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Year Number of Results
2010 1
2011 1
2012 3
2013 1
2016 2
2017 4
2018 1
2019 1
2020 2
2021 0
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16 results
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Page 1
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL. Souma T, et al. Among authors: javadiyan s. J Clin Invest. 2016 Jul 1;126(7):2575-87. doi: 10.1172/JCI85830. Epub 2016 Jun 6. J Clin Invest. 2016. PMID: 27270174 Free PMC article.
Association between viral infection and increased mucosal eosinophils and CD8+ CD103+ T cells in chronic rhinosinusitis.
Goggin RK, Bennett CA, Ramezanpour M, Hu H, Fenix K, Bassiouni A, Javadiyan S, Bialasiewicz S, Wormald PJ, Psaltis AJ, Vreugde S. Goggin RK, et al. Among authors: javadiyan s. Int Forum Allergy Rhinol. 2020 Aug;10(8):978-980. doi: 10.1002/alr.22564. Epub 2020 May 28. Int Forum Allergy Rhinol. 2020. PMID: 32463993 No abstract available.
Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.
Lahola-Chomiak AA, Footz T, Nguyen-Phuoc K, Neil GJ, Fan B, Allen KF, Greenfield DS, Parrish RK, Linkroum K, Pasquale LR, Leonhardt RM, Ritch R, Javadiyan S, Craig JE, Allison WT, Lehmann OJ, Walter MA, Wiggs JL. Lahola-Chomiak AA, et al. Among authors: javadiyan s. Hum Mol Genet. 2019 Apr 15;28(8):1298-1311. doi: 10.1093/hmg/ddy429. Hum Mol Genet. 2019. PMID: 30561643 Free PMC article.
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.
Siggs OM, Souzeau E, Taranath DA, Dubowsky A, Chappell A, Zhou T, Javadiyan S, Nicholl J, Kearns LS, Staffieri SE, Narita A, Smith JEH, Pater J, Hewitt AW, Ruddle JB, Elder JE, Mackey DA, Burdon KP, Craig JE. Siggs OM, et al. Among authors: javadiyan s. Ophthalmology. 2020 Jun;127(6):758-766. doi: 10.1016/j.ophtha.2019.12.024. Epub 2020 Jan 7. Ophthalmology. 2020. PMID: 32085876
Angiopoietin-1 is required for Schlemm's canal development in mice and humans.
Thomson BR, Souma T, Tompson SW, Onay T, Kizhatil K, Siggs OM, Feng L, Whisenhunt KN, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Tanna CE, Hewitt AW, Mackey DA, Bradfield YS, Souzeau E, Javadiyan S, Wiggs JL, Pasutto F, Liu X, John SW, Craig JE, Jin J, Young TL, Quaggin SE. Thomson BR, et al. Among authors: javadiyan s. J Clin Invest. 2017 Dec 1;127(12):4421-4436. doi: 10.1172/JCI95545. Epub 2017 Nov 6. J Clin Invest. 2017. PMID: 29106382 Free PMC article.
High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.
Javadiyan S, Craig JE, Souzeau E, Sharma S, Lower KM, Mackey DA, Staffieri SE, Elder JE, Taranath D, Straga T, Black J, Pater J, Casey T, Hewitt AW, Burdon KP. Javadiyan S, et al. G3 (Bethesda). 2017 Oct 5;7(10):3257-3268. doi: 10.1534/g3.117.300109. G3 (Bethesda). 2017. PMID: 28839118 Free PMC article.
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