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The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 3, pp. 550 - 560
Journal Article
Ophthalmology, ISSN 0161-6420, 2012, Volume 119, Issue 9, pp. 1832 - 1843
Purpose To test the hypothesis that a primary disturbance in lysyl oxidase-like 1 (LOXL1) and elastin metabolism in the lamina cribrosa of eyes with... 
Ophthalmology | LYSYL OXIDASE | OPTIC-NERVE HEAD | OPEN-ANGLE GLAUCOMA | EXFOLIATION SYNDROME | OCULAR HYPERTENSION | GENE-EXPRESSION | OPHTHALMOLOGY | FOLLOW-UP | EXTRACELLULAR-MATRIX | INTRAOCULAR-PRESSURE | DAMAGE | Elastic Tissue - ultrastructure | Glaucoma, Open-Angle - genetics | Humans | Glaucoma, Open-Angle - pathology | Male | Gene Expression Regulation, Enzymologic - physiology | Amino Acid Oxidoreductases - metabolism | Amino Acid Oxidoreductases - genetics | Aged, 80 and over | Female | Collagen - genetics | Microfilament Proteins - metabolism | Microfilament Proteins - genetics | Real-Time Polymerase Chain Reaction | Extracellular Matrix Proteins - metabolism | Fluorescent Antibody Technique, Indirect | Transforming Growth Factor beta1 - pharmacology | Astrocytes - drug effects | Elastin - metabolism | Fibrillin-1 | Disease Susceptibility | Extracellular Matrix Proteins - genetics | Risk Factors | Cells, Cultured | Enzyme Inhibitors - pharmacology | Amino Acid Oxidoreductases - antagonists & inhibitors | Exfoliation Syndrome - pathology | Optic Disk - ultrastructure | Fibrillins | Disease Progression | Extracellular Matrix - enzymology | Collagen - metabolism | Glaucoma, Open-Angle - enzymology | Elastin - genetics | Aminopropionitrile - pharmacology | Optic Disk - enzymology | Aged | Tissue Donors | Exfoliation Syndrome - genetics | Elastic Tissue - enzymology | Exfoliation Syndrome - enzymology | Astrocytes - metabolism | Glaucoma | Elastin | Risk factors | Index Medicus
Journal Article
by van Koolwijk, Leonieke M. E and Ramdas, Wishal D and Ikram, M. Kamran and Jansonius, Nomdo M and Pasutto, Francesca and Hysi, Pirro G and Macgregor, Stuart and Janssen, Sarah F and Hewitt, Alex W and Viswanathan, Ananth C and ten Brink, Jacoline B and Hosseini, S. Mohsen and Amin, Najaf and Despriet, Dominiek D. G and Willemse-Assink, Jacqueline J. M and Kramer, Rogier and Rivadeneira, Fernando and Struchalin, Maksim and Aulchenko, Yurii S and Weisschuh, Nicole and Zenkel, Matthias and Mardin, Christian Y and Gramer, Eugen and Welge-Lüssen, Ulrich and Montgomery, Grant W and Carbonaro, Francis and Young, Terri L and Bellenguez, Céline and McGuffin, Peter and Foster, Paul J and Topouzis, Fotis and Mitchell, Paul and Wang, Jie Jin and Wong, Tien Y and Czudowska, Monika A and Hofman, Albert and Uitterlinden, Ane G and Wolfs, Roger C. W and de Jong, Paulus T. V. M and Oostra, Ben A and Paterson, Anew D and Mackey, David A and Bergen, Arthur A. B and Reis, Ané and Hammond, Christopher J and Vingerling, Johannes R and Lemij, Hans G and Klaver, Caroline C. W and van Duijn, Cornelia M 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, Auey 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 Freeman, Colin and Hellenthal, Garrett and Giannoulatou, Eleni and Pirinen, Matti and Pearson, Richard and Strange, Amy and Su, Zhan and Vukcevic, Damjan and Langford, Cordelia and Hunt, Sarah E and Edkins, Sarah and Gwilliam, Rhian and Blackburn, Hannah and Bumpstead, Suzannah J and nov, Serge and Gillman, Matthew and Gray, Emma and Hammond, Naomi and Jayakumar, Alagurevathi and McCann, Owen T and Liddle, Jennifer and Potter, Simon C and Ravinarajah, Radhi and Ricketts, Michelle and Waller, Matthew and Weston, Paul and Widaa, Sara and Whittaker, Pamela and McCarthy, Mark I and DCCT-EDIC Res Grp and Wellcome Trust Case Control and Wellcome Trust Case Control Consortium 2 and DCCT/EDIC Research Group and The DCCT/EDIC Research Group
PLoS genetics, ISSN 1553-7390, 2012, Volume 8, Issue 5, pp. e1002611 - e1002611
Journal Article
American Journal of Pathology, The, ISSN 0002-9440, 2008, Volume 173, Issue 6, pp. 1724 - 1735
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
JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 12/2017, Volume 127, Issue 12, pp. 4421 - 4436
Journal Article
by Khor, Chiea Chuen and Do, Tan and Jia, Hongyan and Nakano, Masakazu and George, Ronnie and Abu-Amero, Khaled and Duvesh, Roopam and Chen, Li Jia and Li, Zheng and Nongpiur, Monisha E and Perera, Shamira A and Qiao, Chunyan and Wong, Hon-Tym and Sakai, Hiroshi and De Melo, Mônica Barbosa and Lee, Mei-Chin and SChan, Anita and Azhany, Yaakub and Dao, Thi Lam Huong and Ikeda, Yoko and Perez-Grossmann, Rodolfo A and Zarnowski, Tomasz and Day, Alexander C and Jonas, Jost B and Tam, Pancy O.S and Tran, Tuan Anh and Ayub, Humaira and Akhtar, Farah and Micheal, Shazia and Chew, Paul T.K and Aljasim, Leyla A and Dada, Tanuj and Luu, Tam Thi and Awadalla, Mona S and Kitnarong, Naris and Wanichwecharungruang, Boonsong and Aung, Yee Yee and Mohamed-Noor, Jelinar and Vijayan, Saravanan and Sarangapani, Sripriya and Husain, Rahat and Jap, Aliza and Baskaran, Mani and Goh, David and Su, Daniel H and Wang, Huaizhou and Yong, Vernon K and Yip, Leonard W and Trinh, Tuyet Bach and Makornwattana, Manchima and Nguyen, Thanh Thu and Leuenberger, Edgar U and Park, Ki-Ho and Wiyogo, Widya Artini and SKumar, Rajesh and Tello, Celso and Kurimoto, Yasuo and Thapa, Suman S and Pathanapitoon, Kessara and Salmon, John F and Sohn, Yong Ho and Fea, Antonio and Ozaki, Mineo and Lai, Jimmy S.M and Tantisevi, Visanee and Khaing, Chaw Chaw and Mizoguchi, Takanori and Nakano, Satoko and Kim, Chan-Yun and Tang, Guangxian and Fan, Sujie and Wu, Renyi and Meng, Hailin and Nguyen, Thi Thuy Giang and Tran, Tien Dat and Ueno, Morio and Martinez, Jose Maria and Ramli, Norlina and Aung, Yin Mon and Reyes, Rigo Daniel and Vernon, Stephen A and Fang, Seng Kheong and Xie, Zhicheng and Chen, Xiao Yin and Foo, Jia Nee and Sim, Kar Seng and Wong, Tina T and Quek, Desmond T and Venkatesh, Rengaraj and Kavitha, Srinivasan and Krishnadas, Subbiah R and Soumittra, Nagaswamy and Shantha, Balekudaru and Lim, Boon-Ang and Ogle, Jeanne and Vasconcellos, José P. Cde and Costa, Vital P and Abe, Ricardo Y and De Souza, Bruno B and Sng, Chelvin C and ...
Nature Genetics, ISSN 1061-4036, 05/2016, Volume 48, Issue 5, pp. 556 - 562
Journal Article
by Aung, Tin and Ozaki, Mineo and Mizoguchi, Takanori and Allingham, R Rand and Li, Zheng and Haripriya, Aravind and Nakano, Satoko and Uebe, Steffen and Harder, Jeffrey M and Chan, Anita S.Y and Lee, Mei Chin and Burdon, Kathryn P and Astakhov, Yury S and Abu-Amero, Khaled K and Zenteno, Juan C and Nilgün, Yildirim and Zarnowski, Tomasz and Pakravan, Mohammad and Safieh, Leen Abu and Jia, Liyun and Wang, Ya Xing and Williams, Susan and Paoli, Daniela and Schlottmann, Patricio G and Huang, Lulin and Sim, Kar Seng and Foo, Jia Nee and Nakano, Masakazu and Ikeda, Yoko and Kumar, Rajesh S and Ueno, Morio and Manabe, Shin-Ichi and Hayashi, Ken and Kazama, Shigeyasu and Ideta, Ryuichi and Mori, Yosai and Miyata, Kazunori and Sugiyama, Kazuhisa and Higashide, Tomomi and Chihara, Etsuo and Inoue, Kenji and Ishiko, Satoshi and Yoshida, Akitoshi and Yanagi, Masahide and Kiuchi, Yoshiaki and Aihara, Makoto and Ohashi, Tsutomu and Sakurai, Toshiya and Sugimoto, Takako and Chuman, Hideki and Matsuda, Fumihiko and Yamashiro, Kenji and Gotoh, Norimoto and Miyake, Masahiro and Astakhov, Sergei Y and Osman, Essam A and Al-Obeidan, Saleh A and Owaidhah, Ohoud and Al-Jasim, Leyla and Shahwan, Sami Al and Fogarty, Rhys A and Leo, Paul and Yetkin, Yaz and Ouz, Çilingir and Kanavi, Mozhgan Rezaei and Beni, Afsaneh Nederi and Yazdani, Shahin and Akopov, Evgeny L and Toh, Kai-Yee and Howell, Gareth R and Orr, Andrew C and Goh, Yufen and Meah, Wee Yang and Peh, Su Qin and Kosior-Jarecka, Ewa and Lukasik, Urszula and Krumbiegel, Mandy and Vithana, Eranga N and Wong, Tien Yin and Liu, Yutao and Koch, Allison E. Ashley and Challa, Pratap and Rautenbach, Robyn M and Mackey, David A and Hewitt, Alex W and Mitchell, Paul and Wang, Jie Jin and Ziskind, Ari and Carmichael, Trevor and Ramakrishnan, Rangappa and Narendran, Kalpana and Venkatesh, Rangaraj and Vijayan, Saravanan and Zhao, Peiquan and Chen, Xueyi and Guadarrama-Vallejo, Dalia and Cheng, Ching Yu and Perera, Shamira A and Husain, Rahat and Ho, Su-Ling and ... and Blue Mountains Eye Study GWAS Team and Wellcome Trust Case Control Consor and Wellcome Trust Case Control Consortium 2
Nature Genetics, ISSN 1061-4036, 04/2015, Volume 47, Issue 4, pp. 387 - 392
Journal Article
Nature Communications, ISSN 2041-1723, 05/2017, Volume 8, Issue 1, pp. 15466 - 15466
Journal Article