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YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Diaz, Jorge; Gérard, Xavier; Emerit, Michel-Boris; Areias, Julie; Geny, David; Dégardin, Julie; Simonutti, Manuel; Guerquin, Marie-Justine; Collin, Thibault; Viollet, Cécile; Billard, Jean-Marie; Métin, Christine; Hubert, Laurence; Larti, Farzaneh; Kahrizi, Kimia; Jobling, Rebekah; Agolini, Emanuele; Shaheen, Ranad; Zigler, Alban; Rouiller-Fabre, Virginie; Rozet, Jean-Michel; Picaud, Serge; Novelli, Antonio; Alameer, Seham; Najmabadi, Hossein; Cohn, Ronald; Munnich, Arnold; Barth, Magalie; Lugli, Licia; Alkuraya, Fowzan S; Blaser, Susan; Gashlan, Maha; Besmond, Claude; Darmon, Michèle; Masson, Justine.
Afiliação
  • Diaz J; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.
  • Gérard X; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France.
  • Emerit MB; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.
  • Areias J; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.
  • Geny D; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.
  • Dégardin J; INSERM UMR-S968, Institut de la vision, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris F-75012, Université Pierre et Marie Curie, France.
  • Simonutti M; INSERM UMR-S968, Institut de la vision, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris F-75012, Université Pierre et Marie Curie, France.
  • Guerquin MJ; CEA, DSV, IRCM, SCSR, Fontenay-Aux-Roses, France.
  • Collin T; Saint Pères Paris Institute for the Neurosciences CNRS - UMR 8003 Université de Paris, Paris 75006, France.
  • Viollet C; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.
  • Billard JM; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.
  • Métin C; INSERM, UMR-S1270, Institut du Fer à Moulin, Sorbonne Université, Paris F-75005, France.
  • Hubert L; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France.
  • Larti F; University of Social Welfare and Rehabilitation Sciences, Genetics Research Center, Tehran 19834, Iran.
  • Kahrizi K; University of Social Welfare and Rehabilitation Sciences, Genetics Research Center, Tehran 19834, Iran.
  • Jobling R; The Hospital for Sick Children, Molecular Genetics, Toronto, Canada.
  • Agolini E; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
  • Shaheen R; King Faisal Specialist Hospital and Research Center, Developmental Genetics Unit, Riyadh 11211, Saudi Arabia.
  • Zigler A; CHU Angers, Génétique, France.
  • Rouiller-Fabre V; CEA, DSV, IRCM, SCSR, Fontenay-Aux-Roses, France.
  • Rozet JM; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France.
  • Picaud S; INSERM UMR-S968, Institut de la vision, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris F-75012, Université Pierre et Marie Curie, France.
  • Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
  • Alameer S; Department of Pediatrics, King Khaled National Guard Hospital, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
  • Najmabadi H; University of Social Welfare and Rehabilitation Sciences, Genetics Research Center, Tehran 19834, Iran.
  • Cohn R; The Hospital for Sick Children, Molecular Genetics, Toronto, Canada.
  • Munnich A; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France.
  • Barth M; CHU Angers, Génétique, France.
  • Lugli L; Division of Neonatal Intensive Care Unit, Department of Pediatrics, University Hospital, 41125 Modena, Italy.
  • Alkuraya FS; King Faisal Specialist Hospital and Research Center, Developmental Genetics Unit, Riyadh 11211, Saudi Arabia.
  • Blaser S; Division of Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
  • Gashlan M; King Faisal Specialist Hospital and Research Center, Developmental Genetics Unit, Riyadh 11211, Saudi Arabia.
  • Besmond C; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France.
  • Darmon M; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.
  • Masson J; INSERM, UMR-S1270, Institut du Fer à Moulin, Sorbonne Université, Paris F-75005, France.
Brain ; 143(10): 2911-2928, 2020 10 01.
Article em En | MEDLINE | ID: mdl-33103737
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cílios / Proteínas de Transporte Vesicular / Transtornos do Neurodesenvolvimento / Complexo de Golgi / Mutação Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cílios / Proteínas de Transporte Vesicular / Transtornos do Neurodesenvolvimento / Complexo de Golgi / Mutação Idioma: En Ano de publicação: 2020 Tipo de documento: Article