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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Di Donato, Nataliya; Guerrini, Renzo; Billington, Charles J; Barkovich, A James; Dinkel, Philine; Freri, Elena; Heide, Michael; Gershon, Elliot S; Gertler, Tracy S; Hopkin, Robert J; Jacob, Suma; Keedy, Sarah K; Kooshavar, Daniz; Lockhart, Paul J; Lohmann, Dietmar R; Mahmoud, Iman G; Parrini, Elena; Schrock, Evelin; Severi, Giulia; Timms, Andrew E; Webster, Richard I; Willis, Mary J H; Zaki, Maha S; Gleeson, Joseph G; Leventer, Richard J; Dobyns, William B.
Affiliation
  • Di Donato N; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany.
  • Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy.
  • Billington CJ; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55454, USA.
  • Barkovich AJ; Departments of Radiology and Biomedical Imaging, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, CA 94143, USA.
  • Dinkel P; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany.
  • Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
  • Heide M; Max Planck Institute of Molecular Cell Biology and Genetics, 01307 Dresden, Germany.
  • Gershon ES; German Primate Center, Leibniz Institute for Primate Research, 37077 Goettingen, Germany.
  • Gertler TS; Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.
  • Hopkin RJ; Department of Psychiatry and Behavioral Neuroscience, The University of Chicago, Chicago, IL 60637, USA.
  • Jacob S; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
  • Keedy SK; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Department of Pediatrics, Division of Human Genetics, Cincinnati, OH 45229, USA.
  • Kooshavar D; Department of Psychiatry, University of Minnesota, Minneapolis, MN 55454, USA.
  • Lockhart PJ; Department of Psychiatry and Behavioral Neuroscience, The University of Chicago, Chicago, IL 60637, USA.
  • Lohmann DR; Bruce Lefory Centre, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia.
  • Mahmoud IG; Bruce Lefory Centre, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia.
  • Parrini E; Institut fur Humangenetik, Universitatsklinikum Essen, 45147 Essen, Germany.
  • Schrock E; Pediatric Neurology Department, Cairo University Children's Hospital, Cairo, Egypt.
  • Severi G; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy.
  • Timms AE; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany.
  • Webster RI; Medical Genetics Unit, S. Orsola-Malpighi Hospital, 40138 Bologna, Italy.
  • Willis MJH; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Zaki MS; T. Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney 2145, Australia.
  • Gleeson JG; Uniformed Services University School of Medicine and Naval Medical Center, Department of Pediatrics, San Diego, CA 92134, USA.
  • Leventer RJ; Pediatric Neurology Department, Cairo University Children's Hospital, Cairo, Egypt.
  • Dobyns WB; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo Governorate 12622, Egypt.
Brain ; 145(9): 3274-3287, 2022 09 14.
Article in En | MEDLINE | ID: mdl-35769015
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Full text: 1 Database: MEDLINE Main subject: Lissencephaly / Reelin Protein Type of study: Prognostic_studies Limits: Adult / Child / Humans Language: En Journal: Brain Year: 2022 Type: Article Affiliation country: Germany
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Full text: 1 Database: MEDLINE Main subject: Lissencephaly / Reelin Protein Type of study: Prognostic_studies Limits: Adult / Child / Humans Language: En Journal: Brain Year: 2022 Type: Article Affiliation country: Germany