未登录 Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy Afshari, Natalie A.; Igo, Robert P., Jr.; Morris, Nathan J.; Stambolian, Dwight; Sharma, Shiwani; Pulagam, V. Lakshmi; Dunn, Steven; Stamler, John F.; Truitt, Barbara J.; Rimmler, Jacqueline; Kuot, Abraham; Croasdale, Christopher R.; Qin, Xuejun; Burdon, Kathryn P.; Riazuddin, S. Amer; Mills, Richard; Klebe, Sonja; Minear, Mollie A.; Zhao, Jiagang; Balajonda, Elmer; Rosenwasser, George O.; Baratz, Keith H.; Mootha, V. Vinod; Patel, Sanjay V.; Gregory, Simon G.; Bailey-Wilson, Joan E.; Price, Marianne O.; Price, Francis W., Jr.; Craig, Jamie E.; Fingert, John H.; Gottsch, John D.; Aldave, Anthony J.; Klintworth, Gordon K.; Lass, Jonathan H.; Li, Yi-Ju; Iyengar, Sudha K. 分享 收藏
Mitochondrial Polymorphism A10398G and Haplogroup I Are Associated With Fuchs' Endothelial Corneal Dystrophy Li, Yi-Ju; Minear, Mollie A.; Qin, Xuejun; Rimmler, Jacqueline; Hauser, Michael A.; Allingham, R. Rand; Igo, Robert P.; Lass, Jonathan H.; Iyengar, Sudha K.; Klintworth, Gordon K.; Afshari, Natalie A.; Gregory, Simon G. 分享 收藏
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Human Phenotypically Distinct TGFBI Corneal Dystrophies Are Linked to the Stability of the Fourth FAS1 Domain of TGFBIp Runager, Kasper; Basaiawmoit, Rajiv V.; Deva, Taru; Andreasen, Maria; Valnickova, Zuzana; Sorensen, Charlotte S.; Karring, Henrik; Thogersen, Ida B.; Christiansen, Gunna; Underhaug, Jarl; Kristensen, Torsten; Nielsen, Niels Chr.; Klintworth, Gordon K.; Otzen, Daniel E.; Enghild, Jan J. 分享 收藏
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Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p Riazuddin, S. Amer; Zaghloul, Norann A.; Al-Saif, Amr; Davey, Lisa; Diplas, Bill H.; Meadows, Danielle N.; Eghrari, Allen O.; Minear, Mollie A.; Li, Yi-Ju; Klintworth, Gordon K.; Afshari, Natalie; Gregory, Simon G.; Gottsch, John D.; Katsanis, Nicholas 分享 收藏
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Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy Ren, ZX; Lin, PY; Klintworth, GK; Iwata, F; Munier, FL; Schorderet, DF; El Matri, L; Theendakara, V; Basti, S; Reddy, M; Hejtmancik, JF 分享 收藏
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A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis Allingham, RR; Seo, B; Rampersaud, E; Bembe, M; Challa, P; Liu, NP; Parrish, T; Karolak, L; Gilbert, J; Pericak-Vance, MA; Klintworth, GK; Vance, JM 分享 收藏
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