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by Marouli, Eirini and Graff, Mariaelisa and Medina-Gomez, Carolina and Lo, Ken Sin and Wood, Anew R and Kjaer, Troels R and Fine, Rebecca S and Lu, Yingchang and Schurmann, Claudia and Highland, Heather M and Rüeger, Sina and Thorleifsson, Gudmar and Justice, Anne E and Lamparter, David and Stirrups, Kathleen E and Turcot, Valérie and Young, Kristin L and Winkler, Thomas W and Esko, Tõnu and Karaderi, Tugce and Locke, Adam E and Masca, Nicholas G. D and Ng, Maggie C. Y and Mudgal, Poorva and Rivas, Manuel A and Vedantam, Sailaja and Mahajan, Anubha and Guo, Xiuqing and Abecasis, Goncalo and Aben, Katja K and Adair, Linda S and Alam, Dewan S and Albrecht, Eva and Allin, Kristine H and Allison, Matthew and Amouyel, Philippe and Appel, Emil V and Arveiler, Dominique and Asselbergs, Folkert W and Auer, Paul L and Balkau, Beverley and Banas, Bernhard and Bang, Lia E and Benn, Marianne and Bergmann, Sven and Bielak, Lawrence F and Blüher, Matthias and Boeing, Heiner and Boerwinkle, Eric and Böger, Carsten A and Bonnycastle, Lori L and Bork-Jensen, Jette and Bots, Michiel L and Bottinger, Erwin P and Bowden, Donald W and Brandslund, Ivan and Breen, Gerome and Brilliant, Murray H and Broer, Linda and Burt, Amber A and Butterworth, Adam S and Carey, David J and Caulfield, Mark J and Chambers, John C and Chasman, Daniel I and Chen, Yii-Der Ida and Chowdhury, Rajiv and Christensen, Cramer and Chu, Auey Y and Cocca, Massimiliano and Collins, Francis S and Cook, James P and Corley, Janie and Galbany, Jordi Corominas and Cox, Amanda J and Cuellar-Partida, Gabriel and Danesh, John and Davies, Gail and de Bakker, Paul I. W and de Borst, Gert J and de Denus, Simon and de Groot, Mark C. H and de Mutsert, Renée and Deary, Ian J and Dedoussis, George and Demerath, Ellen W and den Hollander, Anneke I and Dennis, Joe G and Di Angelantonio, Emanuele and nos, Fotios and Du, Mengmeng and Dunning, Alison M and Easton, Douglas F and Ebeling, Tapani and Edwards, Todd L and Ellinor, Patrick T and Elliott, Paul and Evangelou, Evangelos and Farmaki, Aliki-Eleni and Faul, Jessica D and ... and EPIC-CVD Consortium and GoT2D Genes Consortium and MAGIC Investigators and Global Lipids Genetics Consortium and EPIC-InterAct Consortium and ReproGen Consortium and ExomeBP Consortium and CHD Exome Consortium and T2D-Genes Consortium and CHD Exome+ Consortium and The EPIC-InterAct Consortium and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Enheten för biobanksforskning and Allmänmedicin and Umeå universitet and Medicin
Nature, ISSN 0028-0836, 2017, Volume 542, Issue 7640, pp. 186 - 190
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so... 
MULTIDISCIPLINARY SCIENCES | MISSING HERITABILITY | GENETIC ARCHITECTURE | INTERLEUKIN-11 | MICE | MUTATIONS | GENOME-WIDE ASSOCIATION | Cell Adhesion Molecules - genetics | Gene Frequency - genetics | Humans | Glycoproteins - metabolism | Male | Intercellular Signaling Peptides and Proteins - metabolism | Hedgehog Proteins - genetics | Proteolysis | NADPH Oxidases - genetics | Adult | Female | Interleukin-11 Receptor alpha Subunit - genetics | Somatomedins - metabolism | Glycosaminoglycans - biosynthesis | Glycoproteins - genetics | Multifactorial Inheritance - genetics | Procollagen N-Endopeptidase - genetics | Intercellular Signaling Peptides and Proteins - genetics | Interferon Regulatory Factors - genetics | Proteoglycans - biosynthesis | NADPH Oxidase 4 | Body Height - genetics | Genome, Human - genetics | Phenotype | Receptors, Androgen - genetics | Alleles | Genetic Variation - genetics | Pregnancy-Associated Plasma Protein-A - metabolism | ADAMTS Proteins - genetics | Stature | Genetic aspects | Observations | Genetic variation | Studies | Datasets | Disease | Genes | Deoxyribonucleic acid--DNA | Index Medicus | Hälsovetenskaper | Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi | Medical and Health Sciences | Medicin och hälsovetenskap | Public Health, Global Health, Social Medicine and Epidemiology | Health Sciences
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
Journal Article
Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 6, pp. 1375 - 1385
Journal Article
Nature Genetics, ISSN 1061-4036, 2013, Volume 45, Issue 7, pp. 813 - 817
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 09/2018, Volume 59, Issue 11, pp. 4384 - 4391
Purpose: To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between... 
genetic diseases | low vision | retinal dystrophy | AMAUROSIS | PHENOTYPE | RPE65 MUTATIONS | MECHANISMS | IDENTIFICATION | visual development | DEGENERATION | FEATURES | THERAPY | GENE | retina | DYSTROPHY | OPHTHALMOLOGY
Journal Article
by Visigalli, I and Cecere, F and Carriglio, N and Hernandez, R J and Hernandez, R J and De Simone, M and Vezzoli, M and Monti, L and Zino, E and Alfonso, E and Sanvito, F and Mauro, V and Norata, R and Acquati, S and Acquati, S and Redaelli, D and Redaelli, D and Dionisio, F and De Mattia, F and Scaramuzza, S and Rossi, C and Giannelli, S and Giannelli, S and Salerio, F and Sartirana, C and Brigida, I and Magni, S and Miglietta, S and Monteverde, S and Monti, I and Gregori, S and Ferrari, G and Aiuti, A and Castagnaro, L and Zancan, S and Cristofori, P and Naldini, L and Bonini, C and Waselle, L and Tissot, L and Sitjve, S and Büning, H and Ayuso, E and Déglon, N and Bueren, J and Trono, D and Nobrega, C and Mendonça, L and Marcelo, A and Lamazière, A and Tomé, S and Tomé, S and Déspres, G and Matos, C and Mechmet, F and Langui, D and den Dunnen, W and Pereira de Almeida, L and Cartier, N and Mitchell, J and Nemesh, J and Ghosh, S and Mello, C and McCaroll, S and Di Pasquale, G and Chandler, R J and Choi, E Y and Hubbard, B and Afione, S and Khalaj, M and Zheng, C and Grewe, B and Kaler, S G and Venditti, C P and Grimm, D and Grimm, D and Buj Bello, A and Nyns, E CA and Bingen, B O and Bart, C I and Kip, A and Poelma, R H and Volkers, L and Plomp, J J and Jangsangthong, W and Engels, M C and Schalij, M J and Zhang, G Q and Pijnappels, D A and Hildebrant, E and Penzes, J and Agbandje-McKenna, M and Gifford, R and Xiao, X and Akcakaya, P and Bobbin, M L and Guo, J A and Malagon-Lopez, J and Clement, K and Garcia, S P and ...
Human Gene Therapy, ISSN 1043-0342, 12/2018, Volume 29, Issue 12, pp. A1 - A169
Journal Article
Plos one, ISSN 1932-6203, 05/2016, Volume 11, Issue 5
Purpose To compare the effectiveness of bevacizumab and ranibizumab in the treatment of exudative age-related macular degeneration (AMD). Design Multicentre,... 
Journal Article
by Colijn, Johanna M and Verzijden, Timo and Meester-Smoor, Magda A and Klaver, Caroline C.W and Colijn, Johanna M and Demirkan, Ayse and Verzijden, Timo and Meester-Smoor, Magda A and Ahmad, Shahzad and van Duijn, Cornelia M and Klaver, Caroline C.W and den Hollander, Anneke I and Kersten, Eveline and Hoyng, Carel B and Klaver, Caroline C.W and Cougnard-Grégoire, Audrey and Merle, Benedicte M.J and Korobelnik, Jean-Francois and Delcourt, Cécile and Papageorgiou, Grigorios and Mulder, Monique T and Costa, Miguel Angelo and Silva, Rufino and Benlian, Pascale and Bertelsen, Geir and Bertelsen, Geir and Bron, Alain M and Creuzot-Garcher, Catherine and Claes, Birte and Hense, Hans-Werner and Erke, Maja Gran and Fauser, Sascha and Fauser, Sascha and Foster, Paul J and Khawaja, Anthony P and Foster, Paul J and Hammond, Christopher J and Williams, Katie M and Hammond, Christopher J and Williams, Katie M and Khawaja, Anthony P and Korobelnik, Jean-Francois and Piermarocchi, Stefano and Segato, Tatiana and Silva, Rufino and Silva, Rufino and Souied, Eric H and Papageorgiou, Grigorios and Acar, Niyazi and Altay, Lebriz and Anastosopoulos, Eleftherios and Azuara-Blanco, Augusto and Berendschot, Tos and Berendschot, Tos and Bergen, Arthur and Bertelsen, Geir and Binquet, Christine and Bird, Alan and Bobak, Martin and Larsen, Morten Bøgelund and Boon, Camiel and Bourne, Rupert and Brétillon, Lionel and Broe, Rebecca and Bron, Alain and Buitendijk, Gabrielle and Cachulo, Maria Luz and Capuano, Vittorio and Carrière, Isabelle and Chakravarthy, Usha and Chan, Michelle and Chang, Petrus and Colijn, Johanna and Cougnard-Grégoire, Audrey and Cree, Angela and Creuzot-Garcher, Catherine and Cumberland, Phillippa and Cunha-Vaz, José and Daien, Vincent and De Jong, Eiko and Deak, Gabor and Delcourt, Cécile and Delyfer, Marie-Noëlle and Hollander, Anneke den and Dietzel, Martha and Erke, Maja Gran and Faria, Pedro and Farinha, Claudia and Fauser, Sascha and Finger, Robert and Fletcher, Astrid and Foster, Paul and Founti, Panayiota and Gorgels, Theo and Grauslund, Jakob and Grus, Franz and Hammond, Christopher and Heesterbeek, Thomas and Hense, Hans-Werner and Hermann, Manuel and ... and EYE-RISK Consortium and European Eye Epidemiology Consorti and European Eye Epidemiology Consortium
Ophthalmology, ISSN 0161-6420, 03/2019, Volume 126, Issue 3, pp. 393 - 406
Purpose: Genetic and epidemiologic studies have shown that lipid genes and high-density lipoproteins (HDLs) are implicated in age-related macular degeneration... 
Journal Article
Plos One, ISSN 1932-6203, 2014, Volume 9, Issue 11, pp. e112682 - e112682
Age-related macular degeneration (AMD) is the leading cause of blindness in the Western world. AMD is a multifactorial disorder but complement-mediated... 
SYSTEM | MACULOPATHY | RISK ALLELES | BLUE MOUNTAINS EYE | CLINICAL-TRIAL | CFH | MULTIDISCIPLINARY SCIENCES | FACTOR-H POLYMORPHISM | DIETARY ANTIOXIDANTS | PREVALENCE | RANIBIZUMAB | Retina - drug effects | Macular Degeneration - diet therapy | Macular Degeneration - immunology | Complement C3d - immunology | Epithelial Cells - drug effects | Humans | Complement C5a - metabolism | Male | Retina - immunology | Complement C3d - metabolism | Complement Factor B - metabolism | Zinc Sulfate - administration & dosage | Aged, 80 and over | Female | Epithelial Cells - cytology | Complement Activation - drug effects | Retinal Pigment Epithelium - drug effects | Complement Factor H - immunology | Gene Expression | Complement C3 - metabolism | Cells, Cultured | Macular Degeneration - blood | Proteins - immunology | Complement C3 - immunology | Proteins - genetics | Complement Factor H - metabolism | Copper Sulfate - administration & dosage | Epithelial Cells - immunology | Retinal Pigment Epithelium - immunology | Complement Factor B - immunology | Aged | Complement C5a - immunology | Mutation | Dietary Supplements | Retina - pathology | Retinal Pigment Epithelium - cytology | Macular Degeneration - pathology | Laboratories | Complement component C5a | Retina | Systematic review | Activation | Complement | Sulfates | Peritoneal dialysis | Macular degeneration | Complement factor H | Membrane attack complex | Degeneration | Supplementation | Age | Dietary supplements | Inflammation | Patients | Fatty acids | Zinc | Hypotheses | Complement activation | Complement component C3 | Blindness | Anaphylatoxin C5a | Eye diseases | Catabolism | Index Medicus | Basic Medicine | Other Basic Medicine | Andra medicinska och farmaceutiska grundvetenskaper | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article