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Journal Article
Annals of Human Genetics, ISSN 0003-4800, 07/2019, Volume 83, Issue 4, pp. 285 - 290
Age‐related macular degeneration (AMD) is a disease of the elderly in which central vision is lost because of degenerative changes of the macula. The current... 
AMD | HTRA1 | ARMS2 | CFH | Pakistani population | genetic association study | Macular degeneration | Physiological aspects | Medicine, Experimental | Medical research | Single nucleotide polymorphisms | Analysis | Gene frequency | Alleles | Degeneration | Single-nucleotide polymorphism | Age | Geriatrics | Smoking
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, T and Ozaki, M and Lee, M.C and Schlotzer-Schrehardt, U and Thorleifsson, G and Mizoguchi, T and Igo, R.P., Jr and Haripriya, A and Williams, S.E and Astakhov, Y.S and Orr, A.C and Burdon, K.P and Nakano, S and Mori, K and Abu-Amero, K and Hauser, M and Li, Z and Prakadeeswari, G and Bailey, J.N and Cherecheanu, A.P and Kang, J.H and Nelson, S and Hayashi, K and Manabe, S.I and Kazama, S and Zarnowski, T and Inoue, K and Irkec, M and Coca-Prados, M and Sugiyama, K and Jarvela, I and Schlottmann, P and Lerner, S.F and Lamari, H and Nilgun, Y and Bikbov, M and Park, K.H and Cha, S.C and Yamashiro, K and Zenteno, J.C and Jonas, J.B and Kumar, R.S.S and Perera, S.A and Chan, A.S.Y and Kobakhidze, N and George, R and Vijaya, L and Do, T and Edward, D.P and Juan Marcos, L. de and Pakravan, M and Moghimi, S and Ideta, R and Bach-Holm, D and Kappelgaard, P and Wirostko, B and Thomas, S and Gaston, D and Bedard, K and Greer, W.L and Yang, Z and Chen, X and Huang, L and Sang, J and Jia, H and Jia, L and Qiao, C and Zhang, H and Liu, X and Zhao, B and Wang, Y.X and Xu, L and Leruez, S and Reynier, P and Chichua, G and Tabagari, S and Uebe, S and Zenkel, M and Berner, D and Mossbock, G and Weisschuh, N and Hoja, U and Welge-Luessen, U.C and Mardin, C and Founti, P and Chatzikyriakidou, A and Pappas, T and Anastasopoulos, E and Lambropoulos, A and Ghosh, A and Shetty, R and Porporato, N and Saravanan, V and Venkatesh, R and Shivkumar, C and Kalpana, N and Sarangapani, S and Kanavi, M.R and Beni, A.N and Yazdani, S and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 7, pp. 993 - 1004
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1... 
INDIVIDUALS | RISK LOCI | PSEUDOEXFOLIATION SYNDROME | INFLAMMATORY-BOWEL-DISEASE | METAANALYSIS | POLYMORPHISMS | COMMON SEQUENCE VARIANTS | GENETICS & HEREDITY | GLAUCOMA | BLOOD-PRESSURE | GENOME-WIDE ASSOCIATION | Haplotypes | Humans | Asian Continental Ancestry Group - genetics | Extracellular Matrix - metabolism | Male | Gene Expression Profiling | Mutation, Missense | Amino Acid Oxidoreductases - genetics | Exfoliation Syndrome - ethnology | RNA, Messenger - biosynthesis | Aged, 80 and over | Female | Spheroids, Cellular | Calcium Channels - genetics | Molecular Chaperones - biosynthesis | Eye - metabolism | Genetic Predisposition to Disease | Genome-Wide Association Study | Amino Acid Oxidoreductases - physiology | Molecular Chaperones - genetics | Cell Adhesion | Point Mutation | Alleles | Exfoliation Syndrome - genetics | Amino Acid Substitution | Exfoliatins | Disease susceptibility | Genetic aspects | Analysis | Risk factors | Glaucoma | Genes | Principal components analysis | Cardiovascular disease | Genomes | Biology | Loci | Exfoliation | Studies | Collaboration | Blindness | Alzheimers disease | Index Medicus | Life Sciences | Populations and Evolution | Microbiology and Parasitology | Parasitology | Quantitative Methods | Computer Science | Genetics | Santé publique et épidémiologie | Bioinformatics | Human genetics | Virology
Journal Article
Plos One, ISSN 1932-6203, 2015, Volume 10, Issue 3, pp. e0119806 - e0119806
Journal Article
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 06/2018, Volume 7, Issue 2, pp. 060 - 066
Abstract Bilateral frontoparietal polymicrogyria (BFPP, MIM 606854) is a heterogeneous autosomal recessive disorder of abnormal cortical lamination, leading to... 
Original Article | adhesion G protein-coupled receptor G1 | G protein-coupled receptor 56 | bilateral frontoparietal polymicrogyria | next-generation sequencing | Original | intellectual disability
Journal Article
Human molecular genetics, ISSN 0964-6906, 04/2019, Volume 28, Issue 15, pp. 2531 - 2548
LOXL1 (lysyl oxidase-like 1) has been identified as the major effect locus in pseudoexfoliation (PEX) syndrome, a fibrotic disorder of the extracellular matrix... 
General
Journal Article