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  1. 1.   Identification of Intragenic Deletions and Duplication in the FLCN Gene in Birt-Hogg-Dube Syndrome
  2. Benhammou, J. N. B. J. N.; Vocke, C. D.; Santani, A.; Schmidt, L. S.; Baba, M.; Seyama, K.; Wu, X. L.; Korolevich, S.; Nathanson, K. L.; Stolle, C. A.; Linehan, W. M.
  3. Genes Chromosomes & Cancer. 2011, Jun; 50(6): 466-477.
  1. 2.   BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports
  2. Toro, J. R.; Wei, M. H.; Glenn, G. M.; Weinreich, M.; Toure, O.; Vocke, C.; Turner, M.; Choyke, P.; Merino, M. J.; Pinto, P. A.; Steinberg, S. M.; Schmidt, L. S.; Linehan, W. M.
  3. Journal of Medical Genetics. 2008 45(6): 321-331.
  1. 3.   Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome
  2. Toro, J. R.; Pautler, S. E.; Stewart, L.; Glenn, G. M.; Weinreich, M.; Toure, O.; Wei, M. H.; Schmidt, L. S.; Davis, L.; Zbar, B.; Choyke, P.; Steinberg, S. M.; Nguyen, D. M.; Linehan, W. M.
  3. American Journal of Respiratory and Critical Care Medicine. 2007, May; 175(10): 1044-1053.
  1. 4.   Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
  2. Baba, M.; Hong, S. B.; Sharma, N.; Warren, M. B.; Nickerson, M. L.; Iwamatsu, A.; Esposito, D.; Gillette, W. K.; Hopkins, R. F.; Hartley, J. L.; Furihata, M.; Oishi, S.; Zhen, W.; Burke, T. R.; Linehan, W. M.; Schmidt, L. S.; Zbar, B.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2006, Oct; 103(42): 15552-15557.
  1. 5.   High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors
  2. Vocke, C. D.; Yang, Y. F.; Pavlovich, C. P.; Schmidt, L. S.; Nickerson, M. L.; Torres-Cabala, C. A.; Merino, M. J.; Walther, M. M.; Zbar, B.; Linehan, W. M.
  3. Journal of the National Cancer Institute. 2005, JUN 15; 97(12): 931-935.
  1. 6.   Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome
  2. Schmidt, L. S.; Nickerson, M. L.; Warren, M. B.; Glenn, G. M.; Toro, J. R.; Merino, M. J.; Turner, M. L.; Choyke, P. L.; Sharma, N.; Peterson, J.; Morrison, P.; Maher, E. R.; Walther, M. M.; Zbar, B.; Linehan, W. M.
  3. American Journal of Human Genetics. 2005, JUN; 76(6): 1023-1033.
  1. 7.   Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome
  2. Pavlovich, C. P.; Grubb, R. L.; Hurley, K.; Glenn, G. M.; Toro, J.; Schmidt, L. S.; Torres-Cabala, C.; Merino, M. J.; Zbar, B.; Choyke, P.; Walther, M. M.; Linehan, W. M.
  3. Journal of Urology. 2005, MAY; 173(5): 1482-1486.
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