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Page 1
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G. Angebault C, et al. Among authors: meunier i. Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22. Am J Hum Genet. 2015. PMID: 26593267 Free PMC article.
Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy.
Corradi Z, Dhaenens CM, Grunewald O, Kocabaş IS, Meunier I, Banfi S, Karali M, Cremers FPM, Hitti-Malin RJ. Corradi Z, et al. Among authors: meunier i. Int J Mol Sci. 2024 May 29;25(11):5940. doi: 10.3390/ijms25115940. Int J Mol Sci. 2024. PMID: 38892127 Free PMC article.
Atypical Foveal Hypoplasia in Best Disease.
Moret E, Lejoyeux R, Bonnin S, Azar G, Guillaume J, Le Cossec C, Lafolie J, Alonso AS, Favard C, Meunier I, Vasseur V, Mauget-Faÿsse M. Moret E, et al. Among authors: meunier i. J Pers Med. 2023 Feb 15;13(2):337. doi: 10.3390/jpm13020337. J Pers Med. 2023. PMID: 36836571 Free PMC article.
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.
Geada S, Teixeira-Marques F, Teixeira B, Carvalho AL, Lousan N, Saraiva J, Murta J, Silva R, Zanlonghi X, Defoort-Dhellemmes S, Smirnov V, Dhaenens CM, Blanchet C, Meunier I, Marques JP. Geada S, et al. Among authors: meunier i. Genes (Basel). 2023 Mar 30;14(4):830. doi: 10.3390/genes14040830. Genes (Basel). 2023. PMID: 37107588 Free PMC 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