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Journal Article
by Iglesias, Adriana I and Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and Höhn, René and Springelkamp, Henriët and Cuellar-Partida, Gabriel and Gharahkhani, Puya and Bailey, Jessica N. Cooke and Willoughby, Colin E and Li, Xiaohui and Yazar, Seyhan and Nag, Abhishek and Khawaja, Anthony P and Polašek, Ozren and Siscovick, David and Mitchell, Paul and Tham, Yih Chung and Haines, Jonathan L and Kearns, Lisa S and Hayward, Caroline and Shi, Yuan and Van Leeuwen, Elisabeth M and Taylor, Kent D and Wang, Jie Jin and Rochtchina, Elena and Attia, John and Scott, Rodney and Holliday, Elizabeth G and Baird, Paul N and Xie, Jing and Inouye, Michael and Viswanathan, Ananth and Sim, Xueling and Bonnemaijer, Pieter and Rotter, Jerome I and Martin, Nicholas G and Zeller, Tanja and Mills, Richard A and Staffieri, Sandra E and Jonas, Jost B and Schmidtmann, Irene and Boutin, Thibaud and Kang, Jae H and Lucas, Sionne E. M and Wong, Tien Yin and Beutel, Manfred E and Wilson, James F and Allingham, R. Rand and Brilliant, Murray H and Budenz, Donald L and Christen, William G and Fingert, John and Friedman, David S and Gaasterland, Douglas and Gaasterland, Terry and Hauser, Michael A and Kraft, Peter and Lee, Richard K and Lichter, Paul R and Liu, Yutao and Loomis, Stephanie J and Moroi, Sayoko E and Pericak-Vance, Margaret A and Realini, Anthony and Richards, Julia E and Schuman, Joel S and Scott, William K and Singh, Kuldev and Sit, Arthur J and Vollrath, Douglas and Weinreb, Robert N and Wollstein, Gadi and Zack, Donald J and Zhang, Kang and Donnelly, Peter and Barroso, Ines and Blackwell, Jenefer M and Bramon, Elvira and Brown, Matthew A and Casas, Juan P and Corvin, Aiden and Deloukas, Panos and Duncanson, Audrey and Jankowski, Janusz and Markus, Hugh S and Mathew, Christopher G and Palmer, Colin N. A and Plomin, Robert and Rautanen, Anna and Sawcer, Stephen J and Trembath, Richard C and Wood, Nicholas W and Spencer, Chris C. A and Band, Gavin and Bellenguez, Céline and Freeman, Colin and Hellenthal, Garrett and Giannoulatou, Eleni and Pirinen, Matti and ... and Blue Mountains Eye Study-GWAS Grp and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consor and Blue Mountains Eye Study—GWAS group and Wellcome Trust Case Control Consortium 2 (WTCCC2)
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 11
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide... 
DECORIN | CHROMATIN STATES | POLYMORPHISMS | RISK-FACTOR | MULTIDISCIPLINARY SCIENCES | MOUSE | GENE-EXPRESSION | MUTATIONS | HERITABILITY | LUMICAN | KERATOCONUS | Glaucoma | Cornea | Genes | Myopia | Association analysis | Genomes | Gene expression | Tissues | Connective tissues | Keratoconus | Collagen | Eye diseases | Extracellular matrix | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 01/2019, Volume 10, Issue 1, pp. 155 - 155
Emmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article.... 
Association analysis | Eye diseases | Data processing | Cornea | Genomes
Journal Article
by Hysi, Pirro G and Cheng, Ching-Yu and Springelkamp, Henriët and Macgregor, Stuart and Bailey, Jessica N. Cooke and Wojciechowski, Robert and Vitart, Veronique and Nag, Abhishek and Hewitt, Alex W and Höhn, René and Venturini, Cristina and Mirshahi, Alireza and Ramdas, Wishal D and Thorleifsson, Gudmar and Vithana, Eranga and Khor, Chiea-Chuen and Stefansson, Arni B and Liao, Jiemin and Haines, Jonathan L and Amin, Najaf and Wang, Ya Xing and Wild, Philipp S and Ozel, Ayse B and Li, Jun Z and Fleck, Brian W and Zeller, Tanja and Staffieri, Sana E and teo, Yik-Ying and Cuellar-Partida, Gabriel and Luo, Xiaoyan and Allingham, R. Rand and Richards, Julia E and Senft, Anea and Karssen, Lennart C and Zheng, Yingfeng and Bellenguez, Céline and Xu, Liang and Iglesias, Aiana I and Wilson, James F and Kang, Jae H and van Leeuwen, Elisabeth M and Jonsson, Vesteinn and Thorsteinsdottir, Unnur and Despriet, Dominiek D. G and Ennis, Sarah and Moroi, Sayoko E and Martin, Nicholas G and Jansonius, Nomdo M and Yazar, Seyhan and Tai, E.-Shyong and Amouyel, Philippe and Kirwan, James and van Koolwijk, Leonieke M. E and Hauser, Michael A and Jonasson, Fridbert and Leo, Paul and Loomis, Stephanie J and Fogarty, Rhys and Rivadeneira, Fernando and Kearns, Lisa and Lackner, Karl J and de Jong, Paulus T. V. M and Simpson, Claire L and Pennell, Craig E and Oostra, Ben A and Uitterlinden, Ané G and Saw, Seang-Mei and Lotery, Anew J and Bailey-Wilson, Joan E and Hofman, Albert and Vingerling, Johannes R and Maubaret, Cécilia and Pfeiffer, Norbert and Wolfs, Roger C. W and Lemij, Hans G and Young, Terri L and Pasquale, Louis R and Delcourt, Cécile and Spector, Timothy D and Klaver, Caroline C. W and Small, Kerrin S and Burdon, Kathryn P and Stefansson, Kari and Wong, Tien-Yin and Viswanathan, Ananth and Mackey, David A and Craig, Jamie E and Wiggs, Janey L and van Duijn, Cornelia M and Hammond, Christopher J and Aung, Tin and NEIGHBORHOOD Consortium and BMES GWAS Grp and Wellcome Trust Case Control Conso and Wellcome Trust Case Control Consortium 2 and BMES GWAS Group
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1126 - 1130
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 6, pp. e21347 - e21347
Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic atrophy where vision impairment results from specific loss of retinal ganglion cells... 
STEREOSCOPIC ANALYSIS | FUSION | HETEROZYGOUS MUTATION | COMPLEX-I | DNA | MULTIDISCIPLINARY SCIENCES | NEUROPATHIES | NERVE HEAD | DYSFUNCTION | DYNAMIN-RELATED PROTEIN | OPA1 MUTATIONS | Humans | Middle Aged | Optic Atrophy, Autosomal Dominant - metabolism | Male | Mitochondrial Proteins - genetics | Adenosine Triphosphate - biosynthesis | Young Adult | Vision, Ocular - physiology | DNA, Mitochondrial - genetics | Mitochondrial Proteins - metabolism | Adult | Female | Child | Optic Atrophy, Autosomal Dominant - physiopathology | Biomarkers - metabolism | Oxidative Phosphorylation | Mitochondria - metabolism | Mitochondria - pathology | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | GTP Phosphohydrolases - metabolism | GTP Phosphohydrolases - genetics | Pedigree | Adolescent | Cell Extracts | Aged | Care and treatment | Genetic aspects | Optic atrophy | Genes | Oxidative stress | Phosphorylation | Impairment | Retina | Genomes | Mitochondrial DNA | Thyroid gland | Acuity | Proteins | Atrophy | Mitochondria | Ischemia | Compensation | Fibroblasts | Fusion protein | Ganglion cells | Deoxyribonucleic acid--DNA | Siblings | Optic nerve | Cloning | Phenotypic variations | Visual acuity | Patients | Studies | Genetic variance | Retinal ganglion cells | Oxidative phosphorylation | Biopsy | Vision | Cell lines | Photographs | Mutation | Enzymology | Electron transport | Respiration | ATP | Apoptosis | Index Medicus | Deoxyribonucleic acid
Journal Article
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 2019, Volume 137, Issue 4, pp. 348 - 355
IMPORTANCE Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear.... 
AXENFELD-RIEGER-SYNDROME | MEGALOCORNEA | TRANSCRIPTION FACTOR GENE | OPHTHALMOLOGY | CYP1B1 | MUTATIONS | SPECTRUM | PITX2 | IDENTIFICATION | INFANTILE | LOCUS | Glaucoma | Phenotypes | Copy number | Children | Diagnosis | Ophthalmology | Medical diagnosis | Recruitment | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 11/2017, Volume 25, Issue 11, pp. 1290 - 1290
This corrects the article DOI: 10.1038/ejhg.2017.59. 
BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Glaucoma | Age | Corrigendum
Journal Article
Nature communications, ISSN 2041-1723, 05/2018, Volume 9, Issue 1, p. 1864
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide... 
Lumican - metabolism | Glaucoma, Open-Angle - genetics | Humans | Corneal Diseases - metabolism | Corneal Dystrophies, Hereditary - ethnology | Corneal Diseases - genetics | Ehlers-Danlos Syndrome - genetics | Corneal Dystrophies, Hereditary - pathology | Loeys-Dietz Syndrome - metabolism | Mendelian Randomization Analysis | Fibrillin-1 - metabolism | Cornea - pathology | Keratoconus - pathology | Corneal Diseases - pathology | Decorin - genetics | Gene Expression | Eye Diseases, Hereditary - pathology | Lumican - genetics | ADAMTS Proteins - metabolism | Proteoglycans - metabolism | Ehlers-Danlos Syndrome - ethnology | European Continental Ancestry Group | Myopia - pathology | Cornea - metabolism | Myopia - ethnology | Loeys-Dietz Syndrome - pathology | Corneal Diseases - ethnology | Marfan Syndrome - metabolism | Marfan Syndrome - pathology | Cornea - abnormalities | Quantitative Trait Loci | Proteoglycans - genetics | ADAMTS Proteins - genetics | Transforming Growth Factor beta2 - metabolism | Corneal Dystrophies, Hereditary - genetics | Glaucoma, Open-Angle - pathology | Keratoconus - metabolism | Loeys-Dietz Syndrome - ethnology | Glaucoma, Open-Angle - ethnology | Myopia - metabolism | Ehlers-Danlos Syndrome - pathology | Marfan Syndrome - ethnology | Keratoconus - genetics | Glaucoma, Open-Angle - metabolism | Fibrillin-1 - genetics | Eye Diseases, Hereditary - ethnology | Genome-Wide Association Study | Quantitative Trait, Heritable | Corneal Dystrophies, Hereditary - metabolism | Marfan Syndrome - genetics | Eye Diseases, Hereditary - genetics | Myopia - genetics | Asian Continental Ancestry Group | Keratoconus - ethnology | Ehlers-Danlos Syndrome - metabolism | Loeys-Dietz Syndrome - genetics | Polymorphism, Single Nucleotide | Transforming Growth Factor beta2 - genetics | Genome, Human | Decorin - metabolism | Eye Diseases, Hereditary - metabolism | Cornea | Decorin | Corneal Dystrophies, Hereditary | Myopia | Corneal Diseases | Marfan Syndrome | Keratoconus | ADAMTS Proteins | Lumican | Transforming Growth Factor beta2 | Ehlers-Danlos Syndrome | Glaucoma, Open-Angle | Fibrillin-1 | Eye Diseases, Hereditary | Proteoglycans | Wellcome Trust Case Control Consortium 2 (WTCCC2) | Blue Mountains Eye Study—GWAS group | Loeys-Dietz Syndrome | NEIGHBORHOOD Consortium
Journal Article
Journal Article