المؤلفون: 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.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France., Bouzidi N; INSERM, CNRS, Institut de la Vision, Sorbonne Université, 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; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France., N Preising M; Department of Ophthalmology, Justus-Liebig-University Giessen, Germany., Blanchard S; IntegraGen SA, Genopole Campus, Evry, France., Saraiva JP; IntegraGen SA, Genopole Campus, Evry, France., Mesrob L; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.; INSERM, Sorbonne Université, Paris, 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; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Meyer V; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Blanché H; Fondation Jean Dausset-CEPH (Centre d'Etude du Polymorphisme Humain), Paris, France., Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.; Fondation Jean Dausset-CEPH (Centre d'Etude du Polymorphisme Humain), Paris, France., Sharon D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Drumare I; Service d'Exploration de la Vision et Neuro-ophtalmologie, CHRU de Lille, Lille, France., Defoort-Dhellemmes S; Service d'Exploration de la Vision et Neuro-ophtalmologie, CHRU de Lille, Lille, France., De Baere E; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., Leroy BP; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Zanlonghi X; Clinique Jules Verne, Centre de Compétence Maladies Rares, Nantes, France., Casteels I; Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium., de Ravel TJ; Centre for Human Genetics, University Hospitals Leuven, Belgium., Balikova I; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.; Department of Ophthalmology, Queen Fabiola Children's University Hospital, Brussels, Belgium., Koenekoop RK; Departments of Ophthalmology, Human Genetics, and Pediatric Surgery, Montreal Children's Hospital, McGill University Health Centre, McGill University, Montreal, Quebec, Canada., Laffargue F; Service de Génétique, CHU Clermont-Ferrand, France., McLean R; Department of Neuroscience, Psychology and Behaviour, Ulverscroft Eye Unit, University of Leicester, Leicester, United Kingdom., Gottlob I; Department of Neuroscience, Psychology and Behaviour, Ulverscroft Eye Unit, University of Leicester, Leicester, United Kingdom., Bonneau D; Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.; Mitovasc, UMR CNRS 6015-INSERM 1083, Université d'Angers, France., Schorderet DF; Department of Ophthalmology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.; IRO-Institute for Research in Ophthalmology, Sion, Switzerland.; Faculty of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., L Munier F; Department of Ophthalmology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland., McKibbin M; Department of Ophthalmology, St. James's University Hospital, Leeds, United Kingdom., Prescott K; Department of Clinical Genetics, Leeds, United Kingdom., Pelletier V; Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil, Strasbourg, France.; Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France., Dollfus H; Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil, Strasbourg, France.; Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.; Laboratoire de Génétique Médicale, INSERM U1112, Strasbourg, France., Perdomo-Trujillo Y; Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil, Strasbourg, France., Faure C; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France.; Hôpital Privé Saint Martin, Ramsay Générale de Santé, Caen, France., Reiff C; Medical Practice Stadttheater, Freiburg, Germany., Wissinger B; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Meunier I; Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, Montpellier, France.; Institute for Neurosciences of Montpellier, Montpellier University and INSERM U1051, Montpellier, France., Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Banin E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Zrenner E; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Werner Reichardt Center for Integrative Neuroscience, University of Tübingen, Tübingen, Germany., Jurklies B; Department of Ophthalmology, University of Essen, Essen, Germany., Lorenz B; Department of Ophthalmology, Justus-Liebig-University Giessen, Germany., Sahel JA; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France.; Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.; Academie des Sciences, Institut de France, Paris, France.; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania., Audo I; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France.; Institute of Ophthalmology, University College of London, London, United Kingdom.

المصدر: Human mutation [Hum Mutat] 2019 Jun; Vol. 40 (6), pp. 765-787. Date of Electronic Publication: 2019 Mar 28.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Calcium Channels, L-Type/*genetics , Eye Diseases, Hereditary/*genetics , Genetic Diseases, X-Linked/*genetics , Myopia/*genetics , Night Blindness/*genetics , Sequence Analysis, DNA/*methods, Genetic Predisposition to Disease ; Hemizygote ; Humans ; Introns ; Male ; Pedigree ; RNA Splicing ; Silent Mutation

SCR Disease Name: Night blindness, congenital stationary

المؤلفون: Yauy K; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France., Tran Mau-Them F; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France.; Unité Inserm, U1183, Hôpital Saint-Eloi, CHU de Montpellier, Montpellier, France., Willems M; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France., Coubes C; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France., Blanchet P; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France., Herlin C; Unité de Chirurgie Orthopédique et Plastique Infantile, Hôpital Lapeyronie, CHU de Montpellier, Montpellier, France., Taleb Arrada I; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France.; Service de Radiopédiatrie, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France., Sanchez E; Unité Inserm, U1183, Hôpital Saint-Eloi, CHU de Montpellier, Montpellier, France., Faure JM; Service de Gynécologie-Obstétrique et Centre Pluridisciplinaire de Diagnostic Prénatal, CHU Arnaud de Villeneuve, Montpellier, France., Le Gac MP; Service de Gynécologie-Obstétrique et Centre Pluridisciplinaire de Diagnostic Prénatal, CHU de Nîmes, Nîmes, France., Prodhomme O; Service de Radiopédiatrie, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France., Boland A; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France., Meyer V; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France., Rivière JB; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, CHU Dijon, Dijon, France., Duffourd Y; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, CHU Dijon, Dijon, France., Deleuze JF; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France., Guignard T; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France., Captier G; Unité de Chirurgie Orthopédique et Plastique Infantile, Hôpital Lapeyronie, CHU de Montpellier, Montpellier, France., Barat-Houari M; Laboratoire de Génétique des Maladies Rares et Auto-inflammatoires, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France., Genevieve D; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France.; Unité Inserm, U1183, Hôpital Saint-Eloi, CHU de Montpellier, Montpellier, France.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Feb; Vol. 20 (2), pp. 269-274. Date of Electronic Publication: 2017 Aug 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies* , Genetic Predisposition to Disease* , Mutation*, Bone and Bones/*abnormalities , Bone and Bones/*metabolism , Craniosynostoses/*diagnosis , Craniosynostoses/*genetics , Glucuronosyltransferase/*genetics, Bone and Bones/pathology ; Diagnosis, Differential ; Humans ; Phenotype ; Sequence Analysis, DNA ; Skull/abnormalities ; Skull/diagnostic imaging ; Syndrome ; Ultrasonography, Prenatal ; Whole Genome Sequencing

المؤلفون: Bruel AL; Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.; FHU-TRANSLAD, Université de Bourgogne/CHU, Dijon, France., Bigoni S; Department of Reproduction and Growth, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy.; Department of Medical Science, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy., Kennedy J; Clinical Genetics Department, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Bristol, UK.; University of Bristol, Glasgow, UK., Whiteford M; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, UK., Buxton C; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Parmeggiani G; Department of Reproduction and Growth, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy.; Department of Medical Science, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy., Wherlock M; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Woodward G; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Greenslade M; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Williams M; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., St-Onge J; Department of Human Genetics, McGill University Health Centre, Montreal, Canada., Ferlini A; Department of Reproduction and Growth, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy.; Department of Medical Science, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy., Garani G; Department of Reproduction and Growth, Neonatal Intensive Care Unit, University Hospital St Anna, Ferrara, Italy., Ballardini E; Department of Reproduction and Growth, Neonatal Intensive Care Unit, University Hospital St Anna, Ferrara, Italy., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Acuna-Hidalgo R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Bohring A; Institute of Human Genetics, Westfälische Wilhelms-Universität Münster, Münster, Germany., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Évry, France., Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Évry, France., Meyer V; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Évry, France., Olaso R; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Évry, France., Ginglinger E; Service de Génétique, Centre Hospitalier de Mulhouse, Mulhouse, Alsace, France., Study D; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Cambridge, UK., Rivière JB; Department of Human Genetics, McGill University Health Centre, Montreal, Canada., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Newbury-Ecob R; Clinical Genetics Department, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Bristol, UK.; University of Bristol, Glasgow, UK., Faivre L; Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.; FHU-TRANSLAD, Université de Bourgogne/CHU, Dijon, France., Thauvin-Robinet C; Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.; FHU-TRANSLAD, Université de Bourgogne/CHU, Dijon, France., Thevenon J; Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.; FHU-TRANSLAD, Université de Bourgogne/CHU, Dijon, France.; Centre de Génétique, Hôpital Couple Enfant, CHU de Grenoble Alpes, La Tronche, France.

المصدر: Journal of medical genetics [J Med Genet] 2017 Dec; Vol. 54 (12), pp. 830-835. Date of Electronic Publication: 2017 Oct 26.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Recessive* , Mutation* , Phenotype*, Autoantigens/*genetics , Craniosynostoses/*diagnosis , Craniosynostoses/*genetics , Intellectual Disability/*diagnosis , Intellectual Disability/*genetics, Brain/abnormalities ; Brain/diagnostic imaging ; Child, Preschool ; Facies ; Female ; Genetic Association Studies ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Young Adult

SCR Disease Name: Bohring syndrome

المؤلفون: Letouzé E; INSERM, UMR-1162, Génomique Fonctionnelle des Tumeurs Solides, Equipe Labellisée Ligue Contre le Cancer, Institut Universitaire d'Hématologie, Paris, 75010, France. eric.letouze@inserm.fr.; Université Paris Descartes, Labex Immuno-Oncology, Sorbonne Paris Cité, Faculté de Médecine, Paris, 75006, France. eric.letouze@inserm.fr.; Université Paris 13, Sorbonne Paris Cité, Unité de Formation et de Recherche Santé, Médecine, Biologie Humaine, Bobigny, 93000, France. eric.letouze@inserm.fr.; Université Paris Diderot, Paris, 75013, France. eric.letouze@inserm.fr., Shinde J; INSERM, UMR-1162, Génomique Fonctionnelle des Tumeurs Solides, Equipe Labellisée Ligue Contre le Cancer, Institut Universitaire d'Hématologie, Paris, 75010, France.; Université Paris Descartes, Labex Immuno-Oncology, Sorbonne Paris Cité, Faculté de Médecine, Paris, 75006, France.; Université Paris 13, Sorbonne Paris Cité, Unité de Formation et de Recherche Santé, Médecine, Biologie Humaine, Bobigny, 93000, France.; Université Paris Diderot, Paris, 75013, France., Renault V; Laboratory for Bioinformatics, Fondation Jean Dausset-CEPH, Paris, 75010, France., Couchy G; INSERM, UMR-1162, Génomique Fonctionnelle des Tumeurs Solides, Equipe Labellisée Ligue Contre le Cancer, Institut Universitaire d'Hématologie, Paris, 75010, France.; Université Paris Descartes, Labex Immuno-Oncology, Sorbonne Paris Cité, Faculté de Médecine, Paris, 75006, France.; Université Paris 13, Sorbonne Paris Cité, Unité de Formation et de Recherche Santé, Médecine, Biologie Humaine, Bobigny, 93000, France.; Université Paris Diderot, Paris, 75013, France., Blanc JF; Université Bordeaux, Bordeaux Research in Translational Oncology, Bordeaux, 33000, France.; Service Hépato-Gastroentérologie et Oncologie Digestive, Centre Medico-Chirurgical Magellan, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, 33000, France., Tubacher E; Laboratory for Bioinformatics, Fondation Jean Dausset-CEPH, Paris, 75010, France., Bayard Q; INSERM, UMR-1162, Génomique Fonctionnelle des Tumeurs Solides, Equipe Labellisée Ligue Contre le Cancer, Institut Universitaire d'Hématologie, Paris, 75010, France.; Université Paris Descartes, Labex Immuno-Oncology, Sorbonne Paris Cité, Faculté de Médecine, Paris, 75006, France.; Université Paris 13, Sorbonne Paris Cité, Unité de Formation et de Recherche Santé, Médecine, Biologie Humaine, Bobigny, 93000, France.; Université Paris Diderot, Paris, 75013, France., Bacq D; Centre National de Recherche en Génomique Humaine, CEA, Evry, 91000, France., Meyer V; Centre National de Recherche en Génomique Humaine, CEA, Evry, 91000, France., Semhoun J; Laboratory for Bioinformatics, Fondation Jean Dausset-CEPH, Paris, 75010, France., Bioulac-Sage P; Université Bordeaux, Bordeaux Research in Translational Oncology, Bordeaux, 33000, France.; Service de Pathologie, Hôpital Pellegrin, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, 33000, France., Prévôt S; AP-HP, Hôpital Antoine-Béclère, Service d'anatomie pathologique, Clamart, 92140, France., Azoulay D; Université Paris Est Créteil, Créteil, 94010, France.; AP-HP, Groupe Hospitalier Henri Mondor, Département de Chirurgie Hépato-Biliaire et Transplantation Hépatique, Créteil, 94010, France., Paradis V; Service d'Anatomopathologie, Hôpital Beaujon, Clichy, 92110, France., Imbeaud S; INSERM, UMR-1162, Génomique Fonctionnelle des Tumeurs Solides, Equipe Labellisée Ligue Contre le Cancer, Institut Universitaire d'Hématologie, Paris, 75010, France.; Université Paris Descartes, Labex Immuno-Oncology, Sorbonne Paris Cité, Faculté de Médecine, Paris, 75006, France.; Université Paris 13, Sorbonne Paris Cité, Unité de Formation et de Recherche Santé, Médecine, Biologie Humaine, Bobigny, 93000, France.; Université Paris Diderot, Paris, 75013, France., Deleuze JF; Centre National de Recherche en Génomique Humaine, CEA, Evry, 91000, France., Zucman-Rossi J; INSERM, UMR-1162, Génomique Fonctionnelle des Tumeurs Solides, Equipe Labellisée Ligue Contre le Cancer, Institut Universitaire d'Hématologie, Paris, 75010, France. jessica.zucman-rossi@inserm.fr.; Université Paris Descartes, Labex Immuno-Oncology, Sorbonne Paris Cité, Faculté de Médecine, Paris, 75006, France. jessica.zucman-rossi@inserm.fr.; Université Paris 13, Sorbonne Paris Cité, Unité de Formation et de Recherche Santé, Médecine, Biologie Humaine, Bobigny, 93000, France. jessica.zucman-rossi@inserm.fr.; Université Paris Diderot, Paris, 75013, France. jessica.zucman-rossi@inserm.fr.; Assistance Publique-Hôpitaux de Paris, Hopital Europeen Georges Pompidou, Paris, 75015, France. jessica.zucman-rossi@inserm.fr.

المصدر: Nature communications [Nat Commun] 2017 Nov 03; Vol. 8 (1), pp. 1315. Date of Electronic Publication: 2017 Nov 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Carcinogenesis/*genetics , Carcinoma, Hepatocellular/*genetics , Liver Neoplasms/*genetics, Carcinoma, Hepatocellular/etiology ; Chromosome Duplication ; DNA Mutational Analysis ; DNA Replication ; Evolution, Molecular ; Female ; Gene Dosage ; Gene Rearrangement ; Genome, Human ; Humans ; INDEL Mutation ; Liver Neoplasms/etiology ; Male ; Risk Factors ; Transcription, Genetic ; Whole Genome Sequencing

المؤلفون: Le Guennec K; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Nicolas G; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Quenez O; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Charbonnier C; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Wallon D; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Bellenguez C; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Grenier-Boley B; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Rousseau S; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Richard AC; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Rovelet-Lecrux A; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Bacq D; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Garnier JG; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Olaso R; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Boland A; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Meyer V; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Deleuze JF; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Amouyel P; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Munter HM; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Bourque G; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Lathrop M; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Frebourg T; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Redon R; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Letenneur L; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Dartigues JF; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Pasquier F; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Rollin-Sillaire A; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Génin E; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Lambert JC; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Hannequin D; From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France., Campion D

مؤلفون مشاركون: CNR-MAJ collaborators

المصدر: Neurology [Neurology] 2016 Jun 07; Vol. 86 (23), pp. 2134-7. Date of Electronic Publication: 2016 Apr 01.

نوع المنشور: Journal Article; Meta-Analysis

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Mutation*, ATP-Binding Cassette Transporters/*genetics , Alzheimer Disease/*genetics, Aged ; Belgium ; Case-Control Studies ; Exome ; France ; Gene Frequency ; Genetic Association Studies ; Humans

المؤلفون: Merlevede J; INSERM U1170, Gustave Roussy, 114, rue Edouard Vaillant, 94805 Villejuif, France.; Department of Hematology, Gustave Roussy Cancer Center, 114, rue Edouard Vaillant, 94805 Villejuif, France., Droin N; INSERM U1170, Gustave Roussy, 114, rue Edouard Vaillant, 94805 Villejuif, France.; Department of Hematology, Gustave Roussy Cancer Center, 114, rue Edouard Vaillant, 94805 Villejuif, France.; INSERM US23, CNRS UMS3655, Gustave Roussy, 114, rue Edouard Vaillant, 94805 Villejuif, France., Qin T; Department of Pathology, University of Michigan Medical School, 1500 E Medical Center Dr, Ann Arbor, Michigan 48109, USA., Meldi K; Department of Pathology, University of Michigan Medical School, 1500 E Medical Center Dr, Ann Arbor, Michigan 48109, USA., Yoshida K; Department of Pathology and Tumour Biology, Kyoto University, Yoshida-Konoe-cho, Sakyo-ku, Kyoto 606-8501, Japan., Morabito M; INSERM U1170, Gustave Roussy, 114, rue Edouard Vaillant, 94805 Villejuif, France.; Department of Hematology, Gustave Roussy Cancer Center, 114, rue Edouard Vaillant, 94805 Villejuif, France., Chautard E; Université Lyon 1, UMR CNRS 5558, Université Claude Bernard, 16 rue Raphael Dubois, Lyon 69100, France., Auboeuf D; Centre Léon Bérard, INSERM U1052, CNRS UMR5286, 8 Prom. Léa et Napoléon Bullukian, 69008 Lyon, France., Fenaux P; Department of Hematology, Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, 1 Avenue Claude Vellefaux, 75010 Paris, France., Braun T; Department of Hematology, Assistance Publique-Hôpitaux de Paris, Hôpital Avicenne, 125 Rue de Stalingrad, 93000 Bobigny, France., Itzykson R; Department of Hematology, Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, 1 Avenue Claude Vellefaux, 75010 Paris, France., de Botton S; INSERM U1170, Gustave Roussy, 114, rue Edouard Vaillant, 94805 Villejuif, France.; Department of Hematology, Gustave Roussy Cancer Center, 114, rue Edouard Vaillant, 94805 Villejuif, France., Quesnel B; Cancer Research Institute de Lille, INSERM U837, 1 Place de Verdun, 59000 Lille, France., Commes T; Institut de médecine régénératrice, Biothérapie et Institut de biologie computationnelle, INSERM U1040, Université de Montpellier, 80 avenue Augustin Fliche. 34295 Montpellier, France., Jourdan E; Department of Hematology, Centre Hospitalier Universitaire de Nîmes, Université Montpellier-Nîmes, 4 Rue du Professeur Robert Debré, 30029 Nîmes, France., Vainchenker W; INSERM U1170, Gustave Roussy, 114, rue Edouard Vaillant, 94805 Villejuif, France.; Department of Hematology, Gustave Roussy Cancer Center, 114, rue Edouard Vaillant, 94805 Villejuif, France., Bernard O; INSERM U1170, Gustave Roussy, 114, rue Edouard Vaillant, 94805 Villejuif, France.; Department of Hematology, Gustave Roussy Cancer Center, 114, rue Edouard Vaillant, 94805 Villejuif, France., Pata-Merci N; INSERM US23, CNRS UMS3655, Gustave Roussy, 114, rue Edouard Vaillant, 94805 Villejuif, France., Solier S; INSERM U1170, Gustave Roussy, 114, rue Edouard Vaillant, 94805 Villejuif, France.; Department of Hematology, Gustave Roussy Cancer Center, 114, rue Edouard Vaillant, 94805 Villejuif, France., Gayevskiy V; Laboratory of Genome Informatics, Kinghor Center for Clinical Genomics, Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst New South Wales 2010, Australia., Dinger ME; Laboratory of Genome Informatics, Kinghor Center for Clinical Genomics, Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst New South Wales 2010, Australia., Cowley MJ; Laboratory of Genome Informatics, Kinghor Center for Clinical Genomics, Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst New South Wales 2010, Australia., Selimoglu-Buet D; INSERM U1170, Gustave Roussy, 114, rue Edouard Vaillant, 94805 Villejuif, France.; Department of Hematology, Gustave Roussy Cancer Center, 114, rue Edouard Vaillant, 94805 Villejuif, France., Meyer V; Centre National de Génotypage, 2 rue Gaston Crémieux CP 5721, 91 057 Evry, France., Artiguenave F; Centre National de Génotypage, 2 rue Gaston Crémieux CP 5721, 91 057 Evry, France., Deleuze JF; Centre National de Génotypage, 2 rue Gaston Crémieux CP 5721, 91 057 Evry, France., Preudhomme C; Cancer Research Institute de Lille, INSERM U837, 1 Place de Verdun, 59000 Lille, France., Stratton MR; Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK., Alexandrov LB; Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.; Theoretical Biology and Biophysics, Los Alamos National Laboratory, P.O. Box 1663, Los Alamos, New Mexico 87545, USA.; Center for Nonlinear Studies, Los Alamos National Laboratory, P.O. Box 1663, Los Alamos, New Mexico 87545, USA., Padron E; Department of Hematology, Malignant hematology, H. Lee Moffitt Cancer Center, 12902 USF Magnolia Drive, Tampa, Florida 33612, USA., Ogawa S; Department of Pathology and Tumour Biology, Kyoto University, Yoshida-Konoe-cho, Sakyo-ku, Kyoto 606-8501, Japan., Koscielny S; Department of Biostatistics, Gustave Roussy Cancer Center, 114 rue Edouard Vaillant, 94805 Villejuif, France., Figueroa M; Department of Pathology, University of Michigan Medical School, 1500 E Medical Center Dr, Ann Arbor, Michigan 48109, USA., Solary E; INSERM U1170, Gustave Roussy, 114, rue Edouard Vaillant, 94805 Villejuif, France.; Department of Hematology, Gustave Roussy Cancer Center, 114, rue Edouard Vaillant, 94805 Villejuif, France.; Department of Hematology, Faculty of Medicine, University Paris-Sud, 63 Rue Gabriel Péri, 94270 Le Kremlin-Bicêtre, France.

المصدر: Nature communications [Nat Commun] 2016 Feb 24; Vol. 7, pp. 10767. Date of Electronic Publication: 2016 Feb 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Antimetabolites, Antineoplastic/*pharmacology , Azacitidine/*analogs & derivatives , Azacitidine/*pharmacology , Cell Survival/*drug effects , DNA Methylation/*drug effects , Epigenesis, Genetic/*drug effects , Gene Expression Regulation, Neoplastic/*drug effects , Leukemia, Myelomonocytic, Chronic/*genetics, Aged ; Aged, 80 and over ; Alleles ; Antimetabolites, Antineoplastic/therapeutic use ; Azacitidine/therapeutic use ; Decitabine ; Female ; HEK293 Cells ; High-Throughput Nucleotide Sequencing ; Humans ; Leukemia, Myelomonocytic, Chronic/drug therapy ; Male ; Middle Aged ; Sequence Analysis, DNA ; Sequence Analysis, RNA

المؤلفون: Hanchate NK; Inserm U837, Développement et Plasticité du Cerveau Postnatal, Centre de Recherche Jean-Pierre Aubert, Lille, France., Giacobini P, Lhuillier P, Parkash J, Espy C, Fouveaut C, Leroy C, Baron S, Campagne C, Vanacker C, Collier F, Cruaud C, Meyer V, García-Piñero A, Dewailly D, Cortet-Rudelli C, Gersak K, Metz C, Chabrier G, Pugeat M, Young J, Hardelin JP, Prevot V, Dodé C

المصدر: PLoS genetics [PLoS Genet] 2012 Aug; Vol. 8 (8), pp. e1002896. Date of Electronic Publication: 2012 Aug 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Axons/*metabolism , Kallmann Syndrome/*genetics , Neuropilin-1/*metabolism , Semaphorin-3A/*genetics, Animals ; Disease Models, Animal ; Embryo, Mammalian/metabolism ; Female ; Fetus/metabolism ; Gonadotropin-Releasing Hormone/metabolism ; Humans ; Male ; Mice ; Mice, 129 Strain ; Mice, Inbred C57BL ; Neuropilin-1/genetics ; Nose/innervation ; Semaphorin-3A/chemistry ; Semaphorin-3A/metabolism

المؤلفون: Thomas S; INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France., Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attié-Bitach T

المصدر: Human mutation [Hum Mutat] 2010 Oct; Vol. 31 (10), pp. 1134-41.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , Sequence Deletion*, High-Throughput Screening Assays/*methods , Hydranencephaly/*genetics , Membrane Transport Proteins/*genetics , Receptors, Virus/*genetics , Vascular Diseases/*genetics, Brain/blood supply ; Chromosomes, Human, Pair 14/genetics ; Consanguinity ; Fetus/blood supply ; Genetic Linkage ; Humans ; Hydrocephalus/genetics ; Membrane Transport Proteins/chemistry ; Neovascularization, Pathologic ; Pedigree ; Polymorphism, Single Nucleotide ; Receptors, Virus/chemistry ; Sequence Analysis, DNA

المؤلفون: Becker E; Service de Biophysique des Fonctions Membranaires, URA CNRS 2096, Département de Biologie Joliot-Curie, CEA Saclay, 91191 Gif-Sur-Yvette Cedex, France., Meyer V, Madaoui H, Guerois R

المصدر: Bioinformatics (Oxford, England) [Bioinformatics] 2006 Jun 01; Vol. 22 (11), pp. 1289-92. Date of Electronic Publication: 2006 Mar 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9808944 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1367-4803 (Print) Linking ISSN: 13674803 NLM ISO Abbreviation: Bioinformatics Subsets: MEDLINE

مواضيع طبية MeSH: DNA Damage* , Mutation*, Cell Cycle Proteins/*genetics , Computational Biology/*methods , Nuclear Proteins/*genetics , Saccharomyces cerevisiae Proteins/*genetics, Amino Acid Sequence ; DNA Repair ; Models, Molecular ; Molecular Sequence Data ; Protein Structure, Tertiary ; Repetitive Sequences, Nucleic Acid ; Sequence Homology, Amino Acid

المؤلفون: Gabriel, Aurélie, Atkins, Joshua, Penha, Ricardo, Smith-Byrne, Karl, Gaborieau, Valerie, Voegele, Catherine, Abedi-Ardekani, Behnoush, Milojevic, Maja, Olaso, Robert, Meyer, Vincent, Boland, Anne, Deleuze, Jean, Zaridze, David, Mukeriya, Anush, Swiatkowska, Beata, Janout, Vladimir, Schejbalová, Miriam, Mates, Dana, Stojšić, Jelena, Ognjanovic, Miodrag, Rashkin, Sara, Kachuri, Linda, Hung, Rayjean, Kar, Siddhartha, Brennan, Paul, Sertier, Anne-Sophie, Ferrari, Anthony, Viari, Alain, Johansson, Mattias, Amos, Christopher, Foll, Matthieu, McKay, James, Witte, John

المصدر: Journal of the National Cancer Institute. 114(8)

مصطلحات موضوعية: Genetic Predisposition to Disease, Genome-Wide Association Study, Germ Cells, Humans, Lung Neoplasms, Mutation, Polymorphism, Single Nucleotide

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2pb2k53n
https://escholarship.org/content/qt2pb2k53n/qt2pb2k53n.pdf