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Material Type: Artigo
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Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial CellsKrafchak, Charles M. ; Pawar, Hemant ; Moroi, Sayoko E. ; Sugar, Alan ; Lichter, Paul R. ; Mackey, David A. ; Mian, Shahzad ; Nairus, Theresa ; Elner, Victor ; Schteingart, Miriam T. ; Downs, Catherine A. ; Kijek, Theresa Guckian ; Johnson, Jenae M. ; Trager, Edward H. ; Rozsa, Frank W. ; Ali Mandal, Md Nawajes ; Epstein, Michael P. ; Vollrath, Douglas ; Ayyagari, Radha ; Boehnke, Michael ; Richards, Julia E.American journal of human genetics, 2005-11, Vol.77 (5), p.694-708 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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2 |
Material Type: Artigo
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Mechanosensitive ion channel gene survey suggests potential roles in primary open angle glaucomaLiu, Wendy W ; Kinzy, Tyler G ; Cooke Bailey, Jessica N ; Xu, Zihe ; Hysi, Pirro ; Wiggs, Janey LScientific reports, 2023-09, Vol.13 (1), p.15871-15871, Article 15871 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at DiagnosisFan, Bao Jian ; Bailey, Jessica Cooke ; Igo, Rob P ; Kang, Jae H ; Boumenna, Tahani ; Brilliant, Murray H ; Budenz, Donald L ; Fingert, John H ; Gaasterland, Terry ; Gaasterland, Douglas ; Hauser, Michael A ; Kraft, Peter ; Lee, Richard K ; Lichter, Paul R ; Liu, Yutao ; Moroi, Syoko E ; Myers, Jonathan S ; Pericak-Vance, Margaret A ; Realini, Anthony ; Rhee, Douglas J ; Richards, Julia E ; Ritch, Robert ; Schuman, Joel S ; Scott, William K ; Singh, Kuldev ; Sit, Arthur J ; Vollrath, Douglas ; Weinreb, Robert N ; Wollstein, Gadi ; Zack, Donald J ; Haines, Jonathan L ; Pasquale, Louis R ; Wiggs, Janey LArchives of ophthalmology (1960), 2019-10, Vol.137 (10), p.1190-1194 [Periódico revisado por pares]United States: American Medical AssociationTexto completo disponível |
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Material Type: Artigo
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Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set AnalysesKhawaja, Anthony P ; Cooke Bailey, Jessica N ; Kang, Jae Hee ; Allingham, R Rand ; Hauser, Michael A ; Brilliant, Murray ; Budenz, Donald L ; Christen, William G ; Fingert, John ; Gaasterland, Douglas ; Gaasterland, Terry ; Kraft, Peter ; Lee, Richard K ; Lichter, Paul R ; Liu, Yutao ; Medeiros, Felipe ; Moroi, Syoko E ; Richards, Julia E ; Realini, Tony ; Ritch, Robert ; Schuman, Joel S ; Scott, William K ; Singh, Kuldev ; Sit, Arthur J ; Vollrath, Douglas ; Wollstein, Gadi ; Zack, Donald J ; Zhang, Kang ; Pericak-Vance, Margaret ; Weinreb, Robert N ; Haines, Jonathan L ; Pasquale, Louis R ; Wiggs, Janey LInvestigative ophthalmology & visual science, 2016-09, Vol.57 (11), p.5046-5052 [Periódico revisado por pares]United States: The Association for Research in Vision and OphthalmologyTexto completo disponível |
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Material Type: Artigo
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Mitochondrial TXNRD2 and ME3 Genetic Risk Scores Are Associated with Specific Primary Open-Angle Glaucoma PhenotypesAboobakar, Inas F. ; Kinzy, Tyler G. ; Zhao, Yan ; Fan, Baojian ; Pasquale, Louis R. ; Qassim, Ayub ; Kolovos, Antonia ; Schmidt, Joshua M. ; Craig, Jamie E. ; Cooke Bailey, Jessica N. ; Wiggs, Janey L. ; Allingham, R. Rand ; Brilliant, Murray ; Budenz, Donald L. ; Cooke Bailey, Jessica N. ; Fingert, John H. ; Gaasterland, Douglas ; Gaasterland, Teresa ; Haines, Jonathan L. ; Hauser, Michael A. ; Lee, Richard K. ; Lichter, Paul R. ; Liu, Yutao ; Moroi, Syoko ; Myers, Jonathan ; Pasquale, Louis R. ; Pericak-Vance, Margaret ; Realini, Anthony ; Rhee, Doug ; Richards, Julia E. ; Ritch, Robert ; Schuman, Joel S. ; Scott, William K. ; Singh, Kuldev ; Sit, Arthur J. ; Vollrath, Douglas ; Weinreb, Robert N. ; Wiggs, Janey L. ; Wollstein, Gadi ; Zack, Donald J.Ophthalmology (Rochester, Minn.), 2023-07, Vol.130 (7), p.756-763 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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6 |
Material Type: Artigo
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Association of CAV1/CAV2 Genomic Variants with Primary Open-Angle Glaucoma Overall and by Gender and Pattern of Visual Field LossLoomis, Stephanie J., MPH ; Kang, Jae H., ScD ; Weinreb, Robert N., MD ; Yaspan, Brian L., PhD ; Cooke Bailey, Jessica N., PhD ; Gaasterland, Douglas, MD ; Gaasterland, Terry, PhD ; Lee, Richard K., MD, PhD ; Lichter, Paul R., MD ; Budenz, Donald L., MD, MPH ; Liu, Yutao, PhD ; Realini, Tony, MD, MPH ; Friedman, David S., MD, PhD ; McCarty, Catherine A., PhD, MPH ; Moroi, Sayoko E., MD, PhD ; Olson, Lana, MPH ; Schuman, Joel S., MD ; Singh, Kuldev, MD, MPH ; Vollrath, Douglas, MD, PhD ; Wollstein, Gadi, MD ; Zack, Donald J., MD, PhD ; Brilliant, Murray, PhD ; Sit, Arthur J., MD ; Christen, William G., ScD, PhD ; Fingert, John, MD, PhD ; Kraft, Peter, PhD ; Zhang, Kang, MD, PhD ; Allingham, R. Rand, MD ; Pericak-Vance, Margaret A., PhD ; Richards, Julia E., PhD ; Hauser, Michael A., PhD ; Haines, Jonathan L., PhD ; Pasquale, Louis R., MD ; Wiggs, Janey L., MD, PhDOphthalmology (Rochester, Minn.), 2014-02, Vol.121 (2), p.508-516 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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CDKN2B-AS1 Genotype–Glaucoma Feature Correlations in Primary Open-Angle Glaucoma Patients From the United StatesPasquale, 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 LAmerican journal of ophthalmology, 2013-02, Vol.155 (2), p.342-353.e5 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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8 |
Material Type: Artigo
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Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibilityChintalapudi, Sumana R ; Maria, Doaa ; Di Wang, Xiang ; Bailey, Jessica N Cooke ; Hysi, Pirro G ; Wiggs, Janey L ; Williams, Robert W ; Jablonski, Monica MNature communications, 2017-11, Vol.8 (1), p.1755-12, Article 1755 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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9 |
Material Type: Artigo
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Loss-of-Function Mutations in the LIM-Homeodomain Gene, LMX1B, in Nail-Patella SyndromeVollrath, Douglas ; Jaramillo-Babb, Virna L. ; Clough, Mark V. ; McIntosh, Iain ; Scott, Kathleen M. ; Lichter, Paul R. ; Richards, Julia E.Human molecular genetics, 1998-07, Vol.7 (7), p.1091-1098 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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10 |
Material Type: Artigo
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The NEIGHBOR Consortium Primary Open-Angle Glaucoma Genome-wide Association Study: Rationale, Study Design, and Clinical VariablesWiggs, Janey L. ; Hauser, Michael A. ; Abdrabou, Wael ; Allingham, Robert Rand ; Budenz, Donald L. ; DelBono, Elizabeth ; Friedman, David S. ; Kang, Jae H. ; Gaasterland, Douglas ; Gaasterland, Terry ; Lee, Richard K. ; Lichter, Paul R. ; Loomis, Stephanie ; Liu, Yutao ; McCarty, Cathy ; Medeiros, Felipe A. ; Moroi, Sayoko E. ; Olson, Lana M. ; Realini, Anthony ; Richards, Julia E. ; Rozsa, Frank W. ; Schuman, Joel S. ; Singh, Kuldev ; Stein, Joshua D. ; Vollrath, Douglas ; Weinreb, Robert N. ; Wollstein, Gadi ; Yaspan, Brian L. ; Yoneyama, Sachiko ; Zack, Don ; Zhang, Kang ; Pericak-Vance, Margaret ; Pasquale, Louis R. ; Haines, Jonathan L.Journal of glaucoma, 2013-09, Vol.22 (7), p.517-525 [Periódico revisado por pares]United States: by Lippincott Williams & WilkinsTexto completo disponível |