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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2017 | 1 |
2018 | 3 |
2020 | 1 |
2021 | 1 |
2022 | 2 |
2024 | 0 |
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7 results
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Foveal Cone Structure in Patients With Blue Cone Monochromacy.
Invest Ophthalmol Vis Sci. 2022 Oct 3;63(11):23. doi: 10.1167/iovs.63.11.23.
Invest Ophthalmol Vis Sci. 2022.
PMID: 36301530
Free PMC article.
Comparing Retinal Structure in Patients with Achromatopsia and Blue Cone Monochromacy Using OCT.
Patterson EJ, Langlo CS, Georgiou M, Kalitzeos A, Pennesi ME, Neitz J, Hardcastle AJ, Neitz M, Michaelides M, Carroll J.
Patterson EJ, et al.
Ophthalmol Sci. 2021 Sep;1(3):100047. doi: 10.1016/j.xops.2021.100047. Epub 2021 Jul 28.
Ophthalmol Sci. 2021.
PMID: 36186895
Free PMC article.
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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell L, Català Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, Kohl S.
Wissinger B, et al.
Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2115538119. doi: 10.1073/pnas.2115538119. Epub 2022 Jun 27.
Proc Natl Acad Sci U S A. 2022.
PMID: 35759666
Free PMC article.
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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ.
de Bruijn SE, et al.
Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5.
Am J Hum Genet. 2020.
PMID: 33022222
Free PMC article.
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Translational Retinal Research and Therapies.
Hardcastle AJ, Sieving PA, Sahel JA, Jacobson SG, Cideciyan AV, Flannery JG, Beltran WA, Aguirre GD.
Hardcastle AJ, et al.
Transl Vis Sci Technol. 2018 Sep 13;7(5):8. doi: 10.1167/tvst.7.5.8. eCollection 2018 Sep.
Transl Vis Sci Technol. 2018.
PMID: 30225158
Free PMC article.
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Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations.
Patterson EJ, Kalitzeos A, Kasilian M, Gardner JC, Neitz J, Hardcastle AJ, Neitz M, Carroll J, Michaelides M.
Patterson EJ, et al.
Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4238-4248. doi: 10.1167/iovs.18-24699.
Invest Ophthalmol Vis Sci. 2018.
PMID: 30128495
Free PMC article.
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Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium.
Fiorentino A, et al.
Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17.
Hum Mutat. 2018.
PMID: 28967191
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