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Choroideremia: towards a therapy.
Kalatzis V, Hamel CP, MacDonald IM; First International Choroideremia Research Symposium. Kalatzis V, et al. Among authors: hamel cp. Am J Ophthalmol. 2013 Sep;156(3):433-437.e3. doi: 10.1016/j.ajo.2013.05.009. Epub 2013 Jun 28. Am J Ophthalmol. 2013. PMID: 23810476
Clinical Evaluation and Cone Alterations in Choroideremia.
Nabholz N, Lorenzini MC, Bocquet B, Lacroux A, Faugère V, Roux AF, Kalatzis V, Meunier I, Hamel CP. Nabholz N, et al. Among authors: hamel cp. Ophthalmology. 2016 Aug;123(8):1830-1832. doi: 10.1016/j.ophtha.2016.02.025. Epub 2016 Mar 15. Ophthalmology. 2016. PMID: 26992839 No abstract available.
Mutations in IMPG1 cause vitelliform macular dystrophies.
Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, Ayuso García C, Hamel CP. Manes G, et al. Among authors: hamel cp. Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993198 Free PMC article.
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.
Manes G, Joly W, Guignard T, Smirnov V, Berthemy S, Bocquet B, Audo I, Zeitz C, Sahel J, Cazevieille C, Sénéchal A, Deleuze JF, Blanché-Koch H, Boland A, Carroll P, Geneviève D, Zanlonghi X, Arndt C, Hamel CP, Defoort-Dhellemmes S, Meunier I. Manes G, et al. Among authors: hamel cp. Hum Mol Genet. 2017 Nov 15;26(22):4367-4374. doi: 10.1093/hmg/ddx322. Hum Mol Genet. 2017. PMID: 28973654 Free article.
128 results