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JAMA Ophthalmology, ISSN 2168-6165, 06/2019
Journal Article
Journal Article
Frontiers in Immunology, ISSN 1664-3224, 2019, Volume 10, pp. 488 - 488
A super-enhancer (SE) is a cluster of enhancers with a relatively high density of particular chromatin features. SEs typically regulate key genes that can... 
Risk allele | Multiple sclerosis | Inducible super-enhancer | Vitamin D | Vitamin D receptor | inducible super-enhancer | vitamin D receptor | risk allele | vitamin D | multiple sclerosis
Journal Article
Ophthalmology, ISSN 0161-6420, 08/2019, Volume 126, Issue 8, pp. 1119 - 1130
To investigate which clinical measures influence whether an individual demonstrates earliest glaucomatous structural progression on peripapillary retinal nerve... 
OPHTHALMOLOGY | OPTICAL COHERENCE TOMOGRAPHY | SUBTYPES | PROGRESSION | DAMAGE | Glaucoma | Ophthalmology | Ganglion | Analysis
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 03/2015, Volume 133, Issue 3, p. 359
Journal Article
Molecular Vision, ISSN 1090-0535, 03/2018, Volume 24, pp. 261 - 273
Purpose: Aniridia is a congenital disorder caused by variants in the PAX6 gene. In this study, we assessed the involvement of PAX6 in patients with aniridia... 
EYE | SEVERE VISUAL IMPAIRMENT | CORNEAL THICKNESS | CONGENITAL ANIRIDIA | WAGR SYNDROME | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | OPHTHALMOLOGY | HIGH MYOPIA | MUTATIONAL ANALYSIS | PEDIATRIC GLAUCOMA | CHILDREN | Pax6 protein | Phenotypes | Aniridia | Codons | Genotypes | Visual perception | Acuity | Index Medicus
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 11/2016, Volume 57, Issue 14, pp. 6418 - 6418
Journal Article
Journal Article
Journal Article
Molecular Vision, ISSN 1090-0535, 01/2016, Volume 22, pp. 18 - 30
Purpose: Congenital cataract is a leading cause of childhood blindness. Mutations in the EPHA2 gene are one of the causes of inherited congenital cataract. The... 
MIGRATION | CHILDHOOD BLINDNESS | GENE | PERMEABILITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | OPHTHALMOLOGY | ISOFORM | E-CADHERIN | LENS | EXPRESSION | RECEPTOR TYROSINE KINASE | FAMILY | Index Medicus
Journal Article
Clinical & experimental ophthalmology, ISSN 1442-6404, 06/2019
Fuchs' endothelial corneal dystrophy (FECD) is a progressive and potentially a sight threatening disease, and a common indication for corneal grafting in the... 
Journal Article
by Fritsche, Lars G and Igl, Wilmar and Bailey, Jessica N. Cooke and Grassmann, Felix and Sengupta, Sebanti and Bragg-Gresham, Jennifer L and Burdon, Kathryn and Hebbring, Scott J and Wen, Cindy and Gorski, Mathias and Kim, Ivana K and Cho, David and Zack, Donald and Souied, Eric and Scholl, Henik and Bala, Elisa and ELee, Kristine and Hunter, David J and Sardell, Rebecca J and Mitchell, Paul and Merriam, Joanna E and Cipriani, Francesco and Hoffman, Joshua D and Schick, Tina and Lechanteur, Yara T.E and Guymer, Robyn and Johnson, Matthew and Jiang, Yingda and Stanton, Chloe M and Buitendijk, Gabrielle and Zhan, Xiaowei and Kwong, Alan M and Boleda, Alexis and Brooks, Matthew and Gieser, Linn and Ratna Priya, Rinki and Branham, Kari E and Foerster, Johanna R and Heckenlively, John R and Othman, Mohammad I and Vote, Brendan J and Liang, Helena Hai and Souzeau, Emmanuelle and McAllister, Ian L and Isaacs, Timothy and Hall, Janette and Lake, Stewart and Mackey, David A and Constable, Ian J and Craig, Jamie E and Kitchner, Terrie E and Yang, Zhenglin and Su, Zhiguang and Luo, Hongrong and Chen, Daniel and Ouyang, Hong and Flagg, Ken and Lin, Danni and Mao, Guanping and Ferreyra, Henry and Stark, Klaus and Strachwitz, Claudia and Wolf, Armin and Brandl, Caroline and Rudolph, Guenther and Olden, Matthias and Morrison, Margaux A and Morgan, Denise and Schu, Matthew and Ahn, Jeeyun and Silvestri, Giuliana and ETsironi, Evangelia and Park, Kyu Hyung and Farrer, Lindsay and Orlin, Anton and Brucker, Alexander and Li, Mingyao and Curcio, Christine A and Mohand-Sa'd, Saddek and Sahel, José-Alain and Audo, Isabelle and Benchaboune, Mustapha and Cree, Angela and Rennie, Christina A and Goverdhan, Srinivas V and Grunin, Michelle and Hagbi-Levi, Shira and Campochiaro, Peter and Katsanis, Nicholas and Holz, Frank G and Blond, Frédéric and Blanché, Hél'ne and Deleuze, Jean-Fran'ois and Igo Jr., Robert and Truitt, Barbara and Peachey, Neal S and Meuer, Stacy M and Myers, Chelsea E and Moore, Emily L and Klein, Ronald and ...
Nature Genetics, ISSN 1061-4036, 02/2016, Volume 48, Issue 2, pp. 134 - 143
Journal Article