Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome (original) (raw)

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References

  1. Reynolds, J.F. et al. Am. J. Med. Genet. 25, 413–427 (1986).
    Article CAS Google Scholar
  2. Wieczorek, D., Majewski, F. & Gillessen-Kaesbach, G. G. Clin. Genet. 52, 37–46 (1997).
    Article CAS Google Scholar
  3. van Eeghen, A.M., van Gelderen, I. & Hennekam, R.C. Am. J. Med. Genet. 82, 187–193 (1999).
    Article CAS Google Scholar
  4. Tartaglia, M. & Gelb, B.D. Eur. J. Med. Genet. 48, 81–96 (2005).
    Article Google Scholar
  5. Ion, A. et al. Hum. Genet. 111, 421–427 (2002).
    Article Google Scholar
  6. Kavamura, M.I. et al. Eur. J. Hum. Genet. 11, 64–68 (2003).
    Article CAS Google Scholar
  7. Musante, L. et al. Eur. J. Hum. Genet. 11, 201–206 (2003).
    Article CAS Google Scholar
  8. Aoki, Y. et al. Nat. Genet. 37, 1038–1040 (2005).
    Article CAS Google Scholar
  9. Garnett, M.J. & Marais, R. Cancer Cell 6, 313–319 (2004).
    Article CAS Google Scholar
  10. Neri, G., Zollino, M. & Reynolds, J.F. Am. J. Med. Genet. 39, 367–370 (1991).
    Article CAS Google Scholar
  11. Davies, H. et al. Nature 417, 949–954 (2002).
    Article CAS Google Scholar
  12. Ikenoue, T. et al. Cancer Res. 64, 3428–3435 (2004).
    Article CAS Google Scholar
  13. Mercer, K.E. & Pritchard, C.A. Biochim. Biophys. Acta 1653, 25–40 (2003).
    CAS PubMed Google Scholar
  14. Winkler, D.G. et al. J. Biol. Chem. 273, 21578–21584 (1998).
    Article CAS Google Scholar
  15. van Den Berg, H. & Hennekam, R.C. J. Med. Genet. 36, 799–800 (1999).
    Article CAS Google Scholar

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Acknowledgements

We wish to thank the individuals and their families who participated in this study and the doctors who referred the cases. The support of CFC International in facilitating the collection of patient samples is gratefully acknowledged. We are grateful to J. Miyazaki, Osaka University, for supplying the pCAGGS expression vector. This work was supported by Grants-in-Aid from the Ministry of Education, Culture, Sports, Science and Technology of Japan and Grants-in-Aid from the Ministry of Health, Labor, and Welfare of Japan.

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Authors and Affiliations

  1. Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Tetsuya Niihori, Yoko Aoki, Yoko Narumi, Kumi Kato, Shigeo Kure & Yoichi Matsubara
  2. Università Cattolica, Istituto di Genetica Medica, Rome, Italy
    Giovanni Neri
  3. Department of Genetics, Hôpital Robert Debré (APHP), Paris, France
    Hélène Cavé, Alain Verloes & Clarisse Baumann
  4. Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan
    Nobuhiko Okamoto
  5. Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK
    Raoul C M Hennekam
  6. Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
    Raoul C M Hennekam
  7. Institut für Humangenetik, Universität Essen, Essen, Germany
    Gabriele Gillessen-Kaesbach & Dagmar Wieczorek
  8. Medical Genetics Center, Federal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil
    Maria Ines Kavamura
  9. Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan
    Kenji Kurosawa
  10. Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan
    Hirofumi Ohashi
  11. Great Ormond Street Hospital, London, UK
    Louise Wilson
  12. Genetic Department, Pitie-Salpetriere University Hospital, Paris, France
    Delphine Heron
  13. Genetic Department, University Hospital, Angers, France
    Dominique Bonneau
  14. Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, Unità Operativa Complessa Patologia Neonatale e Terapia Intensiva, Azienda Ospedaliera Universitaria G. Martino, Messina, Italy
    Giuseppina Corona
  15. Department of Medical Genetics, University of the Ryukyus School of Medicine, Okinawa, Japan
    Tadashi Kaname & Kenji Naritomi
  16. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokahama, Japan
    Naomichi Matsumoto
  17. Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation, 21st Century COE Program, Tohoku University, Sendai, Japan
    Kumi Kato & Yoichi Matsubara

Authors

  1. Tetsuya Niihori
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  2. Yoko Aoki
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  3. Yoko Narumi
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  4. Giovanni Neri
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  5. Hélène Cavé
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  6. Alain Verloes
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  7. Nobuhiko Okamoto
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  8. Raoul C M Hennekam
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  9. Gabriele Gillessen-Kaesbach
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  10. Dagmar Wieczorek
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  11. Maria Ines Kavamura
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  12. Kenji Kurosawa
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  13. Hirofumi Ohashi
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  14. Louise Wilson
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  15. Delphine Heron
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  16. Dominique Bonneau
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  17. Giuseppina Corona
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  18. Tadashi Kaname
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  19. Kenji Naritomi
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  20. Clarisse Baumann
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  21. Naomichi Matsumoto
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  22. Kumi Kato
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  23. Shigeo Kure
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  24. Yoichi Matsubara
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Corresponding author

Correspondence toYoko Aoki.

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The authors declare no competing financial interests.

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Niihori, T., Aoki, Y., Narumi, Y. et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.Nat Genet 38, 294–296 (2006). https://doi.org/10.1038/ng1749

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