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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Marsh, Ashley P L; Heron, Delphine; Edwards, Timothy J; Quartier, Angélique; Galea, Charles; Nava, Caroline; Rastetter, Agnès; Moutard, Marie-Laure; Anderson, Vicki; Bitoun, Pierre; Bunt, Jens; Faudet, Anne; Garel, Catherine; Gillies, Greta; Gobius, Ilan; Guegan, Justine; Heide, Solveig; Keren, Boris; Lesne, Fabien; Lukic, Vesna; Mandelstam, Simone A; McGillivray, George; McIlroy, Alissandra; Méneret, Aurélie; Mignot, Cyril; Morcom, Laura R; Odent, Sylvie; Paolino, Annalisa; Pope, Kate; Riant, Florence; Robinson, Gail A; Spencer-Smith, Megan; Srour, Myriam; Stephenson, Sarah E M; Tankard, Rick; Trouillard, Oriane; Welniarz, Quentin; Wood, Amanda; Brice, Alexis; Rouleau, Guy; Attié-Bitach, Tania; Delatycki, Martin B; Mandel, Jean-Louis; Amor, David J; Roze, Emmanuel; Piton, Amélie; Bahlo, Melanie; Billette de Villemeur, Thierry; Sherr, Elliott H; Leventer, Richard J.
Afiliação
  • Marsh AP; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Heron D; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Edwards TJ; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Quartier A; Groupe de Recherche Clinique (GRC) `Déficience Intellectuelle et Autisme' UPMC, Paris, France.
  • Galea C; Centre de Référence `Déficiences Intellectuelles de Causes Rares', Paris, France.
  • Nava C; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
  • Rastetter A; School of Medicine, University of Queensland, Herston, Brisbane, Australia.
  • Moutard ML; IGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France.
  • Anderson V; Drug Delivery, Disposition and Dynamics (D4), Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
  • Bitoun P; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Bunt J; 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.
  • Faudet 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.
  • Garel C; AP-HP, Hôpital Trousseau, Service de Neuropédiatrie, Paris, France.
  • Gillies G; UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.
  • Gobius I; Centre de Référence `Neurogénétique', Paris, France.
  • Guegan J; Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Heide S; Génétique Médicale, CHU Paris Nord, Hôpital Jean Verdier, Bondy, France.
  • Keren B; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
  • Lesne F; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Lukic V; AP-HP GHUEP, Hôpital Armand Trousseau, Service de Radiologie, Paris, France.
  • Mandelstam SA; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
  • McGillivray G; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
  • McIlroy A; iCONICS Facility, ICM, Paris, France.
  • Méneret A; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Mignot C; Groupe de Recherche Clinique (GRC) `Déficience Intellectuelle et Autisme' UPMC, Paris, France.
  • Morcom LR; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Odent S; 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.
  • Paolino A; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Pope K; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
  • Riant F; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Robinson GA; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.
  • Spencer-Smith M; Department of Radiology, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Srour M; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Stephenson SE; Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Tankard R; 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.
  • Trouillard O; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Neurologie, Paris, France.
  • Welniarz Q; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Wood A; Groupe de Recherche Clinique (GRC) `Déficience Intellectuelle et Autisme' UPMC, Paris, France.
  • Brice A; Centre de Référence `Déficiences Intellectuelles de Causes Rares', Paris, France.
  • Rouleau G; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
  • Attié-Bitach T; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, CHU Rennes, Rennes, France.
  • Delatycki MB; UMR 6290 CNRS, IGDR Institut de Génétique et Développement de Rennes, Université de Rennes 1, Rennes, France.
  • Mandel JL; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
  • Amor DJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Roze E; AP-HP, Groupe Hospitalier Saint-Louis -La Riboisière -Fernand Vidal, Laboratoire de Génétique, Paris, France.
  • Piton A; Neuropsychology Research Unit, School of Psychology, University of Queensland, Brisbane, Australia.
  • Bahlo M; Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Billette de Villemeur T; School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Clayton, Victoria, Australia.
  • Sherr EH; Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.
  • Leventer RJ; Department of Neurology and Neurosurgery, McGill University Health Center, Montreal, Quebec, Canada.
Nat Genet ; 49(4): 511-514, 2017 Apr.
Article em En | MEDLINE | ID: mdl-28250454
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Receptores de Superfície Celular / Proteínas Supressoras de Tumor / Agenesia do Corpo Caloso / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Austrália País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Receptores de Superfície Celular / Proteínas Supressoras de Tumor / Agenesia do Corpo Caloso / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Austrália País de publicação: Estados Unidos