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Intervención (México DF), ISSN 2007-249X, 12/2015, Volume 6, Issue 12, pp. 25 - 38
Resumen: Promovidas como formas de diplomacia específicamente cultural que facilitan el entendimiento entre naciones, las exposiciones internacionales producen... 
Art | Cultural Studies
Journal Article
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 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
European Journal of Human Genetics, ISSN 1018-4813, 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 Article
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 & VISUAL SCIENCE, ISSN 0146-0404, 07/2019, Volume 60, Issue 8, pp. 3084 - 3090
PURPOSE. To report molecular genetic findings in six probands with congenital hereditary endothelial dystrophy (CHED) variably associated with hearing loss... 
MUTATION ANALYSIS | PHENOTYPE | SLC4A11 | congenital hereditary endothelial dystrophy | corneal endothelial-like cells model | IDENTIFICATION | PLURIPOTENT STEM-CELLS | MUTANTS | GENE | DYSTROPHY | OPHTHALMOLOGY | induced pluripotent stem cells | GENERATION
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
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
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
Journal Article
Journal Article
Journal Article
Journal Article
Journal Article