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27 results

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Page 1
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Genet Med. 2024 Jul 17:101216. doi: 10.1016/j.gim.2024.101216. Online ahead of print. Genet Med. 2024. PMID: 39033378 Free article.
Treatment during a developmental window prevents NF1-associated optic pathway gliomas by targeting Erk-dependent migrating glial progenitors.
Jecrois ES, Zheng W, Bornhorst M, Li Y, Treisman DM, Muguyo D, Huynh S, Andrew SF, Wang Y, Jiang J, Pierce BR, Mao H, Krause MK, Friend A, Nadal-Nicolas F, Stasheff SF, Li W, Zong H, Packer RJ, Zhu Y. Jecrois ES, et al. Among authors: stasheff sf. Dev Cell. 2021 Oct 25;56(20):2871-2885.e6. doi: 10.1016/j.devcel.2021.08.004. Epub 2021 Aug 23. Dev Cell. 2021. PMID: 34428430 Free article.
Deficits in cortical visual function.
Stasheff SF, Barton JJ. Stasheff SF, et al. Ophthalmol Clin North Am. 2001 Mar;14(1):217-42, x. Ophthalmol Clin North Am. 2001. PMID: 11370568 Review.
Visual dysfunction in retinal and optic nerve disease.
Murtha T, Stasheff SF. Murtha T, et al. Among authors: stasheff sf. Neurol Clin. 2003 May;21(2):445-81. doi: 10.1016/s0733-8619(02)00108-1. Neurol Clin. 2003. PMID: 12916487 Review.
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC. Whitman MC, et al. Among authors: stasheff sf. Am J Med Genet A. 2016 Feb;170A(2):297-305. doi: 10.1002/ajmg.a.37362. Epub 2015 Dec 6. Am J Med Genet A. 2016. PMID: 26639658 Free PMC article.
Human photoreceptor outer segments shorten during light adaptation.
Abràmoff MD, Mullins RF, Lee K, Hoffmann JM, Sonka M, Critser DB, Stasheff SF, Stone EM. Abràmoff MD, et al. Among authors: stasheff sf. Invest Ophthalmol Vis Sci. 2013 May 1;54(5):3721-8. doi: 10.1167/iovs.13-11812. Invest Ophthalmol Vis Sci. 2013. PMID: 23633665 Free PMC article.
27 results