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Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, pp. e49083 - e49083
Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal endothelium and is the leading indication for corneal transplantation.... 
PATHOGENESIS | APOPTOSIS | CTG REPEAT | UNFOLDED PROTEIN RESPONSE | MENTAL-RETARDATION | ENDOTHELIAL DYSTROPHY | MULTIDISCIPLINARY SCIENCES | INHERITANCE | PITT-HOPKINS-SYNDROME | MISSENSE MUTATIONS | HAPLOINSUFFICIENCY | Blotting, Southern | Fuchs' Endothelial Dystrophy - genetics | Genetic Predisposition to Disease | Reproducibility of Results | Transcription Factor 4 | Humans | Middle Aged | Molecular Sequence Data | Male | Transcription Factors - genetics | Sequence Analysis, DNA | Case-Control Studies | Genome, Human - genetics | Microsatellite Repeats - genetics | Base Sequence | Alleles | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Aged, 80 and over | Trinucleotide Repeat Expansion - genetics | Female | Aged | Chromosomes, Human, Pair 18 - genetics | Genetic aspects | Single nucleotide polymorphisms | Genes | Analysis | Cornea | Transcription factors | Laboratories | Intellectual disabilities | Pathogenesis | Transplantation | Biochemistry | Single-nucleotide polymorphism | Kinases | Gene sequencing | Proteins | Primers | DNA repeat expansion | Southern blotting | Expansion | Chromosomes | Deoxyribonucleic acid--DNA | Edema | Health risks | Data processing | Patients | Endothelium | White blood cells | Corneal dystrophy | Dystrophy | Genetic testing | Molecular biology | DNA sequencing | Apoptosis | Polymorphism | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
by Fritsche, Lars G and Chen, Wei and Schu, Matthew and Yaspan, Brian L and Yu, Yi and Thorleifsson, Gudmar and Zack, Donald J and Arakawa, Satoshi and Cipriani, Valentina and Ripke, Stephan and Igo, Robert P and Buitendijk, Gabriëlle H. S and Sim, Xueling and Weeks, Daniel E and Guymer, Robyn H and Merriam, Joanna E and Francis, Peter J and Hannum, Gregory and Agarwal, Anita and Armbrecht, Ana Maria and Audo, Isabelle and Aung, Tin and Barile, Gaetano R and Benchaboune, Mustapha and Bird, Alan C and Bishop, Paul N and Branham, Kari E and Brooks, Matthew and Brucker, Alexander J and Cade, William H and Cain, Melinda S and Campochiaro, Peter A and Chan, Chi-Chao and Cheng, Ching-Yu and Chew, Emily Y and Chin, Kimberly A and Chowers, Itay and Clayton, David G and Cojocaru, Radu and Conley, Yvette P and Cornes, Belinda K and Daly, Mark J and Dhillon, Baljean and Edwards, Albert O and Evangelou, Evangelos and Fagerness, Jesen and Ferreyra, Henry A and Friedman, James S and Geirsdottir, Asbjorg and George, Ronnie J and Gieger, Christian and Gupta, Neel and Hagstrom, Stephanie A and Harding, Simon P and Haritoglou, Christos and Heckenlively, John R and Holz, Frank G and Hughes, Guy and Ioannidis, John P. A and Ishibashi, Tatsuro and Joseph, Peronne and Jun, Gyungah and Kamatani, Yoichiro and Katsanis, Nicholas and N Keilhauer, Claudia and Khan, Jane C and Kim, Ivana K and Kiyohara, Yutaka and Klein, Barbara E. K and Klein, Ronald and Kovach, Jaclyn L and Kozak, Igor and Lee, Clara J and Lee, Kristine E and Lichtner, Peter and Lotery, Andrew J and Meitinger, Thomas and Mitchell, Paul and Mohand-Saïd, Saddek and Moore, Anthony T and Morgan, Denise J and Morrison, Margaux A and Myers, Chelsea E and Naj, Adam C and Nakamura, Yusuke and Okada, Yukinori and Orlin, Anton and Ortube, M Carolina and Othman, Mohammad I and Pappas, Chris and Park, Kyu Hyung and Pauer, Gayle J. T and Peachey, Neal S and Poch, Olivier and Priya, Rinki Ratna and Reynolds, Robyn and Richardson, Andrea J and Ripp, Raymond and Rudolph, Guenther and Ryu, Euijung and ... and AMD Gene Consortium and The AMD Gene Consortium
Nature Genetics, ISSN 1061-4036, 04/2013, Volume 45, Issue 4, pp. 433 - 439
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 2014, Volume 127, Issue 6, pp. 811 - 824
Journal Article
The Lancet Neurology, ISSN 1474-4422, 11/2017, Volume 16, Issue 11, pp. 917 - 924
Journal Article
Journal Article
by Wei Chen and Dwight Stambolian and Albert O. Edwards and Kari E. Branham and Mohammad Othman and Johanna Jakobsdottir and Nirubol Tosakulwong and Margaret A. Pericak-Vance and Peter A. Campochiaro and Michael L. Klein and Perciliz L. Tan and Yvette P. Conley and Atsuhiro Kanda and Laura Kopplin and Yanming Li and Katherine J. Augustaitis and Athanasios J. Karoukis and William K. Scott and Anita Agarwal and Jaclyn L. Kovach and Stephen G. Schwartz and Eric A. Postel and Matthew Brooks and Keith H. Baratz and William L. Brown and Complications of Age-Related Macular Degeneration Prevention Trial (CAPT) Research Group and Alexander J. Brucker and Anton Orlin and Gary Brown and Allen Ho and Carl Regillo and Larry Donoso and Lifeng Tian and Brian Kaderli and Dexter Hadley and Stephanie A. Hagstrom and Neal S. Peachey and Ronald Klein and Barbara E. K. Klein and Norimoto Gotoh and Kenji Yamashiro and Frederick Ferris and Jesen A. Fagerness and Robyn Reynolds and Lindsay A. Farrer and Ivana K. Kim and Joan W. Miller and Marta Cortón and Angel Carracedo and Manuel Sanchez-Salorio and Elizabeth W. Pugh and Kimberly F. Doheny and Maria Brion and Margaret M. DeAngelis and Daniel E. Weeks and Donald J. Zack and Emily Y. Chew and John R. Heckenlively and Nagahisa Yoshimura and Sudha K. Iyengar and Peter J. Francis and Nicholas Katsanis and Johanna M. Seddon and Jonathan L. Haines and Michael B. Gorin and Gonçalo R. Abecasis and Anand Swaroop and Mark T. Keating and Complications Age-Related Macular and Complications of Age-Related Macular Degeneration Prevention Trial Research Group and Complications of Age-Related Macular Degeneration Prevention Trial (CAPT) Research Group
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2010, Volume 107, Issue 16, pp. 7401 - 7406
Journal Article
Journal Article