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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: meunier i. Hum Mol Genet. 2017 Nov 15;26(22):4367-4374. doi: 10.1093/hmg/ddx322. Hum Mol Genet. 2017. PMID: 28973654 Free article.
Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity.
Hamel CP, Meunier I, Arndt C, Ben Salah S, Lopez S, Bazalgette C, Bazalgette C, Zanlonghi X, Arnaud B, Defoort-Dellhemmes S, Puech B. Hamel CP, et al. Among authors: meunier i. Am J Ophthalmol. 2009 Apr;147(4):609-20. doi: 10.1016/j.ajo.2008.10.022. Epub 2009 Feb 1. Am J Ophthalmol. 2009. PMID: 19181301
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I, Nan F, Hamel C, Munier FL, Thilo B, Mégarbané A, Schorderet DF. Polok B, et al. Among authors: meunier i. Am J Hum Genet. 2009 Feb;84(2):259-65. doi: 10.1016/j.ajhg.2009.01.006. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200527 Free PMC article.
150 results