未登录 Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling Havrylov, Serhiy; Chrystal, Paul; van Baarle, Suey; French, Curtis R.; MacDonald, Ian M.; Avasarala, Jagannadha; Rogers, R. Curtis; Berry, Fred B.; Kume, Tsutomu; Waskiewicz, Andrew J.; Lehmann, Ordan J. 分享 收藏
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BMP3 is a novel locus involved in the causality of ocular coloboma Fox, Sabrina C.; Widen, Sonya A.; Asai-Coakwell, Mika; Havrylov, Serhiy; Benson, Matthew; Prichard, Lisa B.; Baddam, Pranidhi; Graf, Daniel; Lehmann, Ordan J.; Waskiewicz, Andrew J. 分享 收藏
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Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma Lahola-Chomiak, Adrian A.; Footz, Tim; Nguyen-Phuoc, Kim; Neil, Gavin J.; Fan, Baojian; Allen, Ken F.; Greenfield, David S.; Parrish, Richard K.; Linkroum, Kevin; Pasquale, Louis R.; Leonhardt, Ralf M.; Ritch, Robert; Javadiyan, Shari; Craig, Jamie E.; Allison, W. T.; Lehmann, Ordan J.; Walter, Michael A.; Wiggs, Janey L. 分享 收藏
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye Hocking, Jennifer C.; Famulski, Jakub K.; Yoon, Kevin H.; Widen, Sonya A.; Bernstein, Cassidy S.; Koch, Sophie; Weiss, Omri; Agarwala, Seema; Inbal, Adi; Lehmann, Ordan J.; Waskiewicz, Andrew J. 分享 收藏
Genetic background-dependent role of Egr1 for eyelid development Egr1在眼睑发育中的遗传背景依赖性作用 Oh, Jangsuk; Wang, Yujuan; Chen, Shida; Li, Peng; Du, Ning; Yu, Zu-Xi; Butcher, Donna; Gebregiorgis, Tesfay; Strachan, Erin; Lehmann, Ordan J.; Brooks, Brian P.; Chan, Chi-Chao; Leonard, Warren J. 分享 收藏
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A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma Liu, Chunqiao; Widen, Sonya A.; Williamson, Kathleen A.; Ratnapriya, Rinki; Gerth-Kahlert, Christina; Rainger, Joe; Alur, Ramakrishna P.; Strachan, Erin; Manjunath, Souparnika H.; Balakrishnan, Archana; Floyd, James A.; Li, Tiansen; Waskiewicz, Andrew; Brooks, Brian P.; Lehmann, Ordan J.; FitzPatrick, David R.; Swaroop, Anand 分享 收藏
Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease French, Curtis R.; Seshadri, Sudha; Destefano, Anita L.; Fornage, Myriam; Arnold, Corey R.; Gage, Philip J.; Skarie, Jonathan M.; Dobyns, William B.; Millen, Kathleen J.; Liu, Ting; Dietz, William; Kume, Tsutomu; Hofker, Marten; Emery, Dere; Childs, Sarah J.; Waskiewicz, Andrew J.; Lehmann, Orden J. 分享 收藏
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Mutation of SALL2 causes recessive ocular coloboma in humans and mice Kelberman, Daniel; Islam, Lily; Lakowski, Joern; Bacchelli, Chiara; Chanudet, Estelle; Lescai, Francesco; Patel, Aara; Stupka, Elia; Buck, Anja; Wolf, Stephan; Beales, Philip L.; Jacques, Thomas S.; Bitner-Glindzicz, Maria; Liasis, Alki; Lehmann, Ordan J.; Kohlhase, Juergen; Nischal, Ken K.; Sowden, Jane C. 分享 收藏
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Mutations in PIK3R1 Cause SHORT Syndrome Dyment, David A.; Smith, Amanda C.; Alcantara, Diana; Schwartzentruber, Jeremy A.; Basel-Vanagaite, Lina; Curry, Cynthia J.; Temple, I. Karen; Reardon, William; Mansour, Sahar; Haq, Mushfequr R.; Gilbert, Rodney; Lehmann, Ordan J.; Vanstone, Megan R.; Beaulieu, Chandree L.; Majewski, Jacek; Bulman, Dennis E.; O'Driscoll, Mark; Boycott, Kym M.; Innes, A. Micheil 分享 收藏
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies Asai-Coakwell, Mika; March, Lindsey; Dai, Xiao Hua; DuVal, Michele; Lopez, Irma; French, Curtis R.; Famulski, Jakub; De Baere, Elfride; Francis, Peter J.; Sundaresan, Periasamy; Sauve, Yves; Koenekoop, Robert K.; Berry, Fred B.; Allison, W. Ted; Waskiewicz, Andrew J.; Lehmann, Ordan J. 分享 收藏
Reply to Chakrabarti et al.: Corneal angiogenesis in patients with null FOXC1 variants Seo, Seungwoon; Singh, Hardeep P.; Lacal, Pedro M.; Sasman, Amy; Fatima, Anees; Liu, Ting; Schultz, Kathryn M.; Losordo, Douglas W.; Lehmann, Ordan J.; Kume, Tsutomu 分享 收藏
Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vascular growth Seo, Seungwoon; Singh, Hardeep P.; Lacal, Pedro M.; Sasman, Amy; Fatima, Anees; Liu, Ting; Schultz, Kathryn M.; Losordo, Douglas W.; Lehmann, Ordan J.; Kume, Tsutomu 分享 收藏
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies Ye, Ming; Berry-Wynne, Karyn M.; Asai-Coakwell, Mika; Sundaresan, Periasamy; Footz, Tim; French, Curtis R.; Abitbol, Marc; Fleisch, Valerie C.; Corbett, Nathan; Allison, W. Ted; Drummond, Garry; Walter, Michael A.; Underhill, T. Michael; Waskiewicz, Andrew J.; Lehmann, Ordan J. 分享 收藏
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