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Cornea, ISSN 0277-3740, 06/2019, Volume 38, Issue 6, pp. 758 - 760
PURPOSE:To report a simultaneous occurrence of 2 rare corneal dystrophies. METHODS:A 30-year-old man with a family history of posterior polymorphous corneal... 
Dimethylallyltranstransferase - genetics | Humans | Corneal Dystrophies, Hereditary - genetics | Adult | Male | Corneal Dystrophies, Hereditary - diagnosis | Mutation | Zinc Finger E-box-Binding Homeobox 1 - genetics | Index Medicus
Journal Article
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2019
Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD). OMIM# of the disease 122000; 609141; 618031. Name of the analysed... 
Journal Article
Journal of Occupational and Environmental Medicine, ISSN 1076-2752, 10/2018, Volume 60, Issue 10, p. 875
Byline: Alice E. Welch, New York City Department of Health and Mental Hygiene, New York, New York.; Kimberly Caramanica Zweig; Tim Liao; Jennifer Yip;... 
Patient outcomes | Adults | Alcohol-related disorders | Health aspects
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 06/2019
ImportanceKeratoconus is an important cause of visual loss in young adults, but little is known about its genetic causes. Understanding the genetic... 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019
To demonstrate the utility of an amplification-free long-read sequencing method to characterize the Fuchs endothelial corneal dystrophy (FECD)-associated... 
somatic mosaicism | amplification-free sequencing | Fuchs endothelial corneal dystrophy | triplet repeat-mediated disease | no-amp targeted sequencing
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2015, Volume 56, Issue 13, pp. 7784 - 7793
PURPOSE. Biallelic mutations in AIPL1 cause Leber congenital amaurosis (LCA), a devastating retinal degeneration characterized by the loss or severe impairment... 
Minigene | Molecular chaperone | Splice mutations | molecular chaperone | NUB1 | MESSENGER-RNA | GENE | minigene | SEQUENCE | OPHTHALMOLOGY | INTEGRATIVE GENOMICS VIEWER | RETINA | MUTATIONS | splice mutations | PREDICTION
Journal Article
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, p. 1338
Anterior segment dysgeneses (ASDs) comprise a spectrum of developmental disorders affecting the anterior segment of the eye. Here, we describe three unrelated... 
Child development deviations | Causes of | Genetic aspects | Gene mutations | Health aspects | Developmental disabilities
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2011, Volume 89, Issue 6, pp. 782 - 791
Flecked-retina syndromes, including fundus flavimaculatus, fundus albipunctatus, and benign fleck retina, comprise a group of disorders with widespread or... 
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 12/2011, Volume 89, Issue 6, pp. 782 - 791
Flecked-retina syndromes, including fundus flavimaculatus, fundus albipunctatus, and benign fleck retina, comprise a group of disorders with widespread or... 
CELLS | GROUP-X | SPLA | CLONING | ENZYMES | INFLAMMATION | GENETICS & HEREDITY | ATHEROSCLEROSIS | RECOMBINANT EXPRESSION | MICE | BINDING | Usage | Research | Retinal diseases | Retinal pigment epithelium | Chromosome mapping | Gene mutations | Exome sequencing | Causes of | Physiological aspects | Genetic aspects | Phospholipases | Health aspects | Methods
Journal Article
Investigative Opthalmology & Visual Science, ISSN 1552-5783, 07/2019, Volume 60, Issue 8, pp. 3084 - 3090
PurposeTo report molecular genetic findings in six probands with congenital hereditary endothelial dystrophy (CHED) variably associated with hearing loss (also... 
Journal Article
Forest Ecology and Management, ISSN 0378-1127, 10/2007, Volume 251, Issue 1-2, pp. 82 - 93
To assess the potential impacts of land use change on river water users at both the local and regional scale requires models used in unregulated areas to be... 
Forest plantations | Hydrological impacts | Flow duration curves | River system models | river system models | hydrological impacts | YIELD | flow duration curves | CATCHMENT | SALINITY | FORESTRY | forest plantations | VEGETATION | BALANCE
Journal Article