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Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht, Helen J; Maconachie, Gail D E; Han, Jinu; Kessel, Line; van Genderen, Maria M; McLean, Rebecca J; Hisaund, Michael; Tu, Zhanhan; Hertle, Richard W; Gronskov, Karen; Bai, Dayong; Wei, Aihua; Li, Wei; Jiao, Yonghong; Smirnov, Vasily; Choi, Jae-Hwan; Tobin, Martin D; Sheth, Viral; Purohit, Ravi; Dawar, Basu; Girach, Ayesha; Strul, Sasha; May, Laura; Chen, Fred K; Heath Jeffery, Rachael C; Aamir, Abdullah; Sano, Ronaldo; Jin, Jing; Brooks, Brian P; Kohl, Susanne; Arveiler, Benoit; Montoliu, Lluis; Engle, Elizabeth C; Proudlock, Frank A; Nishad, Garima; Pani, Prateek; Varma, Girish; Gottlob, Irene; Thomas, Mervyn G.
Affiliation
  • Kuht HJ; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group.
  • Maconachie GDE; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Academic Unit of Ophthalmology and Orthoptics, University of Sheffield, Sheffield, United Kingdom; Foveal Development Investigators Group.
  • Han J; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea; Foveal Development Investigators Group.
  • Kessel L; Department of Ophthalmology, Rigshospitalet, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; Foveal Development Investigators Group.
  • van Genderen MM; Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, The Netherlands; Bartiméus Diagnostic Centre for Complex Visual Disorders, Zeist, The Netherlands; Foveal Development Investigators Group.
  • McLean RJ; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom.
  • Hisaund M; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom.
  • Tu Z; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group.
  • Hertle RW; Department of Ophthalmology, The Rebecca D. Considine Research Institute and The Children's Vision Center, Akron Children's Hospital, Akron, Ohio; Department of Surgery, The Northeastern Ohio Medical University, Rootstown, Ohio; Foveal Development Investigators Group.
  • Gronskov K; Department of Clinical Genetics, Rigshospitalet-Kennedy Center, Glostrup, Denmark; Foveal Development Investigators Group.
  • Bai D; Department of Ophthalmology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China; Foveal Development Investigators Group.
  • Wei A; Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China; Foveal Development Investigators Group.
  • Li W; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; Rare Disease Center, National Center for Children's Health; MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, Beijing, China; Foveal Development Invest
  • Jiao Y; Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Lab, Beijing, China; Foveal Development Investigators Group.
  • Smirnov V; Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Institut de la Vision, Paris, France; Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France; Foveal Development Investigators Group.
  • Choi JH; Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea; Foveal Development Investigators Group.
  • Tobin MD; Department of Health Sciences, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group.
  • Sheth V; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Academic Unit of Ophthalmology and Orthoptics, University of Sheffield, Sheffield, United Kingdom.
  • Purohit R; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom.
  • Dawar B; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom.
  • Girach A; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom.
  • Strul S; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota; Foveal Development Investigators Group.
  • May L; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota; Foveal Development Investigators Group.
  • Chen FK; Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Crawley, Australia; Foveal Development Investigators Group.
  • Heath Jeffery RC; Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Crawley, Australia; Foveal Development Investigators Group.
  • Aamir A; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom.
  • Sano R; Retina and Vitreous Sector of Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil; Foveal Development Investigators Group.
  • Jin J; Sidney Kimmel Medical College of Thomas Jefferson University, Nemours Children's Health, Philadelphia, Pennsylvania; Nemours Children's Health, Wilmington, Delaware.
  • Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland; Foveal Development Investigators Group.
  • Kohl S; Centre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, Tübingen, Germany; Foveal Development Investigators Group.
  • Arveiler B; Rare Diseases, Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France; Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, France; Foveal Development Investigators Group.
  • Montoliu L; National Centre for Biotechnology (CNB-CSIC) and CIBERER-ISCIII, Madrid, Spain; Foveal Development Investigators Group.
  • Engle EC; Departments of Neurology and Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland; Foveal Development Investigators Group.
  • Proudlock FA; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom.
  • Nishad G; International Institute of Information Technology, Hyderabad, India.
  • Pani P; International Institute of Information Technology, Hyderabad, India.
  • Varma G; International Institute of Information Technology, Hyderabad, India; Foveal Development Investigators Group.
  • Gottlob I; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group; Cooper Neurological Institute, Cooper Medical School of Rowan University, Camden, New Jersey.
  • Thomas MG; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group. Electronic address: mt350@le.ac.uk.
Ophthalmology ; 129(6): 708-718, 2022 06.
Article in En | MEDLINE | ID: mdl-35157951
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Albinism / Color Vision Defects / Albinism, Ocular / Albinism, Oculocutaneous Type of study: Clinical_trials / Diagnostic_studies / Observational_studies / Prognostic_studies Limits: Humans Language: En Journal: Ophthalmology Year: 2022 Type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Albinism / Color Vision Defects / Albinism, Ocular / Albinism, Oculocutaneous Type of study: Clinical_trials / Diagnostic_studies / Observational_studies / Prognostic_studies Limits: Humans Language: En Journal: Ophthalmology Year: 2022 Type: Article