The effect of serum matrix and gender on cortisol measurement by commonly used immunoassays von Dodd, AJ, Ducroq, DH, Neale, SM, Wise, MP, Mitchem, KL, Armston, A, Barth, JH, El-Farhan, N, Rees, DA, Evans, C

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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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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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Human cytomegalovirus-infected cells have unstable assembly of major histocompatibility complex class I complexes and are resistant to lysis by cytotoxic T lymphocytes von WARREN, A. P, DUCROQ, D. H, LEHNER, P. J, BORYSIEWICZ, L. K

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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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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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Complete Abolition of the Retinal-Specific Guanylyl Cyclase (retGC-1) Catalytic Ability Consistently Leads to Leber Congenital Amaurosis (LCA) von Rozet, Jean-Michel, Perrault, Isabelle, Gerber, Sylvie, Hanein, Sylvain, Barbet, Fabienne, Ducroq, Dominique, Souied, Eric, Munnich, Arnold, 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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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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Performance of electrolyte assays in the United Kingdom-reference target values von THOMAS, M. A, SMITH, S. C, SALL, S, NEWSAM, A. J, DUCROQ, D. H

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Further Evidence for an Association of ABCR Alleles with Age-Related Macular Degeneration von Allikmets, Rando

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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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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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A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3 von Cabot, Annick, Rozet, Jean-Michel, Gerber, Sylvie, Perrault, Isabelle, Ducroq, Dominique, Smahi, Asmae, Souied, Eric, Munnich, Arnold, Kaplan, Josseline

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A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q von BARBET, Fabienne, GERBER, Sylvie, KAPLAN, Josseline, HAKIKI, Sélim, PERRAULT, Isabelle, HANEIN, Sylvain, DUCROQ, Dominique, TANGUY, Gaëlle, DUFIER, Jean-Louis, MUNNICH, Arnold, ROZET, Jean-Michel

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The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies von Ducroq, Dominique, Rozet, Jean-Michel, Gerber, Sylvie, Perrault, Isabelle, Barbet, Fabienne, Hanein, Sylvain, Hakiki, Selim, Dufier, Jean-Louis, Munnich, Arnold, Hamel, Christian, Kaplan, Josseline

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The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish inquisition von GERBER, Sylvie, ROZET, Jean-Michel, JEANPIERRE, Marc, ROMANA, Serge, FREZAL, Jean, FERRAZ, Fernando, YU-UMESONO, Ruth, MUNNICH, Arnold, KAPLAN, Josseline, TAKEZAWAN, Shin-Ichiro, DOS SANTOS, Luisa Coutinho, LOPES, Lucilia, GRIBOUVAL, Olivier, PENET, Clotilde, PERRAULT, Isabelle, DUCROQ, Dominique, SOUIED, Eric

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Les dystrophies maculaires héréditaires : Rétinopathies pigmentaires von ROZET, J.-M, GERBER, S, DUCROQ, D, HAMEL, C, DUFIER, J.-L, KAPLAN, J

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Les dystrophies maculaires héréditaires von Rozet, J.-M., Gerber, S., Ducroq, D., Hamel, C., Dufier, J.-L., Kaplan, J.

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ABCR Gene Analysis in Familial Exudative Age-Related Macular Degeneration von Souied, Eric H, Ducroq, Dominique, Rozet, Jean-Michel, Gerber, Sylvie, Perrault, Isabelle, Munnich, Arnold, Coscas, Gabriel, Soubrane, Gisele, Kaplan, Josseline

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