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Escher, Pascal; Passarin, Olga; Munier, Francis L; Tran, Viet H; Vaclavik, Veronika (2018). Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions. Ophthalmic genetics, 39(1), pp. 80-86. Taylor & Francis 10.1080/13816810.2017.1393825
Escher, Pascal; Vaclavik, Veronika; Munier, Francis L; Tran, H Viet (2016). Presence of a Triple Concentric Autofluorescence Ring in NR2E3-p.G56R-Linked Autosomal Dominant Retinitis Pigmentosa (ADRP). Investigative ophthalmology & visual science, 57(4), pp. 2001-2002. Association for Research in Vision and Ophthalmology 10.1167/iovs.16-19459
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
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
Pica, Alessia; Moeckli, Raphael; Balmer, Aubin; Beck-Popovic, Maja; Chollet-Rivier, Madeleine; Do, Huu-Phuoc; Weber, Damien C; Munier, Francis L (2011). Preliminary Experience in Treatment of Papillary and Macular Retinoblastoma: Evaluation of Local Control and Local Complications After Treatment with Linear Accelerator-Based Stereotactic Radiotherapy with Micromultileaf Collimator as Second-Line or Salvage Treatment after chemotherapy. International journal of radiation oncology, biology, physics, 81(5), pp. 1380-6. New York, N.Y.: Elsevier 10.1016/j.ijrobp.2010.07.033
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
Chhablani, Jay; Romanzo, Antonio; Balmer, Aubin; Pica, Alessia; Gaillard, Marie-Claire; Cozza, Raffaele; Moeckli, Raphaël; Munier, Francis L (2010). (106)Ruthenium brachytherapy for ciliary recurrence with supraciliary effusion in retinoblastoma. Ophthalmic genetics, 31(4), pp. 190-2. London: Informa Healthcare 10.3109/13816810.2010.499888
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
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
