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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Caron, Véronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chorfi, Sarah; Lakhani, Saquib A; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R; van de Pol, Laura A; van Hagen, Johanna M; Russi, Alvaro Serrano; Le Guyader, Gwenaël; Nordenskjöld, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancié, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Françoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R; Calame, Daniel G; Geneviève, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A; Dobyns, William B; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances.
Afiliação
  • Caron V; CHU Sainte-Justine Research Center, Montréal, QC, Canada.
  • Chassaing N; Service de Génétique Médicale, Hôpital Purpan CHU Toulouse, Toulouse, France; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, CHU Toulouse, Toulouse, France.
  • Ragge N; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, United Kingdom; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust and Birmingham Health Partners, Birmingham, United Kingdom.
  • Boschann F; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute for Medical Genetics and Human Genetics, Berlin, Germany.
  • Ngu AM; CHU Sainte-Justine Research Center, Montréal, QC, Canada.
  • Meloche E; CHU Sainte-Justine Research Center, Montréal, QC, Canada.
  • Chorfi S; CHU Sainte-Justine Research Center, Montréal, QC, Canada.
  • Lakhani SA; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT.
  • Ji W; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT.
  • Steiner L; Department of Pediatrics, University of Rochester Medical Center, Rochester, NY.
  • Marcadier J; Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada.
  • Jansen PR; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.
  • van de Pol LA; Department of Pediatric Neurology, Amsterdam UMC, location Vrije Universiteit, Amsterdam, The Netherlands.
  • van Hagen JM; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.
  • Russi AS; Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA.
  • Le Guyader G; Service de Génétique médicale, CHU de Poitiers, Poitiers, France.
  • Nordenskjöld M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Plaisancié J; Service de Génétique Médicale, Hôpital Purpan CHU Toulouse, Toulouse, France; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, CHU Toulouse, Toulouse, France.
  • Stoltenburg C; Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Horn D; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute for Medical Genetics and Human Genetics, Berlin, Germany.
  • Drenckhahn A; Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Hamdan FF; CHU Sainte-Justine Research Center, Montréal, QC, Canada; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada.
  • Lefebvre M; UF de fœtopathologie, Hôpital Robert Debré, Paris, France.
  • Attie-Bitach T; Service de médecine génomique des maladies rares, Hôpital Universitaire Necker-Enfants malade, Paris, France.
  • Forey P; Centre Hospitalier d'Angoulême, Angoulême, France.
  • Smirnov V; Exploration de la Vision et Neuro-Ophtalmologie, Hôpital Roger-Salengro, CHU de Lille, Lille, France.
  • Ernould F; Service d'ophtalmologie, Hôpital Claude Huriez, CHU de Lille, Lille, France.
  • Jacquemont ML; Medical Genetics, CHU La Reunion, Reunion Island, France.
  • Grotto S; Unité de Génétique Clinique, Hôpital Robert Debré, Paris, France.
  • Alcantud A; Servicio de Pediatría, Hospital de Sagunto, Valencia, Spain.
  • Coret A; Servicio de Pediatría, Hospital de Sagunto, Valencia, Spain.
  • Ferrer-Avargues R; Medical Genetics Unit, Sistemas Genómicos, Paterna, Spain.
  • Srivastava S; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA.
  • Vincent-Delorme C; Clinique de Génétique "Guy Fontaine," Hôpital Jeanne de Flandre, Lille, France.
  • Romoser S; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA.
  • Safina N; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA.
  • Saade D; Division of Child Neurology, Stead Family Department of Pediatrics, Department of Neurology, UI Carver College of Medicine, Iowa City, IA.
  • Lupski JR; Department of Pediatrics and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
  • Calame DG; Department of Pediatrics and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
  • Geneviève D; Université Montpellier, INSERM U1183, Génétique clinique, CHU de Montpellier, Montpellier, France.
  • Chatron N; Service de Génétique, Hospices Civils de Lyon, Lyon, France; Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France.
  • Schluth-Bolard C; Service de Génétique, Hospices Civils de Lyon, Lyon, France.
  • Myers KA; Division of Neurology, Department of Pediatrics, McGill University Health Centre, Montreal, QC, Canada.
  • Dobyns WB; Department of Pediatrics, University of Minnesota, Minneapolis, MN.
  • Calvas P; Service de Génétique Médicale, Hôpital Purpan CHU Toulouse, Toulouse, France; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, CHU Toulouse, Toulouse, France.
  • Salmon C; Children's & Adolescent Services, Royal Surrey County Hospital, Guildford, Surrey, United Kingdom.
  • Holt R; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, United Kingdom.
  • Elmslie F; St George's University Hospitals NHS Foundation Trust, London, United Kingdom.
Genet Med ; 25(8): 100856, 2023 08.
Article em En | MEDLINE | ID: mdl-37092537
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Microftalmia / Receptores do Ácido Retinoico Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Canadá País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Microftalmia / Receptores do Ácido Retinoico Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Canadá País de publicação: Estados Unidos