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	1.	[Leber congenital amaurosis: retinol dehydrogenases are the culprit]. [electronic resource] by Perrault, Isabelle Hanein, Sylvain Kaplan, Josseline Producer: 20050517 In: Medecine sciences : M/S vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy]. [electronic resource] by Kaplan, Josseline Perrault, Isabelle Hanein, Sylvain Dollfus, Hélène Rozet, Jean-Michel Producer: 20130401 In: Medecine sciences : M/S vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA. [electronic resource] by Hanein, Sylvain Perrault, Isabelle Gerber, Sylvie Tanguy, Gaëlle Rozet, Jean-Michel Kaplan, Josseline Producer: 20070409 In: Advances in experimental medicine and biology vol. 572 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Nuclear outsourcing of RNA interference components to human mitochondria. [electronic resource] by Bandiera, Simonetta Rüberg, Silvia Girard, Muriel Cagnard, Nicolas Hanein, Sylvain Chrétien, Dominique Munnich, Arnold Lyonnet, Stanislas Henrion-Caude, Alexandra Producer: 20111102 In: PloS one vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2). [electronic resource] by Porto, Fernanda B O Perrault, Isabelle Hicks, David Rozet, Jean-Michel Hanoteau, Noëlle Hanein, Sylvain Kaplan, Josseline Sahel, José A Producer: 20040804 In: Advances in experimental medicine and biology vol. 533 Availability: No items available. Save to lists Add to cart (remove)
	6.	Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial. [electronic resource] by Perrault, Isabelle Gerber, Sylvie Hanein, Sylvain Picaud, Serge Rozet, Jean-Michel Dufier, Jean-Louis Munnich, Arnold Sahel, José Kaplan, Josseline Producer: 20040804 In: Advances in experimental medicine and biology vol. 533 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2). [electronic resource] by Porto, Fernanda B O Perrault, Isabelle Hicks, David Rozet, Jean-Michel Hanoteau, Noëlle Hanein, Sylvain Kaplan, Josseline Sahel, José Alain Producer: 20030116 In: The journal of gene medicine vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. [electronic resource] by Gerber, Sylvie Perrault, Isabelle Hanein, Sylvain Shalev, Stavit Zlotogora, Joel Barbet, Fabienne Ducroq, Dominique Dufier, Jean Munnich, Arnold Rozet, Jean Kaplan, Josseline Producer: 20030418 In: Ophthalmic genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	NDP gene mutations in 14 French families with Norrie disease. [electronic resource] by Royer, Ghislaine Hanein, Sylvain Raclin, Valérie Gigarel, Nadine Rozet, Jean-Michel Munnich, Arnold Steffann, Julie Dufier, Jean-Louis Kaplan, Josseline Bonnefont, Jean-Paul Producer: 20040126 In: Human mutation vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22. [electronic resource] by Barbet, Fabienne Gerber, Sylvie Hakiki, Sélim Perrault, Isabelle Hanein, Sylvain Ducroq, Dominique Tanguy, Gaëlle Dufier, Jean-Louis Munnich, Arnold Kaplan, Josseline Rozet, Jean-Michel Producer: 20070409 In: Advances in experimental medicine and biology vol. 572 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. [electronic resource] by Gerber, Sylvie Hanein, Sylvain Perrault, Isabelle Delphin, Nathalie Aboussair, Nisrine Leowski, Corinne Dufier, Jean-Louis Roche, Olivier Munnich, Arnold Kaplan, Josseline Rozet, Jean-Michel Producer: 20080128 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. [electronic resource] by Perrault, Isabelle Hanein, Sylvain Gerber, Sylvie Barbet, Fabienne Ducroq, Dominique Dollfus, Helene Hamel, Christian Dufier, Jean-Louis Munnich, Arnold Kaplan, Josseline Rozet, Jean-Michel Producer: 20041216 In: American journal of human genetics vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype. [electronic resource] by Perrault, Isabelle Hanein, Sylvain Gerber, Sylvie Lebail, Beatrice Vlajnik, Patrice Barbet, Fabienne Ducroq, Dominique Dufier, Jean-Louis Munnich, Arnold Kaplan, Josseline Rozet, Jean-Michel Producer: 20060314 In: Human mutation vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	The ABCA4 gene in autosomal recessive cone-rod dystrophies. [electronic resource] by Ducroq, Dominique Rozet, Jean-Michel Gerber, Sylvie Perrault, Isabelle Barbet, Dabienne Hanein, Sylvain Hakiki, Selim Dufier, Jean-Louis Munnich, Arnold Hamel, Christian Kaplan, Josseline Producer: 20030123 In: American journal of human genetics vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q. [electronic resource] by Barbet, Fabienne Gerber, Sylvie Hakiki, Sélim Perrault, Isabelle Hanein, Sylvain Ducroq, Dominique Tanguy, Gaëlle Dufier, Jean-Louis Munnich, Arnold Rozet, Jean-Michel Kaplan, Josseline Producer: 20040819 In: European journal of human genetics : EJHG vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. [electronic resource] by Hanein, Sylvain Dürr, Alexandra Ribai, Pascale Forlani, Sylvie Leutenegger, Anne-Louise Nelson, Isabelle Babron, Marie-Claude Elleuch, Nizar Depienne, Christel Charon, Céline Brice, Alexis Stevanin, Giovanni Producer: 20080402 In: Human genetics vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation. [electronic resource] by Gerard, Xavier Perrault, Isabelle Hanein, Sylvain Silva, Eduardo Bigot, Karine Defoort-Delhemmes, Sabine Rio, Marlèene Munnich, Arnold Scherman, Daniel Kaplan, Josseline Kichler, Antoine Rozet, Jean-Michel Producer: 20130125 In: Molecular therapy. Nucleic acids vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. [electronic resource] by Hanein, Sylvain Perrault, Isabelle Olsen, Päivi Lopponen, Tuija Hietala, Marja Gerber, Sylvie Jeanpierre, Marc Barbet, Fabienne Ducroq, Dominique Hakiki, Sélim Munnich, Arnold Rozet, Jean-Michel Kaplan, Josseline Producer: 20030103 In: Human mutation vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. [electronic resource] by Perrault, Isabelle Delphin, Nathalie Hanein, Sylvain Gerber, Sylvie Dufier, Jean-Louis Roche, Olivier Defoort-Dhellemmes, Sabine Dollfus, Hélène Fazzi, Elisa Munnich, Arnold Kaplan, Josseline Rozet, Jean-Michel Producer: 20070501 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA. [electronic resource] by Hanein, Sylvain Perrault, Isabelle Gerber, Sylvie Dollfus, Hélène Dufier, Jean-Louis Feingold, Josué Munnich, Arnold Bhattacharya, Shomi Kaplan, Josseline Sahel, José-Alain Rozet, Jean-Michel Leveillard, Thierry Producer: 20070409 In: Advances in experimental medicine and biology vol. 572 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 35 results.