Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations
Papon, J F, Perrault, I, Coste, A, Louis, B, Gérard, X, Hanein, S, Fares-Taie, L, Gerber, S, Defoort-Dhellemmes, S, Vojtek, A M, Kaplan, J, Rozet, J M, Escudier, E
Published in Journal of medical genetics (01.12.2010)
Published in Journal of medical genetics (01.12.2010)
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Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
Rousseau, Francis, Bonaventure, Jacky, Legeai-Mallet, Laurence, Pelet, Anna, Rozet, Jean-Michel, Maroteaux, Pierre, Merrer, Martine Le, Munnich, Arnold
Published in Nature (London) (15.09.1994)
Published in Nature (London) (15.09.1994)
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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
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
Published in Nature genetics (01.12.1996)
Published in Nature genetics (01.12.1996)
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X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
Munnich, Arnold, Gil, Roger, Boespflug-Tanguy, Odile, Rozet, Jean-Michel, Bonneau, Dominique, Saugier-Veber, Pascale, Le Merrer, Martine
Published in Nature genetics (01.03.1994)
Published in Nature genetics (01.03.1994)
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A third locus for dominant optic atrophy on chromosome 22q
Barbet, F, Hakiki, S, Orssaud, C, Gerber, S, Perrault, I, Hanein, S, Ducroq, D, Dufier, J-L, Munnich, A, Kaplan, J, Rozet, J-M
Published in Journal of medical genetics (01.01.2005)
Published in Journal of medical genetics (01.01.2005)
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Implication of non-coding PAX6 mutations in aniridia
Plaisancié, Julie, Tarilonte, M., Ramos, P., Jeanton-Scaramouche, C., Gaston, V., Dollfus, H., Aguilera, D., Kaplan, J., Fares-Taie, L., Blanco-Kelly, F., Villaverde, C., Francannet, C., Goldenberg, A., Arroyo, I., Rozet, J. M., Ayuso, C., Chassaing, N., Calvas, P., Corton, M.
Published in Human genetics (01.10.2018)
Published in Human genetics (01.10.2018)
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Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene
Rozet, J-M, Perrault, I, Gigarel, N, Souied, E, Ghazi, I, Gerber, S, Dufier, J-L, Munnich, A, Kaplan, J
Published in Journal of medical genetics (01.04.2002)
Published in Journal of medical genetics (01.04.2002)
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Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis
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
Published in American journal of human genetics (01.04.1999)
Published in American journal of human genetics (01.04.1999)
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Complete Exon–Intron Structure of the Retina-Specific ATP Binding Transporter Gene (ABCR) Allows the Identification of Novel Mutations Underlying Stargardt Disease
Gerber, S., Rozet, J.M., van de Pol, T.J.R., Hoyng, C.B., Munnich, A., Blankenagel, A., Kaplan, J., Cremers, F.P.M.
Published in Genomics (San Diego, Calif.) (15.02.1998)
Published in Genomics (San Diego, Calif.) (15.02.1998)
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A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3
Cabot, Annick, Rozet, Jean-Michel, Gerber, Sylvie, Perrault, Isabelle, Ducroq, Dominique, Smahi, Asmae, Souied, Eric, Munnich, Arnold, Kaplan, Josseline
Published in American journal of human genetics (01.04.1999)
Published in American journal of human genetics (01.04.1999)
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Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele
Perrault, I, Hanein, S, Gerber, S, Barbet, F, Dufier, J-L, Munnich, A, Rozet, J-M, Kaplan, J
Published in Journal of medical genetics (01.07.2003)
Published in Journal of medical genetics (01.07.2003)
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A gene for usher syndrome type I (USH1A) maps to chromosome 14q
Kaplan, J., Gerber, S., Bonneau, D., Rozet, J.M., Delrieu, O., Briard, M.L., Dollfus, H., Ghazi, I., Dufier, J.L., Frézal, J., Munnich, A.
Published in Genomics (San Diego, Calif.) (01.12.1992)
Published in Genomics (San Diego, Calif.) (01.12.1992)
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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: evidence of clinical heterogeneity at this locus
Rozet, Jean-Michet, Gerber, Sylvie, Ghazi, Imad, Perrault, Isabelle, Ducroq, Dominique, Souied, Eric, Cabot, Annick, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline
Published in Journal of medical genetics (01.06.1999)
Published in Journal of medical genetics (01.06.1999)
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A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy
Perrault, Isabelle, Rozet, Jean-Michel, Gerber, Sylvie, Kelsell, Rosemary E., Souied, Eric, Cabot, Annick, Hunt, David M., Munnich, Arnold, Kaplan, Josseline
Published in American journal of human genetics (01.08.1998)
Published in American journal of human genetics (01.08.1998)
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Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13
Camuzat, A, Rozet, J M, Dollfus, H, Gerber, S, Perrault, I, Weissenbach, J, Munnich, A, Kaplan, J
Published in Human genetics (01.06.1996)
Published in Human genetics (01.06.1996)
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ABCR Gene Analysis in Familial Exudative Age-Related Macular Degeneration
Souied, Eric H, Ducroq, Dominique, Rozet, Jean-Michel, Gerber, Sylvie, Perrault, Isabelle, Munnich, Arnold, Coscas, Gabriel, Soubrane, Gisele, Kaplan, Josseline
Published in Investigative ophthalmology & visual science (01.01.2000)
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Published in Investigative ophthalmology & visual science (01.01.2000)
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Complete Abolition of the Retinal-Specific Guanylyl Cyclase (retGC-1) Catalytic Ability Consistently Leads to Leber Congenital Amaurosis (LCA)
Rozet, Jean-Michel, Perrault, Isabelle, Gerber, Sylvie, Hanein, Sylvain, Barbet, Fabienne, Ducroq, Dominique, Souied, Eric, Munnich, Arnold, Kaplan, Josseline
Published in Investigative ophthalmology & visual science (01.05.2001)
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Published in Investigative ophthalmology & visual science (01.05.2001)
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A gene for Stargardt's disease ( fundus flavimaculatus ) maps to the short arm of chromosome 1
Dollfus, Hélène, Briard, Marie-Louise, Munnich, Arnold, Gerber, Sylvie, Frézal, Jean, Rozet, Jean-Michel, Janin, Nicolas, Postel-Vinay, Anne, Kaplan, Josseline, Larget-Piet, Dominique, Dufier, Jean-Louis, Odent, Sylvie
Published in Nature genetics (01.11.1993)
Published in Nature genetics (01.11.1993)
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Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study
Souied, Eric H, Ducroq, Dominique, Gerber, Sylvie, Ghazi, Imad, Rozet, Jean-Michel, Perrault, Isabelle, Munnich, Arnold, Dufier, Jean Louis, Coscas, Gabriel, Soubrane, Gisèle, Kaplan, Josseline
Published in American journal of ophthalmology (01.08.1999)
Published in American journal of ophthalmology (01.08.1999)
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