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ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan S; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L; Bryant, Emily M; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M; Friedman, Jennifer R; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N; Owens, Joshua W; Husami, Ammar; Chaudhari, Bimal P; Stone, Brandon S; Burns, Katie; Li, Rachel; de Lange, Iris M; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf W; Trimouille, Aurélien.
Afiliação
  • de Sainte Agathe JM; Department of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France jean-madeleine.desainteagathe@aphp.fr.
  • Pode-Shakked B; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Naudion S; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Michaud V; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
  • Arveiler B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
  • Fergelot P; Maladies Rares : Génétique et Métabolisme (MRGM), U1211, INSERM, Bordeaux, France.
  • Delmas J; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
  • Keren B; Maladies Rares : Génétique et Métabolisme (MRGM), U1211, INSERM, Bordeaux, France.
  • Poirsier C; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
  • Alkuraya FS; Maladies Rares : Génétique et Métabolisme (MRGM), U1211, INSERM, Bordeaux, France.
  • Tabarki B; Pediatric and Prenatal Imaging Department, Centre Hospitalier Universitaire de Bordeaux Groupe hospitalier Pellegrin, Bordeaux, France.
  • Bend E; Department of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.
  • Davis K; Département de génétique médicale, CHU Reims, Reims, France.
  • Bebin M; Department of Translational Genomic, Center for Genomic Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
  • Thompson ML; Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military and Medical City, Riyadh, Saudi Arabia.
  • Bryant EM; PreventionGenetics LLC, Marshfield, Wisconsin, USA.
  • Wagner M; Division of Medical Genetics, Royal University Hospital, Saskatoon, Saskatchewan, Canada.
  • Hannibal I; UAB Epilepsy Center, The University of Alabama at Birmingham Hospital, Birmingham, Alabama, USA.
  • Lenberg J; Greg Cooper's Laboratory, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
  • Krenn M; Gillette Children's Specialty Healthcare, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
  • Wigby KM; Institute of Human Genetics, Technische Universitat Munchen, Munchen, Germany.
  • Friedman JR; Institute of Neurogenomics, Helmholtz Zentrum Munchen Deutsches Forschungszentrum fur Umwelt und Gesundheit, Neuherberg, Germany.
  • Iascone M; Department of Pediatrics, University Hospital Munich, Munchen, Germany.
  • Cereda A; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
  • Miao T; Department of Neurology, Medizinische Universitat Wien, Wien, Austria.
  • LeGuern E; Rady Children's Hospital-San Diego, University of California, San Diego, California, USA.
  • Argilli E; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
  • Sherr E; Division of Neurology, Rady Children's Hospital San Diego, San Diego, California, USA.
  • Caluseriu O; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Tidwell T; Pediatric Department, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Bayrak-Toydemir P; Department of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.
  • Hagedorn C; École d'ingénieurs biotechnologies Paris - SupBiotech, Sup'Biotech, Paris, France.
  • Brugger M; Department of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.
  • Vill K; ICM, INSERM, Paris, France.
  • Morneau-Jacob FD; Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA.
  • Chung W; Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA.
  • Weaver KN; Department of Medical Genetics, University of Alberta Hospital, Edmonton, Alberta, Canada.
  • Owens JW; ARUP Laboratories, Salt Lake City, Utah, USA.
  • Husami A; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.
  • Chaudhari BP; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
  • Stone BS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munchen, Germany.
  • Burns K; Fachbereich Neuromuskuläre Erkrankungen und klinische Neurophysiologie, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität, Munich, Germany.
  • Li R; Division of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
  • de Lange IM; Departments of Pediatrics and Medicine, Columbia University, New York City, New York, USA.
  • Biehler M; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Ginglinger E; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Gérard B; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Stottmann RW; Divisions of Neonatology, Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Trimouille A; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.
J Med Genet ; 60(10): 999-1005, 2023 10.
Article em En | MEDLINE | ID: mdl-37185208
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Heterotopia Nodular Periventricular / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Heterotopia Nodular Periventricular / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França País de publicação: Reino Unido