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Clinical & Experimental Ophthalmology, ISSN 1442-6404, 08/2019, Volume 47, Issue 6, pp. 704 - 705
Journal Article
Journal Article
Clinical & Experimental Ophthalmology, ISSN 1442-6404, 08/2015, Volume 43, Issue 6, pp. 578 - 590
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
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 09/2018, Volume 59, Issue 11, pp. 4598 - 4602
PURPOSE. To determine whether mitochondrial DNA haplogroups or rare variants associate with primary open-angle glaucoma in subjects of European descent.... 
Glaucoma | Haplogroup | Mitochondrial DNA (mtDNA) | POPULATION | VARIANTS | glaucoma | haplogroup | mitochondrial DNA (mtDNA) | OPHTHALMOLOGY | RISK | AFRICAN | HEREDITARY OPTIC NEUROPATHY | DYSFUNCTION | ASSOCIATION | HAPLOGROUPS | Index Medicus
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 | Medical diagnosis | Recruitment | Index Medicus | Abridged 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
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