Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Rafael C. Caruso"'
Autor:
Radha Ayyagari, Moreno Menghini, Shiri Soudry, Rafael C. Caruso, Mili Navani, Pauline Lee, Reema Syed, Brett G. Jeffrey, Jacque L. Duncan, Austin Roorda, G. Bhanuprakash Reddy, Pooja Biswas, Igor Kozak, John R. Heckenlively
Publikováno v:
Ophthalmic genetics, vol 37, iss 1
BackgroundCharacterization of retinal degeneration (RD) using high-resolution retinal imaging and exome sequencing may identify phenotypic features that correspond with specific genetic defects.Materials and methodsSix members from a non-consanguineo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7da5ec90d711cce463556345095ec887
https://escholarship.org/uc/item/1bg329v3
https://escholarship.org/uc/item/1bg329v3
Autor:
Ian M. MacDonald, Adda Villanueva, Harini V. Gudiseva, Mark Greve, Rafael C. Caruso, Radha Ayyagari
Publikováno v:
Ophthalmic Genetics. 33:123-129
To describe the phenotype and genotype of patients with autosomal recessive bestrophinopathy.The phenotype of the subjects was described after a complete ophthalmological examination, and in various cases, ancillary testing of the visual field, optic
Autor:
Yuqian C. Zheng, Jennifer J. Johnston, Jack A. Yanovski, Emma Spaulding, Joan C. Han, Brian P. Brooks, Penelope Feuillan, Rafael C. Caruso, Julie C. Sapp, David Ng, Leslie G. Biesecker, Katie Wetsch
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 96:E528-E535
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder of the primary cilium associated with obesity. In BBS mouse models, ciliary dysfunction leads to impaired leptin signaling and hyperleptinemia before obesity onset. To study the path
Autor:
Charles K. Heller, Chi-Chao Chan, Gabor G. Illei, Denise Cunningham, Xiaoyan Ding, Rafael C. Caruso, Rachel Bishop, Steven Z. Pavletic
Publikováno v:
Retina. 30:1272-1277
Purpose The purpose of this study was to report the clinical and pathologic findings of three cases of rapid vision loss associated with fludarabine toxicity. Methods A retrospective, single-center case series was conducted. Autopsies of the eyes fro
Autor:
Andrea L. Gropman, Deloris E. Koziol, Ning Miao, Eva H. Baker, Rafael C. Caruso, Robert Wesley, Zenaide M.N. Quezado, Sondra W. Levin, Anil B. Mukherjee, Zhongjian Zhang
Publikováno v:
Anesthesia & Analgesia. 109:372-378
Neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases characterized by lysosomal accumulation of autofluorescent material in neurons and other cell types. The infantile NCL (INCL) subtype is rare (1 in100
Autor:
M.R. Meltzer, N. Smaoui, Mary Alice Crawford, Benjamin I. Rubin, Ekaterini Tsilou, Chi-Chao Chan, Rafael C. Caruso, O’Neil M. Biscette
Publikováno v:
RETINAL Cases & Brief Reports. 1:232-235
PURPOSE To report variations in the inheritance pattern and clinical presentation of crystalline retinopathies. METHODS Two different families with crystalline retinopathy were studied with a complete family history and ophthalmologic examination inc
To define the normal ranges for the slow oscillations (SO) and fast oscillations (FO) of the electro-oculogram (EOG) recorded to International Society for Clinical Electrophysiology of Vision (ISCEV) standards. The effects of age and gender on the EO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::304e215c29840fa0924141f985b77374
https://europepmc.org/articles/PMC4749427/
https://europepmc.org/articles/PMC4749427/
Autor:
George W. Reed, Joan Z. Balog, Ekaterini Tsilou, William A. Gahl, Fumino Iwata, Muriel I. Kaiser-Kupfer, Rafael C. Caruso, Benjamin I. Rubin
Publikováno v:
Ophthalmology. 113:1002-1009
Purpose Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the intracellular accumulation of cystine. Treatment involves intracellular cystine depletion with oral cysteamine. A wide spectrum of ocular pathologic feat
Autor:
Emily Y. Chew, Rafael C. Caruso, Michael Cusick, John Paul SanGiovanni, Katherine Hall-Shimel, Frederick L. Ferris, Karl G. Csaky, George F. Reed
Publikováno v:
American Journal of Ophthalmology. 139:1042-1050
To investigate relationships between clinical measures of central visual function and NEI-VFQ-25 Near and Distance Activities subscales in patients with diabetic retinopathy.Clinic-based, cross-sectional, observational study.The NEI-VFQ-25 was admini
Autor:
Robert B. Nussenblatt, H. Nida Sen, Ronald Buggage, Chi-Chao Chan, Robert N. Fariss, Rafael C. Caruso
Publikováno v:
Ophthalmology. 111:535-539
Objective To report the clinical, electrophysiologic, and immunopathologic findings in a patient with progressive retinal degeneration associated with Waldenstrom's macroglobulinemia. Design Case report with immunohistochemical studies. Methods A 46-