Zobrazeno 1 - 10
of 1 066
pro vyhledávání: '"Doco-Fenzy, M."'
Autor:
Massier M; Department of Genetics, Reims University Hospital, Reims, France., Doco-Fenzy M; Department of Genetics, Reims University Hospital, Reims, France.; Department of Genetics, Nantes University Hospital, Nantes, France., Egloff M; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, INSERM, LNEC, Department of Genetics, Poitiers University Hospital, Poitiers, France., Le Guillou X; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, CNRS, LMA, Department of Genetics, Poitiers University Hospital, Poitiers, France., Le Guyader G; Department of Genetics, Poitiers University Hospital, Poitiers, France., Redon S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Benech C; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Le Millier K; Department of Genetics, Brest University Hospital, Brest, France., Uguen K; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Ropars J; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France., Sacaze E; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France., Audebert-Bellanger S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France., Apetrei A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Molin A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Gruchy N; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Vincent-Devulder A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Spodenkiewicz M; Department of Genetics, Le Reunion University Hospital, St-Pierre, France., Jacquin C; Department of Genetics, Reims University Hospital, Reims, France., Loron G; Department of Neonatal Medicine and Pediatric Intensive Care, University of Reims Champagne-Ardenne, CReSTIC, Reims University Hospital, Reims, France., Thibaud M; Department of Pediatrics, American Memorial Hospital, Reims, France., Delplancq G; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France., Brisset S; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France., Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Malan V; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Romana S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Marlin S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Amiel J; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Marquet V; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France., Dauriat B; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France., Moradkhani K; Department of Genetics, Nantes University Hospital, Nantes, France., Mercier S; Department of Genetics, Nantes University Hospital, Nantes, France., Isidor B; Department of Genetics, Nantes University Hospital, Nantes, France., Arpin S; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Pujalte M; Department of Genetics, Hospices Civils de Lyon, Lyon, France., Jedraszak G; Constitutional Genetic Laboratory, University Hospital of Amiens & UR4666 HEMATIM, University of Picardie Jules Verne, Amiens, France., Pebrel-Richard C; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France., Salaun G; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France., Laffargue F; Department of Medical Genetics, UIC ADDIR (GRIUC ADERGEN), Constitutive Reference Center CLAD South-East: Developmental anomalies and malformative syndromes, Clermont-Ferrand University Hospital, Clermont-Ferrand, France., Boudjarane J; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France., Missirian C; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France., Chelloug N; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France., Toutain A; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Chiesa J; Department of Genetics, Nimes, University Hospital, Nimes University Hospital, Nimes, France., Keren B; Department of Genetics, APHP Sorbonne University, Paris, France., Mignot C; Department of Genetics, APHP Sorbonne University, Paris, France., Gouy E; Department of Genetics, Hospices Civils de Lyon, Lyon, France., Jaillard S; Department of Cytogenetics and Cell Biology, Rennes university hospital, Rennes, France., Landais E; Department of Genetics, Reims University Hospital, Reims, France., Poirsier C; Department of Genetics, Reims University Hospital, Reims, France.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63531. Date of Electronic Publication: 2024 Feb 29.
Autor:
Gorokhova S; APHM, CHU Timone, Department of Medical Genetics, Marseille, France ; Aix Marseille Univ, Inserm, U1251-MMG, Marseille Medical Genetics Marseille France., Rouzier C; CHU de Nice, Department of Medical Genetics, National Centre for Mitochondrial Diseases Nice, France ; Université Côte d'Azur, CNRS, Inserm, IRCAN Nice France., Acquaviva-Bourdain C; Hospices Civils de Lyon, Service de biochimie et biologie moléculaire - Unité médicale maladies héréditaires du métabolisme Bron France., Baert-Desurmont S; Univ Rouen Normandie, Normandie univ, Inserm U1245 ; CHU Rouen, Department of Genetics Rouen France., Caputo S; Institut Curie - Service de génétique Paris France., Chatron N; Hospices Civils de Lyon, Service de génétique Bron France., Coulet F; Département de génétique médicale - UF d'onco-angiogénétique et génomique des tumeurs solides AP-HP, Sorbonne Université - Hôpital de la Pitié-Salpêtrière Paris France., Doco-Fenzy M; CHU de Nantes, Service de génétique, Pôle de biologie Nantes France., Keren B; Département de génétique médicale, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France ; Sorbonne Université Paris France., Le Marechal C; CHU Brest, Laboratoire de génétique moléculaire Brest France., Nicolas G; Univ Rouen Normandie, Normandie univ, Inserm U1245 ; CHU Rouen, Department of Genetics Rouen France., Procaccio V; CHU Angers, Service de génétique Angers France., Richard P; APHP, Unité fonctionnelle de cardiogénétique et myogénétique moléculaire et cellulaire, Service de biochimie métabolique Paris France., Romanet P; APHM, CHU Timone, Department of Medical Genetics, Marseille, France ; Aix Marseille Univ, Inserm, U1251-MMG, Marseille Medical Genetics Marseille France., Snanoudj S; CHU de Rouen, Laboratoire de biochimie métabolique Rouen France., Muller J; Laboratoires de diagnostic génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, France ; Laboratoire de génétique médicale, UMR_S Inserm U1112, Institut de génétique médicale d'Alsace (IGMA), Faculté de médecine, Université de Strasbourg Strasbourg France., Krahn M; APHM, CHU Timone, Department of Medical Genetics, Marseille, France ; Aix Marseille Univ, Inserm, U1251-MMG, Marseille Medical Genetics Marseille France., Saugier-Veber P; Univ Rouen Normandie, Normandie univ, Inserm U1245 ; CHU Rouen, Department of Genetics Rouen France.
Publikováno v:
Medecine sciences : M/S [Med Sci (Paris)] 2024 Oct; Vol. 40 (10), pp. 767-769. Date of Electronic Publication: 2024 Oct 25.
Autor:
Soilly, Al, Robert-Viard, C, Besse, C, Bruel, Al, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, Ml, Deleuze, Jf, Binquet, C, Thauvin-Robinet, C, Lejeune, C, Arpin, S, Blanchet, P, Blesson, S, Boute-Benejean, O, Busa, T, Colin, E, Coubes, C, Devillard, F, Edery, P, El Chehadeh, S, Fradin, M, Goldenberg, A, Guerrot, A-M, Herenger, Y, Houcinat, N, Jean-Marcais, N, Jouk, P., Lambert, L, Lavillaureix, A, Legendre, M, Leheup, B, Manouvrier, S, Mercier, S, Moutton, S, Nizon, M, Pasquier, L, Petit, F, Pinson, L, Poirsier, C, Pons, L, Putoux, A, Quelin, C, Renaud, M, Rossi, M, Sorlin, A, Spodenkiewicz, M, Thevenon, J, Toutain, A, Van-Gils, J, Vanlerberghe, C, Verloes, A, Vincent, M, Vincent-Delorme, C, Willems, M, Ziegler, A
Publikováno v:
BMC Health Services Research
BMC Health Services Research, 2023, 23 (1), pp.386. ⟨10.1186/s12913-023-09373-z⟩
BMC Health Services Research, 2023, 23 (1), pp.386. ⟨10.1186/s12913-023-09373-z⟩
Background: With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To help French p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c32699af80841f12baa0810b47fab1ea
https://univ-rennes.hal.science/hal-04164227
https://univ-rennes.hal.science/hal-04164227
Autor:
Nicolas G; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France. Electronic address: gaelnicolas@hotmail.com., Zaréa A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France., Lacour M; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France., Quenez O; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France., Rousseau S; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France., Richard AC; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France., Bonnevalle A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France., Schramm C; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France., Olaso R; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Sandron F; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Boland A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Andriuta D; Service de Neurologie CHU Amiens et Laboratoire de Neurosciences Fonctionnelles et Pathologies, Université de Picardie Jules Verne, Amiens, France., Anthony P; Department of Neurology, Hôpitaux Civils de Colmar, F-68000 Colmar, France., Auriacombe S; Univ. Bordeaux, CNRS UMR 5293, Institut des Maladies Neurodégénératives, Bordeaux, France., Balageas AC; Centre Mémoire Ressources et Recherche, CHRU de Tours, Tours, France., Ballan G; Centre Hospitalier de la Côte Basque, Bayonne, France., Barbay M; Service de Neurologie CHU Amiens et Laboratoire de Neurosciences Fonctionnelles et Pathologies, Université de Picardie Jules Verne, Amiens, France., Béjot Y; Department of Neurology, University Hospital of Dijon, University of Burgundy, Dijon, France., Belliard S; Unité de recherche 1077 INSERM-EPHE-UNICAEN Neuropsychologie & Imagerie de la Mémoire Humaine (NIMH), Caen, France; Centre Mémoire Ressources et Recherche Haute Bretagne, CHU Rennes, Rennes, France., Benaiteau M; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Bennys K; Memory Ressources Research Center, Department of Neurology, University Hospital of Montpellier, Montpellier, France., Bombois S; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Boutoleau-Bretonnière C; CHU Nantes, Memory Center, Inserm CIC4, 44093 Nantes, France., Branger P; Department of Neurology, Caen University Hospital, Caen, France., Carlier J; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Cartz-Piver L; Memory Ressources Research Center, Department of Neurology, University Hospital of Limoges, France Inserm U1094, IRD U270, EPIMACT, Université of Limoges, Limoges, France., Cassagnaud P; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Ceccaldi MP; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France., Chauviré V; CMRR, CRMR Neurogénétique, Service de Neurologie, CHU d'ANGERS, Angers, France., Chen Y; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz 59000 Lille, France., Cogez J; Department of Neurology, Caen University Hospital, Caen, France., Cognat E; Cognitive Neurology Center, AP-HP.Nord, Site Lariboisière Fernand-Widal, Paris, France; Université Paris Cité, UMR-S 1144, INSERM, Paris, France., Contegal-Callier F; Hospices Civils de Beaune, Consultation mémoire, Beaune, France., Corneille L; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France., Couratier P; CMRR Limoges, Service de Neurologie CHU Limoges, Limoges, France., Cretin B; CMRR d'Alsace, Service de Neurologie, CHU Strasbourg, Strasbourg, France., Crinquette C; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Dauriat B; Service de Génétique Médicale, Hopital Mère-Enfant, CHU Limoges, Limoges, France., Dautricourt S; CMRR Lyon, Department of Neurology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., de la Sayette V; Department of Neurology, Caen University Hospital, Caen, France; Normandie UNIV, UNICAEN, PSL Research University, EPHE, INSERM, CHU de Caen, Neuropsychologie et Imagerie de la Mémoire Humaine, Caen, France., de Liège A; Service de Neurologie, APHP, Hôpital Avicenne, Université Sorbonne Paris Nord, Bobigny, France., Deffond D; CMRR Clermont-Ferrand, Service de Neurologie, CHU Clermont-Ferrand, Clermont-Ferrand, France., Demurger F; Service de génétique, CHBA, Vannes, France., Deramecourt V; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz 59000 Lille, France., Derollez C; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Dionet E; CMRR Clermont-Ferrand, Service de Neurologie, CHU Clermont-Ferrand, Clermont-Ferrand, France., Doco Fenzy M; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France; CHU Nantes, Service de Génétique, Nantes, France; CHU Reims, Service de Génétique, Reims, France., Dumurgier J; Cognitive Neurology Center, AP-HP.Nord, Site Lariboisière Fernand-Widal, Paris, France; Université Paris Cité, UMR-S 1144, INSERM, Paris, France., Dutray A; Service de Neurologie, Centre Hospitalier Perpignan, Perpignan, France., Etcharry-Bouyx F; CMRR, CRMR Neurogénétique, Service de Neurologie, CHU d'ANGERS, Angers, France., Formaglio M; CMRR Lyon, Department of Neurology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., Gabelle A; Memory Ressources Research Center, Department of Neurology, University Hospital of Montpellier, Montpellier, France., Gainche-Salmon A; Centre Mémoire Ressources et Recherche Haute Bretagne, CHU Rennes, Rennes, France., Godefroy O; Service de Neurologie CHU Amiens et Laboratoire de Neurosciences Fonctionnelles et Pathologies, Université de Picardie Jules Verne, Amiens, France., Graber M; Centre mémoire ressources et recherche, CHU Dijon, Dijon, France., Gregoire C; CHU de Bordeaux, Pôle de Neurosciences Cliniques, Centre Mémoire de Ressources et de Recherche, Bordeaux, France., Grimaldi S; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France., Gueniat J; Centre mémoire ressources et recherche, CHU Dijon, Dijon, France., Gueriot C; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France., Guillet-Pichon V; CMRR, CRMR Neurogénétique, Service de Neurologie, CHU d'ANGERS, Angers, France., Haffen S; Centre mémoire Recherche Ressources, Service de Neurologie, CHU Besançon, Besançon, France., Hanta CR; Centre Mémoire Ressources et Recherche Haute Bretagne, CHU Rennes, Rennes, France., Hardy C; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France., Hautecloque G; Department of Neurology, Hôpitaux Civils de Colmar, F-68000 Colmar, France., Heitz C; Institut du cerveau Trocadero, Paris, France; Neurology Department, Hôpital Universitaire de Nîmes, Nîmes, France., Hourregue C; Cognitive Neurology Center, AP-HP.Nord, Site Lariboisière Fernand-Widal, Paris, France., Jonveaux T; Centre Mémoire de Ressources et de Recherche de Lorraine Service de Neurologie CHRU Nancy, Nancy, France; Laboratoire 2LPN EA 7489 Université de Lorraine, Nancy, France., Jurici S; Consultation Mémoire, Service de Gériatrie, Centre Hospitalier Perpignan, Perpignan, France., Koric L; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France; Aix-Marseille Univ, UMR 7249, CNRS, Centrale Marseille, Institut Fresnel, Marseille, France., Krolak-Salmon P; CMRR Lyon, Department of Neurology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., Lagarde J; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Lanoiselée HM; Service de neurologie, Centre Hospitalier Régional d'Orléans, Orléans, France., Laurens B; CHU de Bordeaux, Pôle de Neurosciences Cliniques, Centre Mémoire de Ressources et de Recherche, Bordeaux, France., Le Ber I; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Le Guyader G; Service de Génétique, CHU Poitiers, 86022 Poitiers Cedex, France., Leblanc A; Consultations neurologiques, HIA Clermont-Tonnerre, Brest, France; Service de neurologie, CHU Cavale-Blanche, Brest, France., Lebouvier T; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz 59000 Lille, France., Levy R; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Lippi A; Service de Neurologie, Hopital Gui de Chauliac, CHU de Montpellier, Montpellier, France., Mackowiak MA; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Magnin E; Laboratoire de neuroscience, Université de Franche-Comté UFC et Service de Neurologie, CMRR, CHU Besançon, Besançon, France., Marelli C; Service de Neurologie, Hopital Gui de Chauliac, CHU de Montpellier, Montpellier, France., Martinaud O; Department of Neurology, Caen University Hospital, Caen, France; Normandie UNIV, UNICAEN, PSL Research University, EPHE, INSERM, CHU de Caen, Neuropsychologie et Imagerie de la Mémoire Humaine, Caen, France., Maureille A; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Migliaccio R; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Milongo-Rigal E; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Mohr S; Centre mémoire ressources et recherche, CHU Dijon, Dijon, France., Mollion H; CMRR Lyon, Department of Neurology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., Morin A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France; Département de Psychiatrie, Centre Hospitalier du Rouvray, Université de Rouen, 76000, Sotteville-lès-Rouen, France., Nivelle J; CH Ales Cévennes, Alès, France., Noiray C; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Olivieri P; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Paquet C; Cognitive Neurology Center, AP-HP.Nord, Site Lariboisière Fernand-Widal, Paris, France; Université Paris Cité, UMR-S 1144, INSERM, Paris, France., Pariente J; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France; Toulouse NeuroImaging Center (ToNIC), INSERM-University of Toulouse Paul Sabatier, Toulouse, France., Pasquier F; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz 59000 Lille, France., Perron A; Department of Neurology, Hôpitaux Civils de Colmar, F-68000 Colmar, France., Philippi N; CMRR d'Alsace, Service de Neurologie, CHU Strasbourg, Strasbourg, France., Planche V; Univ. Bordeaux, CNRS UMR 5293, Institut des Maladies Neurodégénératives, Bordeaux, France; CHU de Bordeaux, Pôle de Neurosciences Cliniques, Centre Mémoire de Ressources et de Recherche, Bordeaux, France., Pouclet-Courtemanche H; Department of Neurology, CHU Nantes, Nantes, France., Rafiq M; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France; Toulouse NeuroImaging Center (ToNIC), INSERM-University of Toulouse Paul Sabatier, Toulouse, France., Rollin-Sillaire A; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Roué-Jagot C; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Saracino D; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Sarazin M; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Sauvée M; Centre Mémoire de Ressources et de Recherche, Pôle PReNeLe, CHU Grenoble Alpes CS 10226, 38043 Grenoble Cedex 9, France; Unité de recherche mixte Université Grenoble Alpes/Université Savoie Montblanc, CNRS UMR 5115, Laboratoire de Psychologie et Neurocognition (LPNC), 38000 Grenoble, France., Sellal F; Department of Neurology, Hôpitaux Civils de Colmar, F-68000 Colmar, France; University of Strasbourg, Medicine Faculty, INSERM, U-1118, Strasbourg, France., Teichmann M; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Thauvin C; Genetics Center, University Hospital of Dijon, University of Burgundy, Dijon, France., Thomas Q; Department of Neurology, University Hospital of Dijon, University of Burgundy, Dijon, France; Genetics Center, University Hospital of Dijon, University of Burgundy, Dijon, France., Tisserand C; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Turpinat C; Service de Neurologie, Hopital Gui de Chauliac, CHU de Montpellier, Montpellier, France., Van Damme L; Service de Neurologie, Centre Hospitalier Perpignan, Perpignan, France., Vercruysse O; Department of Neurology, Saint Brieuc Hospital, Saint-Brieuc, France., Villain N; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Wagemann N; CHU Nantes, Memory Center, Inserm CIC4, 44093 Nantes, France., Charbonnier C; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Biostatistics and CNRMAJ, F-76000 Rouen, France., Wallon D; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101082. Date of Electronic Publication: 2024 Jan 24.
Autor:
François, C., Poli-Merol, M.L., Tournois, C., Cornillet-Lefebvre, P., Guillard, T., Djerada, Z., Doco Fenzy, M., Nguyen, P.
Publikováno v:
In British Journal of Oral & Maxillofacial Surgery June 2017 55(5):488-495
Autor:
Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y.
Publikováno v:
Genetics in Medicine, 25
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4
Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on Clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595c5dc88c1376b42f99283c2dea407e
https://doi.org/10.1016/j.gim.2023.100018
https://doi.org/10.1016/j.gim.2023.100018
Autor:
McElreavey, K., Vilain, E., Barbaux, S., Fuqua, J. S., Fechner, P. Y., Souleyreau, N., Doco-Fenzy, M., Gabriel, R., Quereux, C., Fellous, M., Berkovitz, G. D.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1996 Aug 01. 93(16), 8590-8594.
Externí odkaz:
https://www.jstor.org/stable/39908
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Soilly, AL, Robert-Viard, C, Besse, C, Bruel, AL, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, ML, Deleuze, JF, Binquet, C, Thauvin-Robinet, C, Lejeune, C
Additional file 1. Resources used (year 2018). Full details of resources used.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ffcd80fcd9eecf9947ab1307e8e305a
Autor:
Riquin K; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France kevin.riquin@univ-nantes.fr., Isidor B; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France., Mercier S; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France., Nizon M; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France., Colin E; CHU Angers, Service de Génétique médicale, Angers, France.; UMR CNRS 6214-INSERM 1083, Université d'Angers, Angers, France., Bonneau D; CHU Angers, Service de Génétique médicale, Angers, France.; UMR CNRS 6214-INSERM 1083, Université d'Angers, Angers, France., Pasquier L; Service de Génétique Clinique, ERN ITHACA, Rennes, France., Odent S; Service de Génétique Clinique, ERN ITHACA, Rennes, France.; Institut de Génétique et Développement de Rennes, IGDR UMR 6290 CNRS, INSERM, IGDR Univ Rennes, Rennes, France., Le Guillou Horn XM; Service de génétique médicale, CHU de Poitiers, Poitiers, France.; LabCom I3M-Dactim mis/LMA CNRS 7348, Université de Poitiers, Poitiers, France., Le Guyader G; Service de génétique médicale, CHU de Poitiers, Poitiers, France., Toutain A; UF de Génétique Médicale, Centre Hospitalier Universitaire, Tours, France.; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France., Meyer V; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, France., Pichon O; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France., Doco-Fenzy M; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France., Bézieau S; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France., Cogné B; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.
Publikováno v:
Journal of medical genetics [J Med Genet] 2023 Dec 21; Vol. 61 (1), pp. 47-56. Date of Electronic Publication: 2023 Dec 21.