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Research Article

Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene–phenotype correlations†‡

  1. Takeo Nishida1,2,
  2. Marie E. Faughnan2,3,4,5,*,
  3. Timo Krings2,6,
  4. Murali Chakinala2,7,
  5. James R. Gossage2,8,
  6. William L. Young2,9,10,11,
  7. Helen Kim2,9,12,13,
  8. Tony Pourmohamad9,
  9. Katharine J. Henderson1,2,
  10. Stacy D. Schrum2,7,
  11. Melissa James2,8,
  12. Nancy Quinnine2,9,
  13. Aditya Bharatha14,
  14. Karel G. terBrugge2,6,
  15. Robert I. White Jr1,2

Article first published online: 18 SEP 2012

DOI: 10.1002/ajmg.a.35622

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES

Volume 158A, Issue 11, pages 2829–2834, November 2012

Additional Information

How to Cite

Nishida, T., Faughnan, M. E., Krings, T., Chakinala, M., Gossage, J. R., Young, W. L., Kim, H., Pourmohamad, T., Henderson, K. J., Schrum, S. D., James, M., Quinnine, N., Bharatha, A., terBrugge, K. G. and White, R. I. (2012), Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene–phenotype correlations. Am. J. Med. Genet., 158A: 2829–2834. doi: 10.1002/ajmg.a.35622

Author Information

  1. 1

    Yale HHT Center, Department of Diagnostic Radiology, Yale University School of Medicine, New Haven, Connecticut

  2. 2

    Brain Vascular Malformation Consortium, Rare Disease Clinical Research Network**

  3. 3

    Division of Respirology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada

  4. 4

    Toronto HHT Program, Division of Respirology, Department of Medicine, St. Michael's Hospital, Toronto, Ontario, Canada

  5. 5

    Keenan Research Centre, Li Ka Shing Knowledge Institute, St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada

  6. 6

    Division of Neuroradiology, Department of Medical Imaging, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada

  7. 7

    Pulmonary/Critical Care division, Department of Internal medicine, Washington University School of Medicine, St. Louis, Missouri

  8. 8

    Georgia Health Sciences University, Augusta, Georgia

  9. 9

    Department of Anesthesia and Perioperative Care, Center for Cerebrovascular Research, University of California–San Francisco, San Francisco, California

  10. 10

    Department of Neurological Surgery, University of California–San Francisco, San Francisco, California

  11. 11

    Department of Neurology, University of California–San Francisco, San Francisco, California

  12. 12

    Department of Epidemiology and Biostatistics, University of California–San Francisco, San Francisco, California

  13. 13

    Institute for Human Genetics, University of California–San Francisco, San Francisco, California

  14. 14

    Division of Neuroradiology, Department of Medical Imaging, St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada

*St. Michael's Hospital, 30 Bond St, Toronto, ON, Canada M5B-1W8.

  1. †

    **The BVMC (U54NS065705) is a part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN), supported through the NIH Office of Rare Diseases Research (ORDR)/National Center for Advancing Translational Sciences (NCATS) and the National Institute of Neurological Disorders and Stroke (NINDS).

  2. ‡

    How to Cite this Article: Nishida T, Faughnan ME, Krings T, Chakinala TK, Gossage JR, Young WL, Kim H, Pourmohamad T, Henderson KJ, Schrum SD, James M, Quinnine N, Bharatha A, terBrugge KG, White RIJ, 2012. Brain Arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene-phenotype correlations. Am J Med Genet Part A 158A: 2829–2834.

Publication History

  1. Issue published online: 17 OCT 2012
  2. Article first published online: 18 SEP 2012
  3. Manuscript Accepted: 26 JUL 2012
  4. Manuscript Received: 5 JAN 2012

Funded by

  • US Public Health Service, National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS) and Office of Rare Disease Research (ORDR)/National Center for Advancing Translational Sciences (NCATS). Grant Number: U54NS065705

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View Full Article with Supporting Information (HTML) Get PDF (146K)