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Journal Article
PloS one, ISSN 1932-6203, 03/2012, Volume 7, Issue 3, p. e33001
Journal Article
Molecular vision, ISSN 1090-0535, 01/2015, Volume 21, pp. 88 - 97
Purpose: Aniridia is a rare panocular disorder characterized by iris hypoplasia and other associated eye anomalies. Heterozygous null mutations in paired box... 
DEFECTS | NONSENSE | DNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | OPHTHALMOLOGY | MESSENGER-RNA DECAY | PAX6 GENE | DELETIONS | MISSENSE MUTATIONS | PREDICTION | REGION | Iris - metabolism | Humans | Middle Aged | Cataract - pathology | Child, Preschool | Fovea Centralis - pathology | Male | Nystagmus, Congenital - genetics | Aniridia - genetics | Aniridia - pathology | DNA Mutational Analysis | Nystagmus, Pathologic - complications | Base Sequence | Child | Amino Acid Sequence | Eye Diseases, Hereditary - pathology | Eye Diseases, Hereditary - complications | Repressor Proteins - genetics | Aniridia - complications | Genetic Heterogeneity | India | Cataract - complications | Adolescent | Cataract - genetics | Mutation | Glaucoma - genetics | Paired Box Transcription Factors - genetics | Retinal Diseases - genetics | Nystagmus, Congenital - complications | Nystagmus, Pathologic - genetics | Open Reading Frames | Molecular Sequence Data | Infant | Retinal Diseases - congenital | Case-Control Studies | Retinal Diseases - pathology | Adult | Female | Eye Proteins - genetics | Nystagmus, Pathologic - pathology | Fovea Centralis - abnormalities | Genetic Association Studies | Introns | Retinal Diseases - complications | PAX6 Transcription Factor | Glaucoma - complications | Iris - pathology | Homeodomain Proteins - genetics | Eye Diseases, Hereditary - genetics | Haploinsufficiency | Nystagmus, Congenital - pathology | Aged | Glaucoma - pathology
Journal Article
by Li, Zheng and Allingham, R. Rand and Nakano, Masakazu and Jia, Liyun and Chen, Yuhong and Ikeda, Yoko and Mani, Baskaran and Chen, Li-Jia and Kee, Changwon and Garway-Heath, David F and Sripriya, Sarangapani and Fuse, Nobuo and Abu-Amero, Khaled K and Huang, Chukai and Namburi, Prasanthi and Burdon, Kathryn and Perera, Shamira A and Gharahkhani, Puya and Lin, Ying and Ueno, Morio and Ozaki, Mineo and Mizoguchi, Takanori and Krishnadas, Subbiah Ramasamy and Osman, Essam A and Lee, Mei Chin and Chan, Anita S.Y and Tajudin, Liza-Sharmini A and Do, Tan and Goncalves, Aurelien and Reynier, Pascal and Zhang, Hong and Bourne, Rupert and Goh, David and Broadway, David and Husain, Rahat and Negi, Anil K and Su, Daniel H and Ho, Ching-Lin and Blanco, Augusto Azuara and Leung, Christopher K.S and Wong, Tina T and Yakub, Azhany and Liu, Yutao and Nongpiur, Monisha E and Han, Jong Chul and Hon, Do Nhu and Shantha, Balekudaru and Zhao, Bowen and Sang, Jinghong and Zhang, NiHong and Sato, Ryuichi and Yoshii, Kengo and Panda-Jonas, Songhomita and Ashley Koch, Allison E and Herndon, Leon W and Moroi, Sayoko E and Challa, Pratap and Foo, Jia Nee and Bei, Jin-Xin and Zeng, Yi-Xin and Simmons, Cameron P and Bich Chau, Tran Nguyen and Sharmila, Philomenadin Ferdinamarie and Chew, Merwyn and Lim, Blanche and Tam, Pansy O.S and Chua, Elaine and Ng, Xiao Yu and Yong, Victor H.K and Chong, Yaan Fun and Meah, Wee Yang and Vijayan, Saravanan and Seongsoo, Sohn and Xu, Wang and Teo, Yik Ying and Cooke Bailey, Jessica N and Kang, Jae H and Haines, Jonathan L and Cheng, Ching Yu and Saw, Seang-Mei and Tai, E.-Shyong and Richards, Julia E and Ritch, Robert and Gaasterland, Douglas E and Pasquale, Louis R and Liu, Jianjun and Jonas, Jost B and Milea, Dan and George, Ronnie and Al-Obeidan, Saleh A and Mori, Kazuhiko and Macgregor, Stuart and Hewitt, Alex W and Girkin, Christopher A and Zhang, Mingzhi and Sundaresan, Periasamy and Vijaya, Lingam and Mackey, David A and Wong, Tien Yin and Craig, Jamie E and ... and ICAARE-Glaucoma Consortium and NEIGHBORHOOD Consortium
Human molecular genetics, ISSN 0964-6906, 07/2015, Volume 24, Issue 13, pp. 3880 - 3892
Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome... 
NUMBER | RISK-FACTORS | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | SUSCEPTIBILITY | GENETICS & HEREDITY | LOCI | PEOPLE | IDENTIFICATION | LINKAGE | CANCER | GENOME-WIDE ASSOCIATION | Life Sciences | Human health and pathology | Association Studies
Journal Article
Human molecular genetics, ISSN 0964-6906, 04/2013, Volume 22, Issue 7, pp. 1432 - 1442
Journal Article
BMC ophthalmology, ISSN 1471-2415, 2010, Volume 10, Issue 1, pp. 3 - 3
Journal Article
MOLECULAR GENETICS & GENOMIC MEDICINE, ISSN 2324-9269, 07/2017, Volume 5, Issue 4, pp. 323 - 335
Background Primary open-angle glaucoma (POAG) is a complex disease of multigenic inheritance and the most common subtype of glaucoma. SIX6 encodes a... 
TRANSCRIPTION FACTORS | COMMON VARIANTS | SUSCEPTIBILITY LOCI | Gene expression regulation | XENOPUS-LAEVIS | SIX6 | primary open-angle glaucoma | GENETICS & HEREDITY | zebrafish | TO-DISC RATIO | DIFFERENTIATION | 6 FAMILY | HOMEOBOX GENE | EXPRESSION | vertical cup to disc ratio | GENOME-WIDE ASSOCIATION
Journal Article