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Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz, Christina; Michiels, Christelle; Neuillé, Marion; Friedburg, Christoph; Condroyer, Christel; Boyard, Fiona; Antonio, Aline; Bouzidi, Nassima; Milicevic, Diana; Veaux, Robin; Tourville, Aurore; Zoumba, Axelle; Seneina, Imene; Foussard, Marine; Andrieu, Camille; N Preising, Markus; Blanchard, Steven; Saraiva, Jean-Paul; Mesrob, Lilia; Le Floch, Edith; Jubin, Claire; Meyer, Vincent; Blanché, Hélène; Boland, Anne; Deleuze, Jean-François; Sharon, Dror; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; De Baere, Elfride; Leroy, Bart P; Zanlonghi, Xavier; Casteels, Ingele; de Ravel, Thomy J; Balikova, Irina; Koenekoop, Rob K; Laffargue, Fanny; McLean, Rebecca; Gottlob, Irene; Bonneau, Dominique; Schorderet, Daniel F; L Munier, Francis; McKibbin, Martin; Prescott, Katrina; Pelletier, Valerie; Dollfus, Hélène; Perdomo-Trujillo, Yaumara; Faure, Céline; Reiff, Charlotte; Wissinger, Bernd; Meunier, Isabelle.
Afiliação
  • Zeitz C; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.
  • Michiels C; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.
  • Neuillé M; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.
  • Friedburg C; Department of Ophthalmology, Justus-Liebig-University Giessen, Germany.
  • Condroyer C; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.
  • Boyard F; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.
  • Antonio A; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.
  • Bouzidi N; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France.
  • Milicevic D; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.
  • Veaux R; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.
  • Tourville A; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.
  • Zoumba A; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.
  • Seneina I; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.
  • Foussard M; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.
  • Andrieu C; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.
  • N Preising M; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France.
  • Blanchard S; Department of Ophthalmology, Justus-Liebig-University Giessen, Germany.
  • Saraiva JP; IntegraGen SA, Genopole Campus, Evry, France.
  • Mesrob L; IntegraGen SA, Genopole Campus, Evry, France.
  • Le Floch E; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
  • Jubin C; INSERM, Sorbonne Université, Paris, France.
  • Meyer V; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
  • Blanché H; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
  • Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
  • Deleuze JF; Fondation Jean Dausset-CEPH (Centre d'Etude du Polymorphisme Humain), Paris, France.
  • Sharon D; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
  • Drumare I; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
  • Defoort-Dhellemmes S; Fondation Jean Dausset-CEPH (Centre d'Etude du Polymorphisme Humain), Paris, France.
  • De Baere E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Leroy BP; Service d'Exploration de la Vision et Neuro-ophtalmologie, CHRU de Lille, Lille, France.
  • Zanlonghi X; Service d'Exploration de la Vision et Neuro-ophtalmologie, CHRU de Lille, Lille, France.
  • Casteels I; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • de Ravel TJ; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Balikova I; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Koenekoop RK; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Laffargue F; Clinique Jules Verne, Centre de Compétence Maladies Rares, Nantes, France.
  • McLean R; Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.
  • Gottlob I; Centre for Human Genetics, University Hospitals Leuven, Belgium.
  • Bonneau D; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Schorderet DF; Department of Ophthalmology, Queen Fabiola Children's University Hospital, Brussels, Belgium.
  • L Munier F; Departments of Ophthalmology, Human Genetics, and Pediatric Surgery, Montreal Children's Hospital, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.
  • McKibbin M; Service de Génétique, CHU Clermont-Ferrand, France.
  • Prescott K; Department of Neuroscience, Psychology and Behaviour, Ulverscroft Eye Unit, University of Leicester, Leicester, United Kingdom.
  • Pelletier V; Department of Neuroscience, Psychology and Behaviour, Ulverscroft Eye Unit, University of Leicester, Leicester, United Kingdom.
  • Dollfus H; Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.
  • Perdomo-Trujillo Y; Mitovasc, UMR CNRS 6015-INSERM 1083, Université d'Angers, France.
  • Faure C; Department of Ophthalmology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
  • Reiff C; IRO-Institute for Research in Ophthalmology, Sion, Switzerland.
  • Wissinger B; Faculty of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.
  • Meunier I; Department of Ophthalmology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
Hum Mutat ; 40(6): 765-787, 2019 06.
Article em En | MEDLINE | ID: mdl-30825406
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Cegueira Noturna / Análise de Sequência de DNA / Canais de Cálcio Tipo L / Doenças Genéticas Ligadas ao Cromossomo X / Mutação / Miopia Tipo de estudo: Prognostic_studies Limite: Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: França
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Cegueira Noturna / Análise de Sequência de DNA / Canais de Cálcio Tipo L / Doenças Genéticas Ligadas ao Cromossomo X / Mutação / Miopia Tipo de estudo: Prognostic_studies Limite: Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: França