Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecula... von Hanein, Sylvain, Perrault, Isabelle, Gerber, Sylvie, Tanguy, Gaëlle, Barbet, Fabienne, Ducroq, Dominique, Calvas, Patrick, Dollfus, Hélène, Hamel, Christian, Lopponen, Tuija, Munier, Francis, Santos, Louisa, Shalev, Stavit, Zafeiriou, Dimitrios, Dufier, Jean‐Louis, Munnich, Arnold, Rozet, Jean‐Michel, Kaplan, Josseline

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Retinal Dehydrogenase 12 ( RDH12) Mutations in Leber Congenital Amaurosis von Perrault, Isabelle, Hanein, Sylvain, Gerber, Sylvie, Barbet, Fabienne, Ducroq, Dominique, Dollfus, Helene, Hamel, Christian, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel

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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis von Dollfus, Hélène, Calvas, Patrick, Munnich, Arnold, Souied, Eric, Ghazi, Ihmad, Rozet, Jean Michel, Perrault, Isabella, Camuzat, Agnès, Châtelin, Sophie, Paslier, Denis Le, Dufier, Jean-Louis, Gerber, Sylvie, Pittler, Steven, Bonnemaison, Michel, Frézal, Jean, Leowski, Corinne, Kaplan, Josseline

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A third locus for dominant optic atrophy on chromosome 22q von Barbet, F, Hakiki, S, Orssaud, C, Gerber, S, Perrault, I, Hanein, S, Ducroq, D, Dufier, J-L, Munnich, A, Kaplan, J, Rozet, J-M

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Visual function improvement after idebenone therapy in Leber hereditary optic neuropathy von ORSSAUD, C, ROBERT, M, ROCHE, O, DUFIER, JL

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Ophthalmologic findings in suspected child abuse victims with subdural hematomas von Pierre-Kahn, Vincent, Roche, Olivier, Dureau, Pascal, Uteza, Yves, Renier, Dominique, Pierre-Kahn, Alain, Dufier, Jean-Louis

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Screening of visual disorders among high school students without expressed complaint von KOVARSKI, C, CARLU, C, PORTALIER, S, FAUCHER, C, DUFIER, JL, ROCHE, O, ORSSAUD, C

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Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis von Gerber, S, Perrault, I, Hanein, S, Barbet, F, Ducroq, D, Ghazi, I, Martin-Coignard, D, Leowski, C, Homfray, T, Dufier, J L, Munnich, A, Kaplan, J, Rozet, J M

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USH1A: Chronicle of a Slow Death von Gerber, Sylvie, Bonneau, Dominique, Gilbert, Brigitte, Munnich, Arnold, Dufier, Jean-Louis, Rozet, Jean-Michel, Kaplan, Josseline

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Histopathologic risk factors in retinoblastoma: A retrospective study of 172 patients treated in a single institution von Khelfaoui, Fatima, Validire, Pierre, Auperin, Anne, Quintana, Erica, Michon, Jean, Pacquement, Hélène, Desjardins, Laurence, Asselain, Bernard, Schlienger, Pierre, Vielh, Philippe, Dufier, Jean‐Louis, Zucker, Jean‐Michel, Doz, François

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Renal coloboma syndrome von Dureau, Pascal, Attie-Bitach, Tania, Salomon, Rémi, Bettembourg, Olivier, Amiel, Jeanne, Uteza, Yves, Dufier, Jean-Louis

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Homozygous Deletion in the Coding Sequence of the c-mer Gene in RCS Rats Unravels General Mechanisms of Physiological Cell Adhesion and Apoptosis von Nandrot, Emeline, Dufour, Eric M, Provost, Alexandra C, Péquignot, Marie O, Bonnel, Sébastien, Gogat, Karı̈n, Marchant, Dominique, Rouillac, Christelle, Sépulchre de Condé, Bertille, Bihoreau, Marie-Thérèse, Shaver, Cindi, Dufier, Jean-Louis, Marsac, Cécile, Lathrop, Mark, Menasche, Maurice, Abitbol, Marc M

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Leber Congenital Amaurosis von Perrault, Isabelle, Rozet, Jean-Michel, Gerber, Sylvie, Ghazi, Imad, Leowski, Corinne, Ducroq, Dominique, Souied, Eric, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline

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Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene von Rozet, J-M, Perrault, I, Gigarel, N, Souied, E, Ghazi, I, Gerber, S, Dufier, J-L, Munnich, A, Kaplan, J

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Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis von Perrault, Isabelle, Rozet, Jean-Michel, Ghazi, Imad, Leowski, Corinne, Bonnemaison, Michèle, Gerber, Sylvie, Ducroq, Dominique, Cabot, Annick, Souied, Eric, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline

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Spectrum of retGC1 mutations in Leber's congenital amaurosis von Perrault, I, Rozet, J M, Gerber, S, Ghazi, I, Ducroq, D, Souied, E, Leowski, C, Bonnemaison, M, Dufier, J L, Munnich, A, Kaplan, J

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Postural control in children with early strabismus without amblyopia von ORSSAUD, C, GAERTNER, C, CREUX, C, ESPINASSE‐BERROD, MA, ROCHE, O, DUFIER, JL, KAPOULA, Z

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Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies von Rozet, J M, Gerber, S, Souied, E, Perrault, I, Châtelin, S, Ghazi, I, Leowski, C, Dufier, J L, Munnich, A, Kaplan, J

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Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evide... von Rozet, Jean-Michet, Gerber, Sylvie, Ghazi, Imad, Perrault, Isabelle, Ducroq, Dominique, Souied, Eric, Cabot, Annick, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline

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Intravitreous Transplantation of Encapsulated Fibroblasts Secreting the Human Fibroblast Growth Factor 2 Delays Photoreceptor Cell Degeneration in Royal College of Surgeons Rats von Uteza, Yves, Rouillot, Jean-Sébastien, Kobetz, Alexandra, Marchant, Dominique, Pecqueur, Sèverine, Arnaud, Emmanuelle, Prats, Hervé, Honiger, Jiri, Dufier, Jean-Louis, Abitbol, Marc, Neuner-Jehle, Martin

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