Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Depienne C."'
Autor:
Spencer-Smith M; Turner Institute for Brain and Mental Health and School of Psychological Sciences, Monash University, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Knight JL; School of Psychology, The University of Queensland, St Lucia, Brisbane, Australia., Lacaze E; Service de Neuropédiatrie, Centre de Référence pour les Malformations et Maladies Congénitales du Cervelet, Paris, France., Depienne C; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France.; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France., Lockhart PJ; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia., Richards LJ; Queensland Brain Institute, The University of Queensland, St Lucia, Brisbane, Australia.; School of Biomedical Sciences, The University of Queensland, St. Lucia, Brisbane, Australia., Heron D; Department of Genetics, APHP, Armand-Trousseau and Pitié Salpêtrière Hospital, Paris, France.; Reference Center for Intellectual Disability of Rare Causes, Paris, France., Leventer RJ; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Australia., Robinson GA; School of Psychology, The University of Queensland, St Lucia, Brisbane, Australia.; Queensland Brain Institute, The University of Queensland, St Lucia, Brisbane, Australia.
Publikováno v:
Developmental medicine and child neurology [Dev Med Child Neurol] 2020 Jun; Vol. 62 (6), pp. 758-762. Date of Electronic Publication: 2020 Feb 14.
Autor:
Duarte K; Department of Cognition and Behavior, Paris-Saclay Institute of Neuroscience (Neuro-PSI CNRS, UMR 9197), Paris-Sud and Paris-Saclay Universities, Orsay, France. Electronic address: Kevin.duarte@u-psud.fr., Heide S; Department of genetics, Reference Center for Intellectual Disabilities of Rare Causes, APHP, GH Pitié Salpêtrière, Paris, France. Electronic address: Solveig.heide@aphp.fr., Poëa-Guyon S; Department of Cognition and Behavior, Paris-Saclay Institute of Neuroscience (Neuro-PSI CNRS, UMR 9197), Paris-Sud and Paris-Saclay Universities, Orsay, France. Electronic address: Sandrine.guyon@u-psud.fr., Rousseau V; Department of Cognition and Behavior, Paris-Saclay Institute of Neuroscience (Neuro-PSI CNRS, UMR 9197), Paris-Sud and Paris-Saclay Universities, Orsay, France. Electronic address: Veronique.rousseau@u-psud.fr., Depienne C; Department of genetics, Reference Center for Intellectual Disabilities of Rare Causes, APHP, GH Pitié Salpêtrière, Paris, France; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany. Electronic address: Christel.depienne@uni-due.de., Rastetter A; Department of genetics, Reference Center for Intellectual Disabilities of Rare Causes, APHP, GH Pitié Salpêtrière, Paris, France. Electronic address: Agnes.rastetter@icm-institue.org., Nava C; Department of genetics, Reference Center for Intellectual Disabilities of Rare Causes, APHP, GH Pitié Salpêtrière, Paris, France. Electronic address: Caroline.nava@aphp.fr., Attié-Bitach T; Unité d'Embryofoetopathologie, Service of Histology-Embryology-Cytogenetics, APHP Necker Enfants Malades & Imagine Institute, Inserm U1163, Paris, France. Electronic address: Tania.attie@inserm.fr., Razavi F; Unité d'Embryofoetopathologie, Service of Histology-Embryology-Cytogenetics, APHP Necker Enfants Malades & Imagine Institute, Inserm U1163, Paris, France., Martinovic J; Unité de foetopathologie, APHP Antoine Béclère, Paris, France., Moutard ML; Department of Pediatrics Neurology, Reference Center for Intellectual Disabilities of Rare Causes APHP, Armand-Trousseau Hospital, Paris, France. Electronic address: Marielaure.moutard@trs.aphp.fr., Cherfils J; Laboratoire de Biologie et Pharmacologie Appliquée, CNRS and Ecole normale supérieure Paris-Saclay, Cachan, France. Electronic address: Jacqueline.cherfils@ens-cachan.fr., Mignot C; Department of genetics, Reference Center for Intellectual Disabilities of Rare Causes, APHP, GH Pitié Salpêtrière, Paris, France. Electronic address: Cyril.mignot@aphp.fr., Héron D; Department of genetics, Reference Center for Intellectual Disabilities of Rare Causes, APHP, GH Pitié Salpêtrière, Paris, France. Electronic address: Delphine.heron@aphp.fr., Barnier JV; Department of Cognition and Behavior, Paris-Saclay Institute of Neuroscience (Neuro-PSI CNRS, UMR 9197), Paris-Sud and Paris-Saclay Universities, Orsay, France. Electronic address: jean-vianney.barnier@u-psud.fr.
Publikováno v:
Neurobiology of disease [Neurobiol Dis] 2020 Mar; Vol. 136, pp. 104709. Date of Electronic Publication: 2019 Dec 14.
Autor:
Heide S; APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France; GRC Intellectual Disability and Autism, UPMC, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France. Electronic address: solveig.heide@aphp.fr., Keren B; APHP, GH Pitié-Salpêtrière, Department of genetics, unit of developmental genomic, Paris, France., Billette de Villemeur T; APHP, Hôpital Armand-Trousseau, Division of pediatric neurology, Paris, France; GRC ConCer-LD, UPMC, Paris, France; Inserm U1141, Paris, France., Chantot-Bastaraud S; APHP, Hôpital Armand-Trousseau, Department of genetics, division of chromosomal genetics, Paris, France., Depienne C; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France; APHP, GH Pitié-Salpêtrière, Department of genetics, unit of developmental genomic, Paris, France; Department of translational medicine and neurogenetics, IGBMC, CNRS UMR 7104/INSERM U964, Université de Strasbourg, Illkirch, France; Institute of medical genetics of Alsace, Division of cytogenetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Nava C; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France; APHP, GH Pitié-Salpêtrière, Department of genetics, unit of developmental genomic, Paris, France., Mignot C; APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France., Jacquette A; APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France., Fonteneau E; APHP, GH Pitié-Salpêtrière, Department of genetics, unit of developmental genomic, Paris, France., Lejeune E; APHP, GH Pitié-Salpêtrière, Department of genetics, unit of developmental genomic, Paris, France., Mach C; APHP, GH Pitié-Salpêtrière, Department of genetics, unit of developmental genomic, Paris, France., Marey I; APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France., Whalen S; APHP, Hôpital Armand-Trousseau, Department of genetics, Division of clinical genetics, Paris, France., Lacombe D; CHU Bordeaux, Division of medical genetics, INSERM U1211, Université de Bordeaux, Bordeaux, France., Naudion S; CHU Bordeaux, Division of medical genetics, INSERM U1211, Université de Bordeaux, Bordeaux, France., Rooryck C; CHU Bordeaux, Division of medical genetics, INSERM U1211, Université de Bordeaux, Bordeaux, France., Toutain A; Hôpital Bretonneau, CHU Tours, Division of genetics, Tours, France., Caignec CL; CHU Nantes, Institute of biology, Division of medical genetics, Inserm UMR 915/CNRS ERL3147, Nantes, France., Haye D; APHP, Hôpital Robert-Debré, Division of medical genetics, Paris, France., Olivier-Faivre L; CHU Dijon, Hôpital d'enfants, FHU-TRANSLAD, Genetic Center, Dijon, France., Masurel-Paulet A; CHU Dijon, Hôpital d'enfants, FHU-TRANSLAD, Genetic Center, Dijon, France., Thauvin-Robinet C; CHU Dijon, Hôpital d'enfants, FHU-TRANSLAD, Genetic Center, Dijon, France., Lesne F; APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France., Faudet A; APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France., Ville D; HCL, GH Est, Division of pediatric neurology, Bron, France., des Portes V; HCL, GH Est, Division of pediatric neurology, Bron, France., Sanlaville D; HCL, Division of genetics, Bron, France; Center of Research in neurosciences of Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Université Claude BernardLyon 1, Lyon, France., Siffroi JP; APHP, Hôpital Armand-Trousseau, Department of genetics, division of chromosomal genetics, Paris, France., Moutard ML; APHP, Hôpital Armand-Trousseau, Division of pediatric neurology, Paris, France; GRC ConCer-LD, UPMC, Paris, France; Inserm U1141, Paris, France., Héron D; APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France; GRC Intellectual Disability and Autism, UPMC, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France; APHP, Hôpital Armand-Trousseau, Department of genetics, Division of clinical genetics, Paris, France.
Publikováno v:
The Journal of pediatrics [J Pediatr] 2017 Jun; Vol. 185, pp. 160-166.e1. Date of Electronic Publication: 2017 Mar 08.
Autor:
Marsh AP; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia., Heron D; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.; Groupe de Recherche Clinique (GRC) `Déficience Intellectuelle et Autisme' UPMC, Paris, France.; Centre de Référence `Déficiences Intellectuelles de Causes Rares', Paris, France., Edwards TJ; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.; School of Medicine, University of Queensland, Herston, Brisbane, Australia., Quartier A; IGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France., Galea C; Drug Delivery, Disposition and Dynamics (D4), Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia., Nava C; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France., Rastetter A; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France., Moutard ML; AP-HP, Hôpital Trousseau, Service de Neuropédiatrie, Paris, France.; UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.; Centre de Référence `Neurogénétique', Paris, France., Anderson V; Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia., Bitoun P; Génétique Médicale, CHU Paris Nord, Hôpital Jean Verdier, Bondy, France., Bunt J; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia., Faudet A; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France., Garel C; AP-HP GHUEP, Hôpital Armand Trousseau, Service de Radiologie, Paris, France., Gillies G; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia., Gobius I; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia., Guegan J; iCONICS Facility, ICM, Paris, France., Heide S; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.; Groupe de Recherche Clinique (GRC) `Déficience Intellectuelle et Autisme' UPMC, Paris, France., Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France., Lesne F; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France., Lukic V; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia., Mandelstam SA; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.; Department of Radiology, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia., McGillivray G; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia., McIlroy A; Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia., Méneret A; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France.; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Neurologie, Paris, France., Mignot C; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.; Groupe de Recherche Clinique (GRC) `Déficience Intellectuelle et Autisme' UPMC, Paris, France.; Centre de Référence `Déficiences Intellectuelles de Causes Rares', Paris, France., Morcom LR; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia., Odent S; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, CHU Rennes, Rennes, France.; UMR 6290 CNRS, IGDR Institut de Génétique et Développement de Rennes, Université de Rennes 1, Rennes, France., Paolino A; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia., Pope K; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia., Riant F; AP-HP, Groupe Hospitalier Saint-Louis -La Riboisière -Fernand Vidal, Laboratoire de Génétique, Paris, France., Robinson GA; Neuropsychology Research Unit, School of Psychology, University of Queensland, Brisbane, Australia., Spencer-Smith M; Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.; School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Clayton, Victoria, Australia., Srour M; Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.; Department of Neurology and Neurosurgery, McGill University Health Center, Montreal, Quebec, Canada., Stephenson SE; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia., Tankard R; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Trouillard O; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France., Welniarz Q; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France.; Institut de Biologie Paris Seine, Neuroscience Paris Seine, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Paris, France., Wood A; Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.; School of Life and Health Sciences, Aston University, Birmingham, UK., Brice A; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France., Rouleau G; Department of Neurology and Neurosurgery, McGill University Health Center, Montreal, Quebec, Canada.; Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada., Attié-Bitach T; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris-Descartes University, Sorbonne Paris Cité and Imagine Institute, Paris, France.; AP-HP, Hôpital Necker-Enfants Malades, Département de Génétique, Paris, France., Delatycki MB; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Parkville, Victoria, Australia., Mandel JL; IGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France.; Laboratoires de Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Amor DJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia., Roze E; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France.; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Neurologie, Paris, France., Piton A; IGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France.; Laboratoires de Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Bahlo M; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Billette de Villemeur T; Centre de Référence `Déficiences Intellectuelles de Causes Rares', Paris, France.; AP-HP, Hôpital Trousseau, Service de Neuropédiatrie, Paris, France.; UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.; INSERM U1141, Paris, France., Sherr EH; Department of Neurology, UCSF Benioff Children's Hospital, San Francisco, California, USA., Leventer RJ; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Neuroscience Research Group, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.; Department of Neurology, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia., Richards LJ; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.; University of Queensland, School of Biomedical Sciences, St. Lucia, Brisbane, Australia., Lockhart PJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia., Depienne C; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.; IGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France.; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France.; Laboratoires de Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Publikováno v:
Nature genetics [Nat Genet] 2017 Apr; Vol. 49 (4), pp. 511-514. Date of Electronic Publication: 2017 Feb 27.