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Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families.
Hebrard M, Manes G, Bocquet B, Meunier I, Coustes-Chazalette D, Hérald E, Sénéchal A, Bolland-Augé A, Zelenika D, Hamel CP. Hebrard M, et al. Among authors: senechal a. Eur J Hum Genet. 2011 Dec;19(12):1256-63. doi: 10.1038/ejhg.2011.133. Epub 2011 Jul 27. Eur J Hum Genet. 2011. PMID: 21792230 Free PMC article.
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier JL, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot MC, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens CM, Hamel CP. Manes G, et al. Among authors: senechal a. Am J Ophthalmol. 2015 Feb;159(2):302-14. doi: 10.1016/j.ajo.2014.10.033. Epub 2014 Nov 5. Am J Ophthalmol. 2015. PMID: 25447119 Free article.
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G. Olivier G, et al. Among authors: senechal a. J Med Genet. 2021 Aug;58(8):570-578. doi: 10.1136/jmedgenet-2020-107150. Epub 2020 Aug 17. J Med Genet. 2021. PMID: 32817297
85 results