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The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 331 - 339
Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive... 
COMPLETE FORM | LIGHT RESPONSE | CHANNEL | MGLUR6 | SYNAPTIC-TRANSMISSION | MOUSE MODEL | GENETICS & HEREDITY | NYCTALOPIN | RICH REPEAT PROTEIN | MUTATIONS | CONE ELECTRORETINOGRAM | Electroretinography - methods | Night Blindness - metabolism | Humans | Dark Adaptation - genetics | Retinal Rod Photoreceptor Cells - metabolism | Gene Knockdown Techniques - methods | Myopia - metabolism | Receptors, Metabotropic Glutamate - genetics | Retinal Bipolar Cells - physiology | Chromosome Mapping - methods | Genetic Diseases, X-Linked | Night Blindness - genetics | Retinal Bipolar Cells - metabolism | Eye Diseases, Hereditary | Signal Transduction | Mice, Inbred C57BL | Zebrafish | Mice, Inbred C3H | Myopia - genetics | Animals | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Retinal Rod Photoreceptor Cells - physiology | Heterozygote | Mice | Receptors, G-Protein-Coupled - genetics | Mutation | Chromosome mapping | Usage | Gene mutations | Retinal bipolar cells | Causes of | Physiological aspects | Night blindness | Genetic aspects | Research | Analysis | Genetic disorders | Proteins | Rodents | Blindness | Gene expression | Cells | Index Medicus | Animal models | Antibodies | Insertion | stationary night blindness | Retina | Guanine nucleotide-binding protein | Electroretinograms | Depolarization | Signal transduction | Vision | Bipolar cells | Gene mapping | DNA sequencing | Report
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
Neuron, ISSN 0896-6273, 2011, Volume 71, Issue 3, pp. 460 - 473
Journal Article
Journal Article
Scientific reports, ISSN 2045-2322, 03/2018, Volume 8, Issue 1, pp. 4289 - 3
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper. 
Retinal degeneration | Retina | Congenital defects | Cholesterol | Opitz syndrome | Dogs
Journal Article
by Fritsche, Lars G and Igl, Wilmar and Bailey, Jessica N. Cooke and Grassmann, Felix and Sengupta, Sebanti and Bragg-Gresham, Jennifer L and Burdon, Kathryn and Hebbring, Scott J and Wen, Cindy and Gorski, Mathias and Kim, Ivana K and Cho, David and Zack, Donald and Souied, Eric and Scholl, Henik and Bala, Elisa and ELee, Kristine and Hunter, David J and Sardell, Rebecca J and Mitchell, Paul and Merriam, Joanna E and Cipriani, Francesco and Hoffman, Joshua D and Schick, Tina and Lechanteur, Yara T.E and Guymer, Robyn and Johnson, Matthew and Jiang, Yingda and Stanton, Chloe M and Buitendijk, Gabrielle and Zhan, Xiaowei and Kwong, Alan M and Boleda, Alexis and Brooks, Matthew and Gieser, Linn and Ratna Priya, Rinki and Branham, Kari E and Foerster, Johanna R and Heckenlively, John R and Othman, Mohammad I and Vote, Brendan J and Liang, Helena Hai and Souzeau, Emmanuelle and McAllister, Ian L and Isaacs, Timothy and Hall, Janette and Lake, Stewart and Mackey, David A and Constable, Ian J and Craig, Jamie E and Kitchner, Terrie E and Yang, Zhenglin and Su, Zhiguang and Luo, Hongrong and Chen, Daniel and Ouyang, Hong and Flagg, Ken and Lin, Danni and Mao, Guanping and Ferreyra, Henry and Stark, Klaus and Strachwitz, Claudia and Wolf, Armin and Brandl, Caroline and Rudolph, Guenther and Olden, Matthias and Morrison, Margaux A and Morgan, Denise and Schu, Matthew and Ahn, Jeeyun and Silvestri, Giuliana and ETsironi, Evangelia and Park, Kyu Hyung and Farrer, Lindsay and Orlin, Anton and Brucker, Alexander and Li, Mingyao and Curcio, Christine A and Mohand-Sa'd, Saddek and Sahel, José-Alain and Audo, Isabelle and Benchaboune, Mustapha and Cree, Angela and Rennie, Christina A and Goverdhan, Srinivas V and Grunin, Michelle and Hagbi-Levi, Shira and Campochiaro, Peter and Katsanis, Nicholas and Holz, Frank G and Blond, Frédéric and Blanché, Hél'ne and Deleuze, Jean-Fran'ois and Igo Jr., Robert and Truitt, Barbara and Peachey, Neal S and Meuer, Stacy M and Myers, Chelsea E and Moore, Emily L and Klein, Ronald and ...
Nature Genetics, ISSN 1061-4036, 02/2016, Volume 48, Issue 2, pp. 134 - 143
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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
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Journal Article