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1. Full Text Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome
by Jang, Mi-Ae and Jang, Shin Yi and Kim, Eun Kyoung and Kim, Duk-Kyung and Kim, Ok-Hwa and Kim, Byoung Joon and Kim, Woo-Jong and Kim, Cheol-Hee and Kim, Jong-Won and Now, Hesung and Nguyen, Nhung T.H and Yoo, Joo-Yeon and Lee, Jinhyuk and Lee, Joo-Heung and Lee, Yong Seok and Lee, Myung-Shik and Jeong, Yun-Mi and Sohn, Seongsoo and Nam, Seong-Hyeuk and Hong, Yoojin and Chang, Sung-A and Lim, So Young and Sung, Ki-Sun and Park, Ki-Tae and Kee, Changwon and Ki, Chang-Seok
The American Journal of Human Genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 266 - 274
Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities,... 
OPEN-ANGLE GLAUCOMA | ACTIVATION | RNA | GENE | GENETICS & HEREDITY | CALCIFICATION | SENSOR | SPECTRUM | IDENTIFICATION | GAIN | MDA5 | Odontodysplasia - pathology | Humans | Vascular Calcification - genetics | Child, Preschool | Molecular Sequence Data | Male | Metacarpus - abnormalities | Mutation, Missense - genetics | Base Sequence | Adult | Female | Osteoporosis - genetics | Odontodysplasia - diagnostic imaging | DEAD-box RNA Helicases - chemistry | Aortic Diseases - pathology | DEAD Box Protein 58 | Musculoskeletal Abnormalities - diagnostic imaging | Cells, Cultured | Models, Molecular | Muscular Diseases - pathology | Vascular Calcification - pathology | Sequence Analysis, DNA | Radiography | DEAD-box RNA Helicases - genetics | Aortic Diseases - genetics | Exome - genetics | Osteoporosis - pathology | Pedigree | Musculoskeletal Abnormalities - genetics | Metacarpus - pathology | Polymorphism, Single Nucleotide - genetics | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - pathology | Glaucoma - genetics | Dental Enamel Hypoplasia - genetics | Genes, Dominant - genetics | Physiological aspects | Genetic research | Genetic disorders | Research | Gene mutations | Glaucoma | Psoriasis | RNA-protein interactions | ABC transporters | Mutation | Gene expression | Index Medicus | Report
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2. Full Text Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma
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
Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or... 
CENTRAL CORNEAL THICKNESS | TRIAL | COMMON VARIANTS | POPULATION | OPEN-ANGLE GLAUCOMA | METAANALYSIS | REDUCTION | GENETICS & HEREDITY | RISK | ASSOCIATION | EXPRESSION | Meta-Analysis as Topic | Glaucoma, Open-Angle - genetics | Humans | Middle Aged | Genetic Loci - genetics | Male | Young Adult | Chromosomes, Human, Pair 9 - genetics | Intraocular Pressure - genetics | ABO Blood-Group System - genetics | Aged, 80 and over | Adult | Female | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Risk Factors | Genotype | Chromosomes, Human, Pair 11 - genetics | Aged | Fibronectins - genetics | Polymorphism, Single Nucleotide | Glaucoma - genetics | Chromosomes, Human, Pair 3 - genetics | ATP Binding Cassette Transporter 1 - genetics | Cohort Studies | Glaucoma | Quantitative trait loci | Genome-wide association studies | Genetic aspects | Health aspects | Identification and classification | Risk factors | Intraocular pressure | Studies | Genomes | Genealogy | Chromosomes | Meta-analysis | Index Medicus
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3. Full Text Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle Glaucoma
by Kuchtey, John and Olson, Lana M and Rinkoski, Tommy and MacKay, Edward O and Iverson, T.M and Gelatt, Kirk N and Haines, Jonathan L and Kuchtey, Rachel W
PLoS Genetics, ISSN 1553-7390, 02/2011, Volume 7, Issue 2, pp. e1001306 - e1001306
Primary open angle glaucoma (POAG) is a leading cause of blindness worldwide, with elevated intraocular pressure as an important risk factor. Increased... 
AQUEOUS-HUMOR OUTFLOW | PROTEIN | TRABECULAR MESHWORK | DOGS | GENETICS & HEREDITY | RESISTANCE | EXTRACELLULAR-MATRIX | SELECTION | VON-WILLEBRAND-FACTOR | WEILL-MARCHESANI-SYNDROME | INHERITED GLAUCOMA | Chromosomes, Mammalian - genetics | Glaucoma, Open-Angle - genetics | Humans | Genetic Loci - genetics | Genome - genetics | Molecular Sequence Data | Male | Haplotypes - genetics | Intraocular Pressure - genetics | Base Sequence | Female | Disease Models, Animal | Genetic Linkage | Trabecular Meshwork - pathology | Amino Acid Sequence | Genetic Association Studies | ADAM Proteins - chemistry | Glaucoma, Open-Angle - physiopathology | Models, Molecular | Chromosome Mapping | Mutation - genetics | Glaucoma, Open-Angle - enzymology | Animals | Pedigree | Trabecular Meshwork - metabolism | Dogs | Polymorphism, Single Nucleotide - genetics | ADAM Proteins - genetics | Quantitative Trait Loci - genetics | Quantitative trait loci | Chromosome mapping | Open-angle glaucoma | Analysis | Genetic aspects | Models | Research | Risk factors | Index Medicus | Glaucoma | Proteins | Ophthalmology | Genes
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4. Full Text Genetic analysis of 'PAX6-negative' individuals with aniridia or Gillespie Syndrome
by Ansari, Morad and Rainger, Jacqueline and Hanson, Isabel M and Williamson, Kathleen A and Sharkey, Freddie and Harewood, Louise and Sandilands, Angela and Clayton-Smith, Jill and Dollfus, Helene and Bitoun, Pierre and Meire, Francoise and Fantes, Judy and Franco, Brunella and Lorenz, Birgit and Taylor, David S and Stewart, Fiona and Willoughby, Colin E and McEntagart, Meriel and Khaw, Peng Tee and Clericuzio, Carol and Van Maldergem, Lionel and Williams, Denise and Newbury-Ecob, Ruth and Traboulsi, Elias I and Silva, Eduardo D and Madlom, Mukhlis M and Goudie, David R and Fleck, Brian W and Wieczorek, Dagmar and Kohlhase, Juergen and McTrusty, Alice D and Gardiner, Carol and Yale, Christopher and Moore, Anthony T and Russell-Eggitt, Isabelle and Islam, Lily and Lees, Melissa and Beales, Philip L and Tuft, Stephen J and Solano, Juan B and Splitt, Miranda and Hertz, Jens Michael and Prescott, Trine E and Shears, Deborah J and Nischal, Ken K and Doco-Fenzy, Martine and Prieur, Fabienne and Temple, I. Karen and Lachlan, Katherine L and Damante, Giuseppe and Morrison, Danny A and Van Heyningen, Veronica and Fitzpatrick, David R
PLoS ONE, ISSN 1932-6203, 04/2016, Volume 11, Issue 4, pp. e0153757 - e0153757
We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6... 
AXENFELD-RIEGER SYNDROME | MENTAL-RETARDATION | CEREBELLAR-ATAXIA | LINEAR SKIN DEFECTS | PITX2 MUTATIONS | MULTIDISCIPLINARY SCIENCES | IMPAIRED ACCOMMODATION | PHENOTYPE | PAX6 GENE | GTPASE-ACTIVATING PROTEIN | MISSENSE MUTATIONS | Chromosomes, Human, X - genetics | Histone Deacetylases - genetics | Humans | Male | Chromosomes, Human, Pair 11 - genetics | Comparative Genomic Hybridization - methods | Transcription Factors - genetics | Forkhead Transcription Factors - genetics | Mutation - genetics | Genetic Testing - methods | Homeodomain Proteins - genetics | PAX6 Transcription Factor - genetics | Intellectual Disability - genetics | Aniridia - genetics | Cerebellar Ataxia - genetics | Female | GTPase-Activating Proteins - genetics | Genetic aspects | Aniridia | Research | Hypoplasia | Translocation | Genes | Childrens health | Causation | Hybridization | Gene expression | Children & youth | Medicine | Pax6 protein | Proteins | Missense mutation | Hospitals | Genetic analysis | Chromosome 11 | Ataxia | Genetics | Mutation | Diagnosis | Deserts | Gene mapping | Index Medicus
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5. Full Text Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
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
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6. Full Text Caspase-8 promotes NLRP1/NLRP3 inflammasome activation and IL-1β production in acute glaucoma
by Wei Chi and Fei Li and Hongrui Chen and Yandong Wang and Yingting Zhu and Xuejiao Yang and Jie Zhu and Frances Wu and Hong Ouyang and Jian Ge and Robert N. Weinre and Kang Zhang and Yehong Zhuo
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2014, Volume 111, Issue 30, pp. 11181 - 11186
Acute glaucoma is a sight-threatening condition characterized by a sudden and substantial rise in intraocular pressure (IOP) and consequent retinal ganglion... 
Glaucoma | Reperfusion | Messenger RNA | Ischemia | Toll like receptors | Central nervous system | Retina | Brain damage | Intraocular pressure | Microglia | Retinal ischemia/reperfusion injury | Cell apoptosis | BRAIN-INJURY | MICROGLIA ACTIVATION | INTERLEUKIN-1-BETA | MULTIDISCIPLINARY SCIENCES | REPERFUSION INJURY | POPULATIONS | retinal ischemia/reperfusion injury | ANGLE-CLOSURE GLAUCOMA | cell apoptosis | TOLL-LIKE RECEPTORS | CENTRAL-NERVOUS-SYSTEM | MICE | CEREBRAL-ISCHEMIA | Inflammasomes - metabolism | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Caspase 8 - metabolism | Caspase 1 - metabolism | Interleukin-1beta - genetics | Caspase 8 - genetics | Interleukin-1beta - metabolism | Apoptosis Regulatory Proteins - genetics | Eye Proteins - genetics | Glaucoma - metabolism | Disease Models, Animal | Acute Disease | Rats | Toll-Like Receptor 4 - genetics | Receptors, Cytoplasmic and Nuclear - genetics | Nerve Tissue Proteins - genetics | Rats, Sprague-Dawley | Toll-Like Receptor 4 - metabolism | Inflammasomes - genetics | Apoptosis Regulatory Proteins - metabolism | Mice, Knockout | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Eye Proteins - metabolism | Caspase 1 - genetics | Adaptor Proteins, Signal Transducing - genetics | Mice | Adaptor Proteins, Signal Transducing - metabolism | Enzyme Activation - genetics | Glaucoma - genetics | Receptors, Cytoplasmic and Nuclear - metabolism | Index Medicus | Biological Sciences | reperfusion injury | retinal ischemia
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7. Full Text Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria
by Fares-Taie, Lucas and Gerber, Sylvie and Tawara, Akihiko and Ramirez-Miranda, Arturo and Douet, Jean-Yves and Verdin, Hannah and Guilloux, Antoine and Zenteno, Juan C and Kondo, Hiroyuki and Moisset, Hugo and Passet, Bruno and Yamamoto, Ken and Iwai, Masaru and Tanaka, Toshihiro and Nakamura, Yusuke and Kimura, Wataru and Bole-Feysot, Christine and Vilotte, Jean-Luc and Vilotte, Marthe and Odent, Sylvie and Munnich, Arnold and Regnier, Alain and Chassaing, Nicolas and De Baere, Elfride and Raymond-Letron, Isabelle and Kaplan, Josseline and Calvas, Patrick and Roche, Olivier and Rozet, Jean-Michel
The American Journal of Human Genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, pp. 631 - 639
Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate owing to absence of dilator pupillae... 
REPLICATION | MECHANISM | PROTEIN-COUPLED RECEPTOR | NONSENSE | GENOMIC DISORDERS | GENETICS & HEREDITY | GENE-EXPRESSION | SHORT-CHAIN DEHYDROGENASE/REDUCTASE | MUTATIONS | REARRANGEMENTS | ALBINO-RAT | Chromosome Deletion | Chromosomes, Human, Pair 13 - genetics | Oligonucleotide Array Sequence Analysis | Humans | Receptors, G-Protein-Coupled | Molecular Sequence Data | Mutation - genetics | Pupil Disorders - pathology | Sequence Analysis, DNA | Pupil Disorders - genetics | Comparative Genomic Hybridization | Pedigree | Base Sequence | Gene Components | Hydro-Lyases - genetics | Genes, Dominant - genetics | Pupil Disorders - congenital | Receptors, Cell Surface - genetics | Causes of | Genetic disorders | Gene mutations | Identification and classification | Glaucoma | Proteins | Genotype & phenotype | Congenital diseases | Genomics | Genetics | Gene expression | Index Medicus | Mutation/genetics | Chromosomes, Human, Pair 13/genetics | Pupil Disorders/congenital | Pupil Disorders/pathology | Pupil Disorders/genetics | Hydro-Lyases/genetics | Life Sciences | Receptors, Cell Surface/genetics | DNA | Sequence Analysis | Genes, Dominant/genetics | Report
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8. Full Text Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness
by Davidson, Alice E and Cheong, Sek-Shir and Hysi, Pirro G and Venturini, Cristina and Plagnol, Vincent and Ruddle, Jonathan B and Ali, Hala and Carnt, Nicole and Gardner, Jessica C and Hassan, Hala and Gade, Else and Kearns, Lisa and Jelsig, Anne Marie and Restori, Marie and Webb, Tom R and Laws, David and Cosgrove, Michael and Hertz, Jens M and Russell-Eggitt, Isabelle and Pilz, Daniela T and Hammond, Christopher J and Tuft, Stephen J and Hardcastle, Alison J
PLoS ONE, ISSN 1932-6203, 08/2014, Volume 9, Issue 8, pp. e104163 - e104163
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a... 
CHROMOSOME | POPULATION | MENTAL-RETARDATION SYNDROME | MULTIDISCIPLINARY SCIENCES | BUPHTHALMOS | LTBP2 | DIFFERENTIATION | HYPOGONADISM | PRIMARY CONGENITAL GLAUCOMA | GENOME-WIDE ASSOCIATION | CUL4B GENE | Corneal Diseases - diagnostic imaging | Megalencephaly - diagnostic imaging | Humans | Middle Aged | Child, Preschool | Intellectual Disability - complications | Male | Intellectual Disability - genetics | Young Adult | Corneal Diseases - genetics | Genes, X-Linked | Ultrasonography | Adult | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Cerebral Palsy - diagnostic imaging | Megalencephaly - genetics | Muscle Hypotonia - complications | Genetic Predisposition to Disease | Eye Diseases, Hereditary - diagnostic imaging | Muscle Hypotonia - genetics | Genetic Association Studies | Intellectual Disability - diagnostic imaging | Mutation - genetics | Glaucoma - congenital | Nerve Tissue Proteins - genetics | Epilepsy - complications | Eye Diseases, Hereditary - genetics | Exome - genetics | Phenotype | Pedigree | Adolescent | Family | Glaucoma - genetics | Cerebral Palsy - genetics | Corneal Pachymetry | Glaucoma | Phenotypes | Cornea | Intellectual disabilities | Health risks | Genomes | Single-nucleotide polymorphism | Epidemiology | Loci | Eye | Proteins | Missense mutation | Etiology | Diagnostic software | Genetics | Diagnostic systems | Mutation | Bioinformatics | Chromosomes | Polymorphism | Index Medicus
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9. Full Text Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
by Lu, Yi and Vitart, Veronique and Burdon, Kathryn P and Khor, Chiea Chuen and Bykhovskaya, Yelena and Mirshahi, Alireza and Hewitt, Alex W and Koehn, Demelza and Hysi, Pirro G and Ramdas, Wishal D and Zeller, Tanja and Vithana, Eranga N and Cornes, Belinda K and Tay, Wan-Ting and Tai, E. Shyong and Cheng, Ching-Yu and Liu, Jianjun and Foo, Jia-Nee and Saw, Seang Mei and Thorleifsson, Gudmar and Stefansson, Kari and Dimasi, David P and Mills, Richard A and Mountain, Jenny and Ang, Wei and Hoehn, René and Verhoeven, Virginie J. M and Grus, Franz and Wolfs, Roger and Castagne, Raphaële and Lackner, Karl J and Springelkamp, Henriët and Yang, Jian and Jonasson, Fridbert and Leung, Dexter Y. L and Chen, Li J and Tham, Clement C. Y and Rudan, Igor and Vatavuk, Zoran and Hayward, Caroline and Gibson, Jane and Cree, Angela J and MacLeod, Alex and Ennis, Sarah and Polasek, Ozren and Campbell, Harry and Wilson, James F and Viswanathan, Ananth C and Fleck, Brian and Li, Xiaohui and Siscovick, David and Taylor, Kent D and Rotter, Jerome I and Yazar, Seyhan and Ulmer, Megan and Li, Jun and Yaspan, Brian L and Ozel, Ayse B and Richards, Julia E and Moroi, Sayoko E and Haines, Jonathan L and Kang, Jae H and Pasquale, Louis R and Allingham, R Rand and Ashley-Koch, Allison and Mitchell, Paul and Wang, Jie Jin and Wright, Alan F and Pennell, Craig and Spector, Timothy D and Young, Terri L and Klaver, Caroline C.W and Martin, Nicholas G and Montgomery, Grant W and Anderson, Michael G and Aung, Tin and Willoughby, Colin E and Wiggs, Janey L and Pang, Chi P and Thorsteinsdottir, Unnur and Lotery, Andrew J and Hammond, Christopher J and Van Duijn, Cornelia M and Hauser, Michael A and Rabinowitz, Yaron S and Pfeiffer, Norbert and MacKey, David A and Craig, Jamie E and MacGregor, Stuart and Wong, Tien Y and NEIGHBOR Consortium
Nature Genetics, ISSN 1061-4036, 02/2013, Volume 45, Issue 2, pp. 155 - 163
Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma. We performed a meta-analysis on >20,000 individuals in... 
COMMON VARIANTS | OPEN-ANGLE GLAUCOMA | COLLAGEN | GENE | BLUE SCLERA | ASIAN POPULATIONS | GENETICS & HEREDITY | OCULAR HYPERTENSION | OSTEOGENESIS IMPERFECTA | MUTATIONS | IDENTIFICATION | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Humans | Asian Continental Ancestry Group - genetics | Genetic Loci - genetics | Forkhead Transcription Factors - genetics | Cornea - anatomy & histology | Microarray Analysis | Keratoconus - genetics | Fibronectins - genetics | Forkhead Box Protein O1 | Glaucoma - genetics | Odds Ratio | Real-Time Polymerase Chain Reaction | Corneal Pachymetry | Glaucoma | Quantitative trait loci | Keratoconus | Collagen | Physiological aspects | Genetic aspects | Research | Identification and classification | Risk factors | Studies | Genealogy | Disease | Genetics | Eye diseases | Genomes | Twins | Meta-analysis | Index Medicus
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