New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

Por Springelkamp, Henriët, Iglesias, Adriana I., Mishra, Aniket, Höhn, René, Wojciechowski, Robert, Khawaja, Anthony P., Nag, Abhishek, Wang, Ya Xing, Wang, Jie Jin, Cuellar-Partida, Gabriel, Gibson, Jane, Bailey, Jessica N. Cooke, Vithana, Eranga N., Gharahkhani, Puya, Boutin, Thibaud, Ramdas, Wishal D., Zeller, Tanja, Luben, Robert N., Yonova-Doing, Ekaterina, Viswanathan, Ananth C., Yazar, Seyhan, Cree, Angela J., Haines, Jonathan L., Koh, Jia Yu, Souzeau, Emmanuelle, Wilson, James F., Amin, Najaf, Müller, Christian, Venturini, Cristina, Kearns, Lisa S., Kang, Jae Hee, Tham, Yih Chung, Zhou, Tiger, van Leeuwen, Elisabeth M., Nickels, Stefan, Sanfilippo, Paul, Liao, Jiemin, van der Linde, Herma, Zhao, Wanting, van Koolwijk, Leonieke M.E., Zheng, Li, Rivadeneira, Fernando, Baskaran, Mani, van der Lee, Sven J., Perera, Shamira, de Jong, Paulus T.V.M., Oostra, Ben A., Uitterlinden, André G., Fan, Qiao, Hofman, Albert, Tai, E-Shyong, Vingerling, Johannes R., Sim, Xueling, Wolfs, Roger C.W., Teo, Yik Ying, Lemij, Hans G., Khor, Chiea Chuen, Willemsen, Rob, Lackner, Karl J., Aung, Tin, Jansonius, Nomdo M., Montgomery, Grant, Wild, Philipp S., Young, Terri L., Burdon, Kathryn P., Hysi, Pirro G., Pasquale, Louis R., Wong, Tien Yin, Klaver, Caroline C.W., Hewitt, Alex W., Jonas, Jost B., Mitchell, Paul, Lotery, Andrew J., Foster, Paul J., Vitart, Veronique, Pfeiffer, Norbert, Craig, Jamie E., Mackey, David A., Hammond, Christopher J., Wiggs, Janey L., Cheng, Ching-Yu, van Duijn, Cornelia M., MacGregor, Stuart
Publicado no Hum Mol Genet (2017)

Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome

Por Galvez-Ruiz, Alberto, Lehner, Anthony J., Galindo-Ferreiro, Alicia, Schatz, Patrik
Publicado no Neuroophthalmology (2017)

Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation

Por Kang, Min Ji, Yim, Hye Bin, Hwang, Hyung Bin
Publicado no Indian J Ophthalmol (2016)

Optic nerve hypoplasia

Por Kaur, Savleen, Jain, Sparshi, Sodhi, Harsimrat B. S., Rastogi, Anju, Kamlesh
Publicado em 2013

CDKN2B-AS1 Genotype – Glaucoma Feature Correlations in Primary Open-Angle Glaucoma Patients from the United States

Por Pasquale, Louis R., Loomis, Stephanie J., Kang, Jae H., Yaspan, Brian L., Abdrabou, Wael, Budenz, Donald L., Chen, Teresa C., DelBono, Elizabeth, Friedman, David S., Gaasterland, Douglas, Gaasterland, Terry, Grosskreutz, Cynthia L., Lee, Richard K., Lichter, Paul R., Liu, Yutao, McCarty, Catherine A., Moroi, Sayoko E., Olson, Lana M., Realini, Tony, Rhee, Douglas J., Schuman, Joel S., Singh, Kuldev, Vollrath, Douglas, Wollstein, Gadi, Zack, Donald J., Allingham, R. Rand, Pericak-Vance, Margaret A., Weinreb, Robert N., Zhang, Kang, Hauser, Michael A., Richards, Julia E., Haines, Jonathan L., Wiggs, Janey L.
Publicado em 2012

Renal coloboma syndrome

Por Schimmenti, Lisa A
Publicado em 2011

Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis

Por Gencik, Martin, Finsterer, Josef
Publicado no Case Rep Genet (2015)

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Por Springelkamp, Henriët., Höhn, René, Mishra, Aniket, Hysi, Pirro G., Khor, Chiea-Chuen, Loomis, Stephanie J., Bailey, Jessica N. Cooke, Gibson, Jane, Thorleifsson, Gudmar, Janssen, Sarah F., Luo, Xiaoyan, Ramdas, Wishal D., Vithana, Eranga, Nongpiur, Monisha E., Montgomery, Grant W., Xu, Liang, Mountain, Jenny E., Gharahkhani, Puya, Lu, Yi, Amin, Najaf, Karssen, Lennart C., Sim, Kar-Seng, van Leeuwen, Elisabeth M., Iglesias, Adriana I., Verhoeven, Virginie J. M., Hauser, Michael A., Loon, Seng-Chee, Despriet, Dominiek D. G., Nag, Abhishek, Venturini, Cristina, Sanfilippo, Paul G., Schillert, Arne, Kang, Jae H., Landers, John, Jonasson, Fridbert, Cree, Angela J., van Koolwijk, Leonieke M. E., Rivadeneira, Fernando, Souzeau, Emmanuelle, Jonsson, Vesteinn, Menon, Geeta, Weinreb, Robert N., de Jong, Paulus T. V. M., Oostra, Ben A., Uitterlinden, André G., Hofman, Albert, Ennis, Sarah, Thorsteinsdottir, Unnur, Burdon, Kathryn P., Spector, Timothy D., Mirshahi, Alireza, Saw, Seang-Mei, Vingerling, Johannes R., Teo, Yik-Ying, Haines, Jonathan L., Wolfs, Roger C. W., Lemij, Hans G., Tai, E-Shyong, Jansonius, Nomdo M., Jonas, Jost B., Cheng, Ching-Yu, Aung, Tin, Viswanathan, Ananth C., Klaver, Caroline C. W., Craig, Jamie E., Macgregor, Stuart, Mackey, David A., Lotery, Andrew J., Stefansson, Kari, Bergen, Arthur A. B., Young, Terri L., Wiggs, Janey L., Pfeiffer, Norbert, Wong, Tien-Yin, Pasquale, Louis R., Hewitt, Alex W., van Duijn, Cornelia M., Hammond, Christopher J.
Publicado em 2014

Association of primary open-angle glaucoma with mitochondrial variants and haplogroups common in African Americans

Por Collins, David W., Gudiseva, Harini V., Trachtman, Benjamin, Bowman, Anita S., Sagaser, Anna, Sankar, Prithvi, Miller-Ellis, Eydie, Lehman, Amanda, Addis, Victoria, O'Brien, Joan M.
Publicado no Mol Vis (2016)

Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study (OHTS)

Por Scheetz, Todd E., Faga, Ben, Ortega, Lizette, Roos, Ben R., Gordon, Mae O., Kass, Michael A., Wang, Kai, Fingert, John H.
Publicado no Ophthalmology (2016)

Dominant optic atrophy

Por Lenaers, Guy, Hamel, Christian, Delettre, Cécile, Amati-Bonneau, Patrizia, Procaccio, Vincent, Bonneau, Dominique, Reynier, Pascal, Milea, Dan
Publicado em 2012