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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Cogné, Benjamin; Latypova, Xenia; Senaratne, Lokuliyanage Dona Samudita; Martin, Ludovic; Koboldt, Daniel C; Kellaris, Georgios; Fievet, Lorraine; Le Meur, Guylène; Caldari, Dominique; Debray, Dominique; Nizon, Mathilde; Frengen, Eirik; Bowne, Sara J; Cadena, Elizabeth L; Daiger, Stephen P; Bujakowska, Kinga M; Pierce, Eric A; Gorin, Michael; Katsanis, Nicholas; Bézieau, Stéphane; Petersen-Jones, Simon M; Occelli, Laurence M; Lyons, Leslie A; Legeai-Mallet, Laurence; Sullivan, Lori S; Davis, Erica E; Isidor, Bertrand.
Affiliation
  • Cogné B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Latypova X; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Senaratne LDS; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407 Oslo, Norway.
  • Martin L; University of Paris, INSERM U1163, Institut Imagine, 75015 Paris, France.
  • Koboldt DC; The Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Kellaris G; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Fievet L; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Le Meur G; Service d'Ophtalmologie, Hôtel Dieu, CHU de Nantes, 44093 Nantes, France.
  • Caldari D; Service de Pédiatrie, Hôpital Mère-Enfants, CHU de NANTES, 44093 Nantes, France.
  • Debray D; Unité d'Hépatologie pédiatrique, Centre de référence de l'atrésie des voies biliaires et des cholestases génétiques Hôpital NECKER, 75015 Paris, France.
  • Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407 Oslo, Norway.
  • Bowne SJ; Human Genetics Center, School of Public Health, University of TX Health Science Center at Houston, Houston, TX 77030, USA.
  • Cadena EL; Human Genetics Center, School of Public Health, University of TX Health Science Center at Houston, Houston, TX 77030, USA.
  • Daiger SP; Human Genetics Center, School of Public Health, University of TX Health Science Center at Houston, Houston, TX 77030, USA; Ruiz Department of Ophthalmology and Visual Science, University of TX Health Science Center at Houston, Houston, TX 77030, USA.
  • Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA.
  • Pierce EA; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA.
  • Gorin M; Jules Stein Eye Institute and Department of Ophthalmology, University of California Los Angeles, Los Angeles, CA 90095, USA.
  • Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; Advanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Department of Ped
  • Bézieau S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Petersen-Jones SM; Department of Small Animal Clinical Studies, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA.
  • Occelli LM; Department of Small Animal Clinical Studies, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA.
  • Lyons LA; Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
  • Legeai-Mallet L; University of Paris, INSERM U1163, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France.
  • Sullivan LS; Human Genetics Center, School of Public Health, University of TX Health Science Center at Houston, Houston, TX 77030, USA.
  • Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; Advanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Department of Ped
  • Isidor B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France. Electronic address: bertrand.isidor@chu-nantes.fr.
Am J Hum Genet ; 106(6): 893-904, 2020 06 04.
Article in En | MEDLINE | ID: mdl-32386558
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retina / Kinesins / Ciliopathies / Genes, Dominant / Mutation Type of study: Prognostic_studies Limits: Adult / Animals / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2020 Type: Article Affiliation country: France
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retina / Kinesins / Ciliopathies / Genes, Dominant / Mutation Type of study: Prognostic_studies Limits: Adult / Animals / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2020 Type: Article Affiliation country: France