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Lazdinyte, Simona; Schorderet, Daniel F; Schaller, André; Valmaggia, Christophe; Todorova, Margarita G (2019). Analysis of Inherited Optic Neuropathies. Klinische Monatsblätter für Augenheilkunde, 236(4), pp. 451-461. Thieme 10.1055/a-0829-6828
von Alpen, Désirée; Tran, Hoai Viet; Guex, Nicolas; Venturini, Giulia; Munier, Francis L; Schorderet, Daniel F; Haider, Neena B; Escher, Pascal (2015). Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain. Human mutation, 36(6), pp. 599-610. Wiley-Blackwell 10.1002/humu.22775
Schorderet, Daniel F; Bernasconi, Maude; Tiab, Leila; Favez, Tatiana; Escher, Pascal (2014). IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies-a price comparison with Sanger sequencing. Advances in experimental medicine and biology, 801, pp. 171-176. Springer 10.1007/978-1-4614-3209-8_22
Cottet, Sandra; Jüttner, René; Voirol, Nathalie; Chambon, Pierre; Rathjen, Fritz G; Schorderet, Daniel F; Escher, Pascal (2013). Retinal pigment epithelium protein of 65 kDA gene-linked retinal degeneration is not modulated by chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C/ chondroitin sulfate proteoglycan 5. Molecular vision, 19, pp. 2312-2320. Emory University
Schorderet, Daniel F; Iouranova, Alexandra; Favez, Tatiana; Tiab, Leila; Escher, Pascal (2013). IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. BioMed research international, 2013(198089), p. 198089. Hindawi Publishing Corporation 10.1155/2013/198089
Escher, Pascal; Tran, Hoai V; Vaclavik, Veronika; Borruat, Francois X; Schorderet, Daniel F; Munier, Francis L (2012). Double concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science, 53(8), pp. 4754-4764. Association for Research in Vision and Ophthalmology 10.1167/iovs.11-8693
Mataftsi, Asimina; Zografos, Leonidas; Balmer, Aubin; Uffer, Sylvie; Stupp, Roger; Janzer, Robert C; Pica, Alessia; Schorderet, Daniel F; Munier, Francis L (2012). Chiasmatic Infiltration Secondary to Late Malignant Transformation of Retinoma. Ophthalmic genetics, 33(3), pp. 155-8. London: Informa Healthcare 10.3109/13816810.2011.575431
Escher, Pascal; Schorderet, Daniel F; Cottet, Sandra (2011). Altered expression of the transcription factor Mef2c during retinal degeneration in Rpe65-/- mice. Investigative ophthalmology & visual science, 52(8), pp. 5933-5940. Association for Research in Vision and Ophthalmology 10.1167/iovs.10-6978
Osman, Ihab M; Abouzeid, Hana; Balmer, Aubin; Gaillard, Marie-Claire; Othenin-Girard, Philippe; Pica, Alessia; Moeckli, Raphaël; Schorderet, Daniel F; Munier, Francis L (2011). Modern cataract surgery for radiation-induced cataracts in retinoblastoma. British journal of ophthalmology, 95(2), pp. 227-30. London: BMJ Publishing Group 10.1136/bjo.2009.173401
Michaelides, Michel; Gaillard, Marie-Claire; Escher, Pascal; Tiab, Leila; Bedell, Matthew; Borruat, François-Xavier; Barthelmes, Daniel; Carmona, Ruben; Zhang, Kang; White, Edward; McClements, Michelle; Robson, Anthony G; Holder, Graham E; Bradshaw, Keith; Hunt, David M; Webster, Andrew R; Moore, Anthony T; Schorderet, Daniel F; Munier, Francis L (2010). The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. Investigative ophthalmology & visual science, 51(9), pp. 4771-4780. Association for Research in Vision and Ophthalmology 10.1167/iovs.09-4561
Schorderet, Daniel F; Escher, Pascal (2009). NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). Human mutation, 30(11), pp. 1475-1485. Wiley-Blackwell 10.1002/humu.21096
Roduit, Raphael; Escher, Pascal; Schorderet, Daniel F (2009). Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX. PLoS ONE, 4(10), e7379. Public Library of Science 10.1371/journal.pone.0007379
Escher, Pascal; Gouras, Peter; Roduit, Raphaël; Tiab, Leila; Bolay, Sylvain; Delarive, Tania; Chen, Shiming; Tsai, Chih-Cheng; Hayashi, Masanori; Zernant, Jana; Merriam, Joanna E; Mermod, Nicolas; Allikmets, Rando; Munier, Francis L; Schorderet, Daniel F (2009). Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. Human mutation, 30(3), pp. 342-351. Wiley-Blackwell 10.1002/humu.20858
Polok, Bozena; Escher, Pascal; Ambresin, Aude; Chouery, Eliane; Bolay, Sylvain; Meunier, Isabelle; Nan, Francis; Hamel, Christian; Munier, Francis L; Thilo, Bernard; Mégarbané, André; Schorderet, Daniel F (2009). Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. American journal of human genetics, 84(2), pp. 259-265. Cell Press 10.1016/j.ajhg.2009.01.006
Yang, Zhenglin; Chen, Yali; Lillo, Concepcion; Chien, Jeremy; Yu, Zhengya; Michaelides, Michel; Klein, Martin; Howes, Kim A; Li, Yang; Kaminoh, Yuuki; Chen, Haoyu; Zhao, Chao; Chen, Yuhong; Al-Sheikh, Youssef Tawfik; Karan, Goutam; Corbeil, Denis; Escher, Pascal; Kamaya, Shin; Li, Chunmei; Johnson, Samantha; ... (2008). Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. Journal of clinical investigation, 118(8), pp. 2908-2916. American Society for Clinical Investigation 10.1172/JCI35891
Escher, Pascal; Cottet, Sandra; Aono, Saichiko; Oohira, Atsuhiko; Schorderet, Daniel F (2008). Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice. Molecular vision, 14, pp. 2126-2135. Emory University
Mataftsi, Asimina; Schorderet, Daniel F; Chachoua, Louisa; Boussalah, Myriam; Nouri, Mohamed T; Barthelmes, Daniel; Borruat, François-Xavier; Munier, Francis L (2007). Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. Investigative ophthalmology & visual science, 48(11), pp. 5160-7. Hagerstown, Md.: Association for Research in Vision and Ophthalmology 10.1167/iovs.06-1013
