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Human Mutation, ISSN 1059-7794, 2019, Volume 40, Issue 6, pp. 675 - 693
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2637 - 2645
Congenital cataract (CC) is a significant cause of childhood blindness worldwide. CC is a genetically heterogeneous disease because mutations in over 40 genes... 
eye diseases | hereditary | cataract | crystallin | CONVERSION MUTATION | VARIANTS | CRYBB2 | CHINESE FAMILY | IDENTIFICATION | CRYGC | DOMINANT CERULEAN CATARACT | GENETICS & HEREDITY | PEDIATRIC CATARACT | NONSENSE MUTATION | Congenital diseases | Genetic screening | Crystallin | Next-generation sequencing | Blindness | Children | Diagnosis | Mutation | Deoxyribonucleic acid--DNA | EphA2 protein
Journal Article
Molecular Vision, ISSN 1090-0535, 01/2018, Volume 24, pp. 105 - 114
Purpose: To describe the retinal clinical features of a group of Mexican patients with Stargardt disease carrying the uncommon p.Ala1773Val founder mutation in... 
Phenotypes | Medical imaging | Retina | Nyctalopia | Pigmentation | Visual perception | Acuity | Electroretinograms | Atrophy | Phenotyping | Retinal degeneration | Photoreceptors | Mutation | Dystrophy | Age | Genotypes | Index Medicus
Journal Article
Molecular Vision, ISSN 1090-0535, 02/2018, Volume 24, pp. 105 - 114
Purpose: To describe the retinal clinical features of a group of Mexican patients with Stargardt disease carrying the uncommon p.Ala1773Val founder mutation in... 
CONE-ROD DYSTROPHY | STARGARDT MACULAR DYSTROPHY | DEGENERATIONS | FUNDUS FLAVIMACULATUS | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRANSPORTER GENE ABCR | DISEASE | SEQUENCE VARIATIONS | OPHTHALMOLOGY | AUTOSOMAL RECESSIVE CONE | RETINITIS-PIGMENTOSA | PROGRESSION
Journal Article
Journal of Microbiology, ISSN 1225-8873, 02/2019, Volume 57, Issue 2, pp. 143 - 153
Staphylococci have quorum-sensing (QS) systems that enable cell-to-cell communication, as well as the regulation of numerous colonization and virulence... 
clinical | commensal | Staphylococcus epidermidis | Agr | symbiosis | INFECTIONS | GENE REGULATOR AGR | PHENOL-SOLUBLE MODULINS | MICROBIOLOGY | LOCUS | MULTIPLEX PCR ASSAY | VIRULENCE FACTORS | CLONING | PSEUDOMONAS-AERUGINOSA | AUREUS | Chromosomes | Analysis | Virulence (Microbiology) | Index Medicus
Journal Article
Journal Article
Microbial Pathogenesis, ISSN 0882-4010, 02/2017, Volume 103, p. 139
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/j.micpath.2016.12.021 In... 
Genes | Analysis | Genetic research | Genetic aspects
Journal Article
Ophthalmic plastic and reconstructive surgery, ISSN 0740-9303, 03/2018, Volume 34, Issue 2, pp. e61 - e63
Barber-Say syndrome is a rare autosomal dominant disease characterized by dysmorphic features, mainly of the eyelids and skin. It is caused by heterozygous... 
SURGERY | BASIC DOMAIN | OPHTHALMOLOGY | FATHER | ABLEPHARON-MACROSTOMIA SYNDROME | Care and treatment | Chromosome abnormalities | Diagnosis | Index Medicus
Journal Article
by Aung, T and Ozaki, M and Lee, M.C and Schlotzer-Schrehardt, U and Thorleifsson, G and Mizoguchi, T and Igo, R.P., Jr and Haripriya, A and Williams, S.E and Astakhov, Y.S and Orr, A.C and Burdon, K.P and Nakano, S and Mori, K and Abu-Amero, K and Hauser, M and Li, Z and Prakadeeswari, G and Bailey, J.N and Cherecheanu, A.P and Kang, J.H and Nelson, S and Hayashi, K and Manabe, S.I and Kazama, S and Zarnowski, T and Inoue, K and Irkec, M and Coca-Prados, M and Sugiyama, K and Jarvela, I and Schlottmann, P and Lerner, S.F and Lamari, H and Nilgun, Y and Bikbov, M and Park, K.H and Cha, S.C and Yamashiro, K and Zenteno, J.C and Jonas, J.B and Kumar, R.S.S and Perera, S.A and Chan, A.S.Y and Kobakhidze, N and George, R and Vijaya, L and Do, T and Edward, D.P and Juan Marcos, L. de and Pakravan, M and Moghimi, S and Ideta, R and Bach-Holm, D and Kappelgaard, P and Wirostko, B and Thomas, S and Gaston, D and Bedard, K and Greer, W.L and Yang, Z and Chen, X and Huang, L and Sang, J and Jia, H and Jia, L and Qiao, C and Zhang, H and Liu, X and Zhao, B and Wang, Y.X and Xu, L and Leruez, S and Reynier, P and Chichua, G and Tabagari, S and Uebe, S and Zenkel, M and Berner, D and Mossbock, G and Weisschuh, N and Hoja, U and Welge-Luessen, U.C and Mardin, C and Founti, P and Chatzikyriakidou, A and Pappas, T and Anastasopoulos, E and Lambropoulos, A and Ghosh, A and Shetty, R and Porporato, N and Saravanan, V and Venkatesh, R and Shivkumar, C and Kalpana, N and Sarangapani, S and Kanavi, M.R and Beni, A.N and Yazdani, S and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 7, pp. 993 - 1004
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1... 
INDIVIDUALS | RISK LOCI | PSEUDOEXFOLIATION SYNDROME | INFLAMMATORY-BOWEL-DISEASE | METAANALYSIS | POLYMORPHISMS | COMMON SEQUENCE VARIANTS | GENETICS & HEREDITY | GLAUCOMA | BLOOD-PRESSURE | GENOME-WIDE ASSOCIATION | Glaucoma | Haplotypes | Genes | Principal components analysis | Cardiovascular disease | Genomes | Biology | Loci | Exfoliation | Risk factors | Studies | Collaboration | Blindness | Alzheimers disease | Humans | Asian Continental Ancestry Group - genetics | Extracellular Matrix - metabolism | Male | Gene Expression Profiling | Mutation, Missense | Amino Acid Oxidoreductases - genetics | Exfoliation Syndrome - ethnology | RNA, Messenger - biosynthesis | Aged, 80 and over | Female | Spheroids, Cellular | Calcium Channels - genetics | Molecular Chaperones - biosynthesis | Eye - metabolism | Genetic Predisposition to Disease | Genome-Wide Association Study | Amino Acid Oxidoreductases - physiology | Molecular Chaperones - genetics | Cell Adhesion | Point Mutation | Alleles | Exfoliation Syndrome - genetics | Amino Acid Substitution | Exfoliatins | Disease susceptibility | Genetic aspects | Analysis | Index Medicus | Life Sciences | Populations and Evolution | Microbiology and Parasitology | Parasitology | Quantitative Methods | Computer Science | Genetics | Santé publique et épidémiologie | Bioinformatics | Human genetics | Virology
Journal Article
Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 8/2015, Volume 253, Issue 8, pp. 1417 - 1417
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s00417-015-3089-9 
Medicine & Public Health | Ophthalmology | Genetic research
Journal Article
Boletín Médico del Hospital Infantil de México, ISSN 0539-6115, 01/2019, Volume 76, Issue 1
Journal Article
International journal of molecular epidemiology and genetics, ISSN 1948-1756, 2018, Volume 9, Issue 5, pp. 43 - 54
The alternative splicing plays an important role to generate protein diversity. Recent studies have shown alterations in alternative splicing, resulting in... 
Journal Article
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