (2021)
Frontiers in Aging Neuroscience, Vol 13 (2021)
Dark cone photoreceptors, defined as those with diminished or absent reflectivity when observed with adaptive optics (AO) ophthalmoscopy, are increasingly reported in retinal disorders. However, their structural and functional impact remain unclear.
Autor:
Laryssa A. Huryn, Ehsan Ullah, Malena Daich Varela, Robert B. Hufnagel, Brian P. Brooks, Sairah Yousaf
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose Genetic variation in PDE6C is associated with achromatopsia and cone dystrophy, with only a few reports of cone-rod dystrophy in the literature. We describe two pediatric and two adult patients with PDE6C related cone and cone-rod dystrophy a
Autor:
Denise Cunningham, Jasmine Y Serpen, Wadih M. Zein, Laryssa A. Huryn, Lev Prasov, Elizabeth C. Murphy, Amy Turriff, Catherine A Cukras, Brian P. Brooks
Publikováno v:
Journal of Ophthalmology
Journal of Ophthalmology, Vol 2020 (2020)
Journal of Ophthalmology, Vol 2020 (2020)
Background/Aims. Optic disc drusen (ODD) are calcified deposits of proteinaceous material in the optic disc, and their burden in ocular conditions is unknown. As ODD can be associated with visual field defects further compromising already degeneratin
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
Autor:
Sarah J. Garnai, Robert B. Hufnagel, Shivani S Kamat, Ehsan Ullah, Brian P. Brooks, Shahzad I. Mian, Grant M. Comer, Bernadete Ayres, Julia E. Richards, Steven M. Archer, Monte A. Del Monte, Laryssa A. Huryn, Sayoko E Moroi, Bin Guan, Christine A Rygiel, Philip Lieu, Jasmine Y Serpen, Hemant Pawar, Laurel Wiinikka-Buesser, Lev Prasov, Cagri G. Besirli, Kayla Johnson, Susan G. Elner
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant high hyperopia. While six genes have been implicated in this hereditary condition (MFRP, PRSS56, MYRF, TMEM98, CRB1,VMD2/BEST1), the relative contribution of
Autor:
Johnny Tam, Tao Liu, Margery G. Smelkinson, Catherine A Cukras, Laryssa A. Huryn, Brian P. Brooks, Aman George, Sarah S. Cohen, Kapil Bharti, Arvydas Maminishkis, Ruchi Sharma, Jianfei Liu, Owen Schwartz, HaeWon Jung, Robert N. Fariss
Publikováno v:
JCI Insight. 4
The heterogeneity of individual cells in a tissue has been well characterized, largely using ex vivo approaches that do not permit longitudinal assessments of the same tissue over long periods of time. We demonstrate a potentially novel application o
Autor:
Hanne Jensen, Christian Kubisch, Eyvind Rødahl, Lisbeth Tranebjærg, Leslie G. Biesecker, Katja Kloth, Thomas N. Darling, Linda Xu, Laryssa A. Huryn, Julie C. Sapp, Elisa Cinotti, Cecilie Bredrup, Jennifer J. Johnston, Ileana M. Cristea, Ove Bruland, Gunnar Houge, Emilio Di Maria
We have investigated a distinct disorder with progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro-osteolysis. In six affected individuals from fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2d2822d0a921995070f31e57ca06c12
http://hdl.handle.net/11567/934637
http://hdl.handle.net/11567/934637