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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
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2013, Volume 22, Issue 23, pp. 4857 - 4869
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2011, Volume 52, Issue 12, pp. 8828 - 8834
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2010, Volume 5, Issue 1, p. e8764
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 11/2018, Volume 39, Issue 6, pp. 763 - 770
Background: Age-related macular degeneration (AMD) is a common sight threatening condition. However, there are a number of monogenic macular dystrophies that... 
whole genome sequencing | nyctalopia | Macular dystrophy | C1QTNF5 | PROTEIN | PREVALENCE | FAMILY | CTRP5 | DEPOSITS | GENE | ONSET RETINAL DEGENERATION | DISEASE | GENETICS & HEREDITY | OPHTHALMOLOGY | Index Medicus
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 P 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, Hendrik P N and Bala, Elisa and Lee, Kristine E and Hunter, David J and Sardell, Rebecca J and Mitchell, Paul and Merriam, Joanna E and Cipriani, Valentina and Hoffman, Joshua D and Schick, Tina and Lechanteur, Yara T E and Guymer, Robyn H and Johnson, Matthew P and Jiang, Yingda and Stanton, Chloe M and Buitendijk, Gabriëlle H S and Zhan, Xiaowei and Kwong, Alan M and Boleda, Alexis and Brooks, Matthew and Gieser, Linn and Ratnapriya, 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 von Strachwitz, Claudia N and Wolf, Armin and Brandl, Caroline and Rudolph, Guenther and Olden, Matthias and Morrison, Margaux A and Morgan, Denise J and Schu, Matthew and Ahn, Jeeyun and Silvestri, Giuliana and Tsironi, Evangelia E and Park, Kyu Hyung and Farrer, Lindsay A and Orlin, Anton and Brucker, Alexander and Li, Mingyao and Curcio, Christine A and Mohand-Saïd, Saddek and Sahel, José-Alain and Audo, Isabelle and Benchaboune, Mustapha and Cree, Angela J 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, Hélène and Deleuze, Jean-François and Igo, Jr, Robert P 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, 02/2016, Volume 48, Issue 2, p. 134
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study... 
Genetic Predisposition to Disease | Genome-Wide Association Study | Mutation | Macular Degeneration - genetics | Humans
Journal Article
Immunobiology, ISSN 0171-2985, 2011, Volume 217, Issue 2, pp. 158 - 161
Abstract Objectives Age-related macular degeneration (AMD) is the commonest cause of blindness in Western populations. Risk is influenced by age, genetic and... 
Allergy and Immunology | Advanced Basic Science | Complement | Complement regulators | Single nucleotide polymorphism | Genetic association | Age-related macular degeneration | Genetic variation | SYSTEM | ACTIVATION | RISK | IMMUNOLOGY | ROLES | DISEASE | FACTOR-H POLYMORPHISM | COMMON | HAPLOTYPE | PROTEINS | ASSOCIATION | Genetic Predisposition to Disease | Genetic Association Studies | Humans | Properdin - genetics | CD55 Antigens - genetics | CD59 Antigens - genetics | Genotype | Male | Case-Control Studies | Genetic Variation | Macular Degeneration - genetics | Aged, 80 and over | Aging | Polymorphism, Single Nucleotide - genetics | Complement System Proteins - genetics | Female | Membrane Cofactor Protein - genetics | Aged | Macular Degeneration - pathology | Macular degeneration | DNA | Blindness | Medical genetics | Physiological aspects | Genetic research | Genetic aspects | Disease susceptibility | Neovascularization | Population genetics | Index Medicus | GA, geographic atrophy | HWE, Hardy–Weinberg equilibrium | CI, confidence interval | DAF, decay accelerating factor | MAC, membrane attack complex | MAF, minor allele frequency | RPE, retinal pigment epithelium | AMD, age-related macular degeneration | OR, odds ratio | CNV, choroidal neovascularisation | CFP, complement factor P | CFH, complement factor H | SNP, single nucleotide polymorphism | ARM, age-related maculopathy | DNA, deoxyribonucleic acid | CPI, complement factor I | MCP, membrane cofactor protein | CFB, complement factor B
Journal Article
Journal Article
12.