Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy
Baris, Olivier, Delettre, Cécile, Amati-Bonneau, Patrizia, Surget, Marie-Odile, Charlin, Jean-François, Catier, Antoine, Derieux, Laurence, Guyomard, Jean-Laurent, Dollfus, Hélène, Jonveaux, Philippe, Ayuso, Carmen, Maumenee, Irene, Lorenz, Birgit, Mohammed, Shehla, Tourmen, Yves, Bonneau, Dominique, Malthièry, Yves, Hamel, Christian, Reynier, Pascal
Published in Human mutation (01.06.2003)
Published in Human mutation (01.06.2003)
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Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Indelman, Margarita, Bergman, Reuven, Ramon, Michal, Sprecher, Eli, Hamel, Christian P., Nischal, Ken K., Thompson, Dorothy, Surget, Marie-Odile, Ganthos, Hatam, Miller, Benjamin, Richard, Gabriele, Lurie, Raziel, Leibu, Rina, Russell-Eggitt, Isabelle
Published in Journal of investigative dermatology (01.11.2003)
Published in Journal of investigative dermatology (01.11.2003)
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Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management
Bocquet, Beatrice, Lacroux, Annie, Surget, Marie-Odile, Baudoin, Corinne, Marquette, Virginie, Manes, Gael, Hebrard, Maxime, Sénéchal, Audrey, Delettre, Cecile, Roux, Anne-Francoise, Claustres, Mireille, Dhaenens, Claire-Marie, Rozet, Jean-Michel, Perrault, Isabelle, Bonnefont, Jean-Paul, Kaplan, Josseline, Dollfus, Helene, Amati-Bonneau, Patrizia, Bonneau, Dominique, Reynier, Pascal, Audo, Isabelle, Zeitz, Christina, Sahel, José Alain, Paquis-Flucklinger, Veronique, Calvas, Patrick, Arveiler, Benoit, Kohl, Suzanne, Wissinger, Bernd, Blanchet, Catherine, Meunier, Isabelle, Hamel, Christian P.
Published in Ophthalmic epidemiology (01.02.2013)
Published in Ophthalmic epidemiology (01.02.2013)
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Screening Genes of the Retinoid Metabolism: Novel LRAT Mutation in Leber Congenital Amaurosis
Sénéchal, Audrey, Humbert, Ghyslaine, Surget, Marie-Odile, Bazalgette, Cécile, Bazalgette, Christian, Arnaud, Bernard, Arndt, Carl, Laurent, Eric, Brabet, Philippe, Hamel, Christian P.
Published in American journal of ophthalmology (01.10.2006)
Published in American journal of ophthalmology (01.10.2006)
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Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin
LAVIGNE-REBILLARD, Mireille, DELPRAT, Benjamin, SURGET, Marie-Odile, GRIFFOIN, Jean-Michel, WEIL, Dominique, ARBONES, Mariona, VINCENT, Robert, HAMEL, Christian P
Published in Neurogenetics (01.04.2003)
Published in Neurogenetics (01.04.2003)
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Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 2 l-year Data Management
BOCQUET, Beatrice, LACROUX, Annie, CLAUSTRES, Mireille, DHAENENS, Claire-Marie, ROZET, Jean-Michel, PERRAULT, Isabelle, BONNEFONT, Jean-Paul, KAPLAN, Josseline, DOLLFUS, Helene, AMATI-BONNEAU, Patrizia, BONNEAU, Dominique, REYNIER, Pascal, SURGET, Marie-Odile, AUDO, Isabelle, ZEITZ, Christina, ALAIN SAHEL, Jose, PAQUIS-FLUCKLINGER, Veronique, CALVAS, Patrick, ARVEILER, Benoit, KOHL, Suzanne, WISSINGER, Bernd, BLANCHET, Catherine, MEUNIER, Isabelle, BAUDOIN, Corinne, HAMEL, Christian P, MARQUETTE, Virginie, MANES, Gael, HEBRARD, Maxime, SENECHAL, Audrey, DELETTRE, Cecile, ROUX, Anne-Francoise
Published in Ophthalmic epidemiology (2013)
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Published in Ophthalmic epidemiology (2013)
Journal Article
Screening Genes of the Retinoid Metabolism: NovelLRATMutation in Leber Congenital Amaurosis
Sénéchal, Audrey, Humbert, Ghyslaine, Surget, Marie-Odile, Bazalgette, Cécile, Bazalgette, Christian, Arnaud, Bernard, Arndt, Carl, Laurent, Eric, Brabet, Philippe, Hamel, Christian P
Published in American journal of ophthalmology (01.10.2006)
Published in American journal of ophthalmology (01.10.2006)
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Journal Article
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy: MUTATIONS IN BRIEF
Baris, Olivier, Delettre, Cécile, Amati-Bonneau, Patrizia, Surget, Marie-Odile, Charlin, Jean-François, Catier, Antoine, Derieux, Laurence, Guyomard, Jean-Laurent, Dollfus, Hélène, Jonveaux, Philippe, Ayuso, Carmen, Maumenee, Irene, Lorenz, Birgit, Mohammed, Shehla, Tourmen, Yves, Bonneau, Dominique, Malthièry, Yves, Hamel, Christian, Reynier, Pascal
Published in Human mutation (01.06.2003)
Published in Human mutation (01.06.2003)
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