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Genotype-phenotype correlations
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

Authors

  • Andrea Poretti Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA PubMed articlesGoogle scholar articles
  • Joseph Snow Intramural Research Program, Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health (NIH), Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Angela C Summers Intramural Research Program, Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health (NIH), Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Aylin Tekes Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articlesGoogle scholar articles
  • Thierry A G M Huisman Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articlesGoogle scholar articles
  • Nafi Aygun Division of Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articlesGoogle scholar articles
  • Kathryn A Carson Department of Epidemiology, The Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA Division of General Internal Medicine, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articlesGoogle scholar articles
  • Dan Doherty Department of Pediatrics, University of Washington, Seattle, Washington, USA Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA PubMed articlesGoogle scholar articles
  • Melissa A Parisi Intellectual and Developmental Disabilities Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Camilo Toro NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Maryland, USA PubMed articlesGoogle scholar articles
  • Deniz Yildirimli Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Meghana Vemulapalli NIH Intramural Sequencing Center, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Jim C Mullikin NIH Intramural Sequencing Center, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • NISC Comparative Sequencing Program
    Google scholar articles
  • Andrew R Cullinane Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA Department of Anatomy, Howard University College of Medicine, Washington District of Columbia, USA PubMed articlesGoogle scholar articles
  • Thierry Vilboux Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA Inova Translational Medicine Institute, Falls Church, Virginia, USA PubMed articlesGoogle scholar articles
  • William A Gahl NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Maryland, USA Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Meral Gunay-Aygun Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Andrea Poretti, Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins School of Medicine, Charlotte R. Bloomberg Children's Center, Sheikh Zayed Tower, Room 4174, 1800 Orleans Street, Baltimore, MD 21287-0842, USA; aporett1{at}jhmi.edu
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Citation

Poretti A, Snow J, Summers AC, et al
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
Journal of Medical Genetics 2017;54:521-529.

Publication history

  • Received November 2, 2016
  • Revised December 9, 2016
  • Accepted December 10, 2016
  • First published January 13, 2017.
Online issue publication 
February 23, 2018

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