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Volume 41 Issue 8
Aug.  2014
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Article Contents

Use of Whole-Exome Sequencing for the Diagnosis of Atypical Birt–Hogg–Dubé Syndrome

doi: 10.1016/j.jgg.2014.06.005
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  • Corresponding author: E-mail address: hbzhang@ibms.pumc.edu.cn (Hongbing Zhang)
  • Received Date: 2014-03-03
  • Accepted Date: 2014-06-16
  • Rev Recd Date: 2014-06-15
  • Available Online: 2014-06-21
  • Publish Date: 2014-08-20
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    [2]
    Bamshad, M.J., Ng, S.B., Bigham, A.W. et al. Exome sequencing as a tool for Mendelian disease gene discovery Nat. Rev. Genet., 12 (2011),pp. 745-755
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    Graham, R.B., Nolasco, M., Peterlin, B. et al. Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults Am. J. Respir. Crit. Care Med., 172 (2005),pp. 39-44
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    Nickerson, M.L., Warren, M.B., Toro, J.R. et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome Cancer Cell, 2 (2002),pp. 157-164
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    Sahn, S.A., Heffner, J.E. Spontaneous pneumothorax N. Engl. J. Med., 342 (2000),pp. 868-874
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    Schmidt, L.S., Nickerson, M.L., Warren, M.B. et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome Am. J. Hum. Genet., 76 (2005),pp. 1023-1033
    [11]
    Trotman-Dickenson, B. Cystic lung disease: achieving a radiologic diagnosis Eur. J. Radiol., 83 (2014),pp. 39-46
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    Wu, J., Matthaei, H., Maitra, A. et al. Sci. Transl. Med., 3 (2011),p. 92ra66
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    Yan, M., Gingras, M.C., Dunlop, E.A. et al. The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation J. Clin. Invest., 124 (2014),pp. 2640-2650
    [14]
    Yang, Y., Muzny, D.M., Reid, J.G. et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders N. Engl. J. Med., 369 (2013),pp. 1502-1511
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