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SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.
Roychaudhury A, Lee YR, Choi TI, Thomas MG, Khan TN, Yousaf H, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu CS, Kim TY, Lee KH, Kyung JJ, Wang T, Ku B, Chodirker BN, Hammer MF, Gottlob I, Norton WHJ, Gerlai R, Kim HG, Graziano C, Pippucci T, Iovino E, Montanari F, Severi G, Toro C, Boerkoel CF, Cha HS, Choi CY, Kim S, Yoon JH, Gilmore K, Vora NL, Davis EE, Chudley AE, Schwartz CE, Kim CH. Roychaudhury A, et al. Among authors: gottlob i. Ann Neurol. 2024 Nov;96(5):914-931. doi: 10.1002/ana.27037. Epub 2024 Jul 29. Ann Neurol. 2024. PMID: 39073169 Free article.
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.
Are we any closer to optimising amblyopia treatment?
Proudlock FA, Gottlob I. Proudlock FA, et al. Among authors: gottlob i. Clin Transl Med. 2024 Dec;14(12):e70080. doi: 10.1002/ctm2.70080. Clin Transl Med. 2024. PMID: 39617737 Free PMC article. No abstract available.
Optic Nerve Head Morphological Variation in Craniosynostosis: A Cohort Study.
Rufai SR, Thomas MG, Marmoy OR, Panteli V, Thompson DA, Bunce C, Henderson RH, Gore S, James G, Gottlob I, Dunaway DJ, Hayward R, Proudlock FA, Jeelani NUO, Bowman R. Rufai SR, et al. Among authors: gottlob i. Am J Ophthalmol. 2025 Jan;269:136-146. doi: 10.1016/j.ajo.2024.08.021. Epub 2024 Aug 30. Am J Ophthalmol. 2025. PMID: 39209208 Free article.
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
Igelman AD, White E, Tayyib A, Everett L, Vincent A, Heon E, Zeitz C, Michaelides M, Mahroo OA, Katta M, Webster A, Preising M, Lorenz B, Khateb S, Banin E, Sharon D, Luski S, Van Den Broeck F, Leroy BP, De Baere E, Walraedt S, Stingl K, Kuehlewein L, Kohl S, Reith M, Fulton A, Raghuram A, Meunier I, Dollfus H, Aleman TS, Bedoukian EC, O'Neil EC, Krauss E, Vincent A, Jordan C, Iannaccone A, Sen P, Sundaramurthy S, Nagasamy S, Balikova I, Casteels I, Borooah S, Yassin S, Nagiel A, Schwartz H, Zanlonghi X, Gottlob I, McLean RJ, Munier FL, Stephenson A, Sisk R, Koenekoop R, Wilson LB, Fredrick D, Choi D, Yang P, Pennesi ME. Igelman AD, et al. Among authors: gottlob i. Br J Ophthalmol. 2024 Jul 30:bjo-2023-323747. doi: 10.1136/bjo-2023-323747. Online ahead of print. Br J Ophthalmol. 2024. PMID: 39079892
Extended optical treatment versus early patching with an intensive patching regimen in children with amblyopia in Europe (EuPatch): a multicentre, randomised controlled trial.
Proudlock FA, Hisaund M, Maconachie G, Papageorgiou E, Manouchehrinia A, Dahlmann-Noor A, Khandelwal P, Self J, Beisse C, Gottlob I; EUPatch study group. Proudlock FA, et al. Among authors: gottlob i. Lancet. 2024 May 4;403(10438):1766-1778. doi: 10.1016/S0140-6736(23)02893-3. Lancet. 2024. PMID: 38704172 Free article. Clinical Trial.
ERG Responses in Albinism, Idiopathic Infantile Nystagmus, and Controls.
Tu Z, Degg C, Bach M, McLean R, Sheth V, Thomas MG, Yang S, Gottlob I, Proudlock FA. Tu Z, et al. Among authors: gottlob i. Invest Ophthalmol Vis Sci. 2024 Apr 1;65(4):11. doi: 10.1167/iovs.65.4.11. Invest Ophthalmol Vis Sci. 2024. PMID: 38573619 Free PMC article.
242 results