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Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Jurkute, Neringa; Bertacchi, Michele; Arno, Gavin; Tocco, Chiara; Kim, Ungsoo Samuel; Kruszewski, Adam M; Avery, Robert A; Bedoukian, Emma C; Han, Jinu; Ahn, Sung Jun; Pontikos, Nikolas; Acheson, James; Davagnanam, Indran; Bowman, Richard; Kaliakatsos, Marios; Gardham, Alice; Wakeling, Emma; Oluonye, Ngozi; Reddy, Maddy Ashwin; Clark, Elaine; Rosser, Elisabeth; Amati-Bonneau, Patrizia; Charif, Majida; Lenaers, Guy; Meunier, Isabelle; Defoort, Sabine; Vincent-Delorme, Catherine; Robson, Anthony G; Holder, Graham E; Jeanjean, Luc; Martinez-Monseny, Antonio; Vidal-Santacana, Mariona; Dominici, Chloé; Gaggioli, Cedric; Giordano, Nadia; Caleo, Matteo; Liu, Grant T; Webster, Andrew R; Studer, Michèle; Yu-Wai-Man, Patrick.
Affiliation
  • Jurkute N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Bertacchi M; Institute of Ophthalmology, University College London, London, UK.
  • Arno G; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France.
  • Tocco C; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Kim US; Institute of Ophthalmology, University College London, London, UK.
  • Kruszewski AM; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France.
  • Avery RA; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Bedoukian EC; Kim's Eye Hospital, Seoul, South Korea.
  • Han J; Department of Neurology, Hospital of the University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.
  • Ahn SJ; Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Pontikos N; Department of Neurology, Perelman School of Medicine, Philadelphia, PA, USA.
  • Acheson J; Department of Ophthalmology, Perelman School of Medicine, Philadelphia, PA, USA.
  • Davagnanam I; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Bowman R; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
  • Kaliakatsos M; Department of Radiology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
  • Gardham A; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Wakeling E; Institute of Ophthalmology, University College London, London, UK.
  • Oluonye N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Reddy MA; National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK.
  • Clark E; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Rosser E; Department of Brain Repair & Rehabilitation, UCL Queen Square Institute of Neurology, London, UK.
  • Amati-Bonneau P; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Charif M; Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Lenaers G; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.
  • Meunier I; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Defoort S; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Vincent-Delorme C; Wolfson Neurodisability Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
  • Robson AG; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Holder GE; Royal London Hospital, Barts Health NHS Trust, London, UK.
  • Jeanjean L; Department of Neuroscience, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Martinez-Monseny A; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Vidal-Santacana M; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.
  • Dominici C; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Gaggioli C; Genetics and Immuno-cell Therapy Team, Mohammed First University, Oujda, Morocco.
  • Giordano N; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.
  • Caleo M; National Center for Rare Diseases, Inherited Sensory Disorders, Gui de Chauliac Hospital, Montpellier, France.
  • Liu GT; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.
  • Webster AR; Service d'exploration de la vision et neuro-ophtalmologie, CHRU de Lille, Lille, France.
  • Studer M; Service de Génétique médicale, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France.
  • Yu-Wai-Man P; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Brain Commun ; 3(3): fcab162, 2021.
Article in En | MEDLINE | ID: mdl-34466801

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Guideline Language: En Journal: Brain Commun Year: 2021 Document type: Article Affiliation country:

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Guideline Language: En Journal: Brain Commun Year: 2021 Document type: Article Affiliation country: