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De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
Wallmeier, Julia; Frank, Diana; Shoemark, Amelia; Nöthe-Menchen, Tabea; Cindric, Sandra; Olbrich, Heike; Loges, Niki T; Aprea, Isabella; Dougherty, Gerard W; Pennekamp, Petra; Kaiser, Thomas; Mitchison, Hannah M; Hogg, Claire; Carr, Siobhán B; Zariwala, Maimoona A; Ferkol, Thomas; Leigh, Margaret W; Davis, Stephanie D; Atkinson, Jeffrey; Dutcher, Susan K; Knowles, Michael R; Thiele, Holger; Altmüller, Janine; Krenz, Henrike; Wöste, Marius; Brentrup, Angela; Ahrens, Frank; Vogelberg, Christian; Morris-Rosendahl, Deborah J; Omran, Heymut.
Afiliação
  • Wallmeier J; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Frank D; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Shoemark A; Molecular & Clinical Medicine, University of Dundee, Dundee DD1 4HN, UK; Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK.
  • Nöthe-Menchen T; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Cindric S; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Olbrich H; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Loges NT; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Aprea I; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Dougherty GW; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Pennekamp P; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Kaiser T; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Mitchison HM; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
  • Hogg C; Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK.
  • Carr SB; Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK.
  • Zariwala MA; Department of Pathology and Laboratory Medicine, Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Ferkol T; Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA.
  • Leigh MW; Department of Pediatrics, Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Davis SD; Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Atkinson J; Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA.
  • Dutcher SK; McDonnell Genome Institute, Department of Genetics, Washington University School of Medicine, St. Louis, MO 63108, USA.
  • Knowles MR; Department of Medicine, Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Thiele H; Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.
  • Altmüller J; Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.
  • Krenz H; Institute of Medical Informatics, University of Muenster, 48149 Muenster, Germany.
  • Wöste M; Institute of Medical Informatics, University of Muenster, 48149 Muenster, Germany.
  • Brentrup A; Department of Neurosurgery, University Hospital Muenster, 48149 Muenster, Germany.
  • Ahrens F; Children's Hospital "Altona," 22763 Hamburg, Germany.
  • Vogelberg C; Paediatric Department, University Hospital Carl Gustav Carus Dresden, TU Dresden, 01307 Dresden, Germany.
  • Morris-Rosendahl DJ; Clinical Genetics and Genomics, Royal Brompton and Harefield NHS Foundation Trust, SW3 6NP London, UK; National Heart and Lung Institute, Imperial College London, SW3 6LY London, UK.
  • Omran H; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany. Electronic address: heymut.omran@ukmuenster.de.
Am J Hum Genet ; 105(5): 1030-1039, 2019 11 07.
Article em En | MEDLINE | ID: mdl-31630787
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ventrículos Cerebrais / Fatores de Transcrição Forkhead / Ciliopatias / Hidrocefalia / Mutação Tipo de estudo: Clinical_trials / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ventrículos Cerebrais / Fatores de Transcrição Forkhead / Ciliopatias / Hidrocefalia / Mutação Tipo de estudo: Clinical_trials / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article