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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

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Title: Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Authors: 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., Allaire M; Berkeley Center for Structural Biology, Molecular Biophysics and Integrated Bioimaging Division, Lawrence Berkeley National Laboratory, Berkeley, CA., Prigozhin DM; Berkeley Center for Structural Biology, Molecular Biophysics and Integrated Bioimaging Division, Lawrence Berkeley National Laboratory, Berkeley, CA., Tremblay A; CHU Sainte-Justine Research Center, Montréal, QC, Canada; Department of Obstetrics & Gynecology, Université de Montréal, Montréal, QC, Canada; Department of Biochemistry and Molecular Medecine, Université de Montréal, Montréal, QC, Canada. Electronic address: andre.tremblay.1@umontreal.ca., Michaud JL; CHU Sainte-Justine Research Center, Montréal, QC, Canada; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada; Department of Neurosciences, Université de Montréal, Montréal, QC, Canada. Electronic address: jacques.michaud.med@ssss.gouv.qc.ca.
Corporate Authors: DDD Study; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Aug; Vol. 25 (8), pp. 100856. Date of Electronic Publication: 2023 Apr 20.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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DbLabel: MEDLINE Ultimate
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AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
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  Data: <searchLink fieldCode="AU" term="%22Caron+V%22">Caron V</searchLink>; CHU Sainte-Justine Research Center, Montréal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Chassaing+N%22">Chassaing N</searchLink>; Service de Génétique Médicale, Hôpital Purpan CHU Toulouse, Toulouse, France; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, CHU Toulouse, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Ragge+N%22">Ragge N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Boschann+F%22">Boschann F</searchLink>; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute for Medical Genetics and Human Genetics, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Ngu+AM%22">Ngu AM</searchLink>; CHU Sainte-Justine Research Center, Montréal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Meloche+E%22">Meloche E</searchLink>; CHU Sainte-Justine Research Center, Montréal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Chorfi+S%22">Chorfi S</searchLink>; CHU Sainte-Justine Research Center, Montréal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Lakhani+SA%22">Lakhani SA</searchLink>; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT.<br /><searchLink fieldCode="AU" term="%22Ji+W%22">Ji W</searchLink>; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT.<br /><searchLink fieldCode="AU" term="%22Steiner+L%22">Steiner L</searchLink>; Department of Pediatrics, University of Rochester Medical Center, Rochester, NY.<br /><searchLink fieldCode="AU" term="%22Marcadier+J%22">Marcadier J</searchLink>; Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Jansen+PR%22">Jansen PR</searchLink>; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+de+Pol+LA%22">van de Pol LA</searchLink>; Department of Pediatric Neurology, Amsterdam UMC, location Vrije Universiteit, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Hagen+JM%22">van Hagen JM</searchLink>; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Russi+AS%22">Russi AS</searchLink>; Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA.<br /><searchLink fieldCode="AU" term="%22Le+Guyader+G%22">Le Guyader G</searchLink>; Service de Génétique médicale, CHU de Poitiers, Poitiers, France.<br /><searchLink fieldCode="AU" term="%22Nordenskjöld+M%22">Nordenskjöld M</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical genetics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Nordgren+A%22">Nordgren A</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical genetics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Anderlid+BM%22">Anderlid BM</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical genetics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Plaisancié+J%22">Plaisancié J</searchLink>; Service de Génétique Médicale, Hôpital Purpan CHU Toulouse, Toulouse, France; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, CHU Toulouse, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Stoltenburg+C%22">Stoltenburg C</searchLink>; Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Horn+D%22">Horn D</searchLink>; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute for Medical Genetics and Human Genetics, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Drenckhahn+A%22">Drenckhahn A</searchLink>; Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Hamdan+FF%22">Hamdan FF</searchLink>; CHU Sainte-Justine Research Center, Montréal, QC, Canada; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Lefebvre+M%22">Lefebvre M</searchLink>; UF de fœtopathologie, Hôpital Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Attie-Bitach+T%22">Attie-Bitach T</searchLink>; Service de médecine génomique des maladies rares, Hôpital Universitaire Necker-Enfants malade, Paris, France.<br /><searchLink fieldCode="AU" term="%22Forey+P%22">Forey P</searchLink>; Centre Hospitalier d'Angoulême, Angoulême, France.<br /><searchLink fieldCode="AU" term="%22Smirnov+V%22">Smirnov V</searchLink>; Exploration de la Vision et Neuro-Ophtalmologie, Hôpital Roger-Salengro, CHU de Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Ernould+F%22">Ernould F</searchLink>; Service d'ophtalmologie, Hôpital Claude Huriez, CHU de Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Jacquemont+ML%22">Jacquemont ML</searchLink>; Medical Genetics, CHU La Reunion, Reunion Island, France.<br /><searchLink fieldCode="AU" term="%22Grotto+S%22">Grotto S</searchLink>; Unité de Génétique Clinique, Hôpital Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Alcantud+A%22">Alcantud A</searchLink>; Servicio de Pediatría, Hospital de Sagunto, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Coret+A%22">Coret A</searchLink>; Servicio de Pediatría, Hospital de Sagunto, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Ferrer-Avargues+R%22">Ferrer-Avargues R</searchLink>; Medical Genetics Unit, Sistemas Genómicos, Paterna, Spain.<br /><searchLink fieldCode="AU" term="%22Srivastava+S%22">Srivastava S</searchLink>; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Vincent-Delorme+C%22">Vincent-Delorme C</searchLink>; Clinique de Génétique 'Guy Fontaine,' Hôpital Jeanne de Flandre, Lille, France.<br /><searchLink fieldCode="AU" term="%22Romoser+S%22">Romoser S</searchLink>; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA.<br /><searchLink fieldCode="AU" term="%22Safina+N%22">Safina N</searchLink>; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA.<br /><searchLink fieldCode="AU" term="%22Saade+D%22">Saade D</searchLink>; Division of Child Neurology, Stead Family Department of Pediatrics, Department of Neurology, UI Carver College of Medicine, Iowa City, IA.<br /><searchLink fieldCode="AU" term="%22Lupski+JR%22">Lupski JR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Calame+DG%22">Calame DG</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Geneviève+D%22">Geneviève D</searchLink>; Université Montpellier, INSERM U1183, Génétique clinique, CHU de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Chatron+N%22">Chatron N</searchLink>; Service de Génétique, Hospices Civils de Lyon, Lyon, France; Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Schluth-Bolard+C%22">Schluth-Bolard C</searchLink>; Service de Génétique, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Myers+KA%22">Myers KA</searchLink>; Division of Neurology, Department of Pediatrics, McGill University Health Centre, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Dobyns+WB%22">Dobyns WB</searchLink>; Department of Pediatrics, University of Minnesota, Minneapolis, MN.<br /><searchLink fieldCode="AU" term="%22Calvas+P%22">Calvas P</searchLink>; Service de Génétique Médicale, Hôpital Purpan CHU Toulouse, Toulouse, France; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, CHU Toulouse, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Salmon+C%22">Salmon C</searchLink>; Children's & Adolescent Services, Royal Surrey County Hospital, Guildford, Surrey, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Holt+R%22">Holt R</searchLink>; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Elmslie+F%22">Elmslie F</searchLink>; 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Electronic address: andre.tremblay.1@umontreal.ca.<br /><searchLink fieldCode="AU" term="%22Michaud+JL%22">Michaud JL</searchLink>; CHU Sainte-Justine Research Center, Montréal, QC, Canada; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada; Department of Neurosciences, Université de Montréal, Montréal, QC, Canada. Electronic address: jacques.michaud.med@ssss.gouv.qc.ca.
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  Data: <searchLink fieldCode="CA" term="%22DDD+Study%22">DDD Study</searchLink>; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2023 Aug; Vol. 25 (8), pp. 100856. <i>Date of Electronic Publication: </i>2023 Apr 20.
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            NameFull: Saade D
      – PersonEntity:
          Name:
            NameFull: Lupski JR
      – PersonEntity:
          Name:
            NameFull: Calame DG
      – PersonEntity:
          Name:
            NameFull: Geneviève D
      – PersonEntity:
          Name:
            NameFull: Chatron N
      – PersonEntity:
          Name:
            NameFull: Schluth-Bolard C
      – PersonEntity:
          Name:
            NameFull: Myers KA
      – PersonEntity:
          Name:
            NameFull: Dobyns WB
      – PersonEntity:
          Name:
            NameFull: Calvas P
      – PersonEntity:
          Name:
            NameFull: Salmon C
      – PersonEntity:
          Name:
            NameFull: Holt R
      – PersonEntity:
          Name:
            NameFull: Elmslie F
      – PersonEntity:
          Name:
            NameFull: Allaire M
      – PersonEntity:
          Name:
            NameFull: Prigozhin DM
      – PersonEntity:
          Name:
            NameFull: Tremblay A
      – PersonEntity:
          Name:
            NameFull: Michaud JL
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 08
              Text: 2023 Aug
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 25
            – Type: issue
              Value: 8
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
ResultId 1